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Sample records for nevus syndrome clinical

  1. Becker's nevus syndrome with quadriparesis

    PubMed Central

    Fernandes, Cecilia; Agrawal, Ayushi; Shreshtha, Binod Bade; Yogi, Nikunj; Cherian, Iype

    2010-01-01

    A 12-year-old girl presented to Manipal Teaching Hospital with quadriparesis of 8 months’ duration. Examination revealed a hyperpigmented patch over the chest wall with overlying hypertrichosis, musculoskeletal anomalies, upper limb asymmetry and ipsilateral breast hypoplasia. MRI scan revealed cranio-vertebral junction anomaly and spina bifida occulta at the cervical spine level. Histopathological examination of the skin revealed findings consistent with Becker's nevus. Based on the patient's clinical presentation and investigations, a diagnosis of Becker's nevus syndrome was made. However, she was managed conservatively as surgical intervention was not suitable in her case. The authors review Becker's nevus syndrome and its clinical manifestations below. PMID:22798308

  2. Becker's Nevus Syndrome

    PubMed Central

    Dasegowda, Sathyanarayana B; Basavaraj, GB; Nischal, KC; Swaroop, MR; Umashankar, NP; Swamy, Suchetha S

    2014-01-01

    Becker's nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker's nevus syndrome is an association of Becker's nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker's nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker's nevus was found. PMID:25071279

  3. Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome.

    PubMed

    Hsieh, Chih-Wei; Wu, Yu-Hung; Lin, Shuan-Pei; Peng, Chun-Chih; Ho, Che-Sheng

    2012-01-01

    SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.

  4. Basal cell nevus syndrome.

    PubMed

    High, Alec; Zedan, Walid

    2005-03-01

    Basal cell nevus syndrome (BCNS), is a hereditary condition transmitted as an autosomal dominant trait exhibiting high penetrance and variable expressivity. Inherited or spontaneous mutations in the human homologue of the Drosophila patched gene underlie the disorder and in addition to tumor predisposition, are associated with a range of 'patterning' defects. Recent advances, with glimpses of possible therapies are emerging, but because of the wide-ranging nature of phenotypic expression and overlap with other syndromes, there is difficulty. Finally, because of the importance of PTCH and paralogous genes in many species other than humans, reports appear in a correspondingly wide range of journals, which makes 'keeping abreast' difficult. Progress has been achieved in understanding the role of Gli-1, 2, & 3 in development of 'sporadic' BCCs and BCNS. Expression of PTCH1 is now known to be regulated by alternative promoters and a single functional Gli-binding site. Expression of FOXE1 as a new transcriptional target of Gli2 has been demonstrated in human epidermis and BCCs. Finally, the discovery of Shh pathway inhibitors such as cyclopamine, a naturally occurring alkaloid and ornithine decarboxylase inhibition suggest possible interventional therapies. In BCNS, phenotype does not correlate with position of mutations within Patched, suggesting genetic makeup and environment modulate effects of premature protein truncation induced by PTCH mutation. These developmental abnormalities occur as a result of haplo-insufficiency in heterozygotes for the mutated gene, whereas neoplastic complications arise from a classical two-hit tumor suppressor gene model. Attention is therefore turning toward TP53 and PTCH associations.

  5. Becker's Nevus Syndrome in a Pediatric Female Patient

    PubMed Central

    Hernandez-Quiceno, Sara; Ramírez-Jiménez, Juan Jose; Lopera-Cañaveral, Maria Victoria; Toro-Ramos, Martin; Usuga-Arcila, Yuri; Correa-Londoño, Luis; Martinez, Juan Camilo; Monroy, Jennifer; Alfaro, Juan Manuel

    2016-01-01

    Becker's nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker's nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1) but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Regarding the treatment of breast hypoplasia, the use of antiandrogen medication has demonstrated adequate clinical response in a dose of 50 mg/day of spironolactone. PMID:27891278

  6. SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity.

    PubMed

    Lam, Joseph; Dohil, Magdalene A; Eichenfield, Lawrence F; Cunningham, Bari B

    2008-05-01

    Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.

  7. Basal cell nevus syndrome - plantar pits (image)

    MedlinePlus

    ... pits in the palms and soles, and numerous basal cell carcinomas (skin cancers). This picture is a close-up of the pits found on the sole of the foot of an individual with basal cell nevus syndrome.

  8. Do you know this syndrome? Becker nevus syndrome.

    PubMed

    Steiner, Denise; Silva, Fernanda Ayres de Morais e; Pessanha, André César Antiori Freire; Bialeski, Nediana; Feola, Camila; Buzzoni, Carla Arantes Bertolucci

    2011-01-01

    Becker nevus syndrome is the association of Becker's nevus with breast hypoplasia and other ipsilateral bone or muscle changes. It is considered to be a hormone-dependent disorder caused by a disturbance in the activity of the androgen receptor that appears to be increased in Becker's nevus, which may influence the development of associated lesions. We present a relevant case of this syndrome due to the rare systematization of the lesions in addition to the exuberant extracutaneous involvement in this case.

  9. Becker Nevus Syndrome Presented with Ipsilateral Breast Hypoplasia

    PubMed Central

    Pektas, Suzan Demir; Akoglu, Gulsen; Metin, Ahmet; Adiyaman, Nuran Sungu; Demirseren, Mustafa Erol

    2014-01-01

    Becker nevus syndrome (BNS) is a rare epidermal nevus syndrome characterized with Becker nevus and ipsilateral breast gland hypoplasia or other skin, skeletal and/or muscle tissue disorders. A 24-year-old woman presented with brown, irregular bordered patch with a diameter of approximately 10 cm which consisted of several small macules on the left breast skin. The ultrasonography and magnetic resonance imaging revealed left breast hypoplasia. Histopathological examination demonstrated minimal acanthosis, papillomatosis, increase in basal layer melanin and hypertrophy of the erector pili muscle. Immunohistochemical staining was positive for androgen in the epidermis, dermal stromal cells and skin appendages. Depending on the clinical and histopathological findings, the patient was diagnosed as BNS. Diagnosis of BNS needs careful examination of pigmented macules and patches since non-hairy BN may be easily overlooked. Patients with BN should be evaluated for associated abnormalities of BNS, in which the severity and extend of ectodermal involvement may differ from patient to other. PMID:25484431

  10. Ophthalmic features of the organoid nevus syndrome.

    PubMed Central

    Shields, J A; Shields, C L; Eagle, R C; Arevalo, F; De Potter, P

    1996-01-01

    BACKGROUND/PURPOSE: The organoid nevus (sebaceous nevus) syndrome is characterized primarily by cutaneous sebaceous nevus, seizures, and epibulbar choristomas. On the basis of ophthalmoscopic and computed tomographic studies, a yellow fundus lesion recently observed in this syndrome has been called a coloboma by some investigators and a choroidal osteoma by others. This study was undertaken to review our personal experience with the organoid nevus syndrome, to review the English language literature on the subject, and to address some misconceptions regarding its ocular manifestations. METHODS: We reviewed the records of patients with the organoid nevus syndrome who were personally evaluated by the investigators. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions. RESULTS: We identified five patients with the organoid nevus syndrome. Four had a classic sebaceous nevus in the facial and scalp area, and 2 had seizures and arachnoid cysts. All 5 patients had an epibulbar tumor, which proved to be a complex choristoma in one case that was studied histopathologically. A characteristic ophthalmoscopic feature, observed in the 4 patients with clear ocular media, was a flat yellow discoloration of the posterior fundus, of variable size and shape, which appeared to correlate with a dense plaque noted on ultrasonography and computed tomography. In 1 case, histopathologic examination showed that this posterior lesion contained intrascleral cartilage. CONCLUSIONS: Our observations and a review of the literature indicated that the organoid nevus syndrome has varied manifestations. Like the closely related phakomatoses, it often occurs as a forme fruste, without full expression of the syndrome. The most important ocular manifestations are an epibulbar mass, compatible with a complex choristoma, and focal yellow discoloration in the fundus, probably related to intrascleral cartilage. Images FIGURE 1A FIGURE 1B FIGURE 2A FIGURE 2B

  11. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  12. Epidermal nevus syndrome with hypermelanosis and chronic hyponatremia.

    PubMed

    Yu, T W; Tsau, Y K; Young, C; Chiu, H C; Shen, Y Z

    2000-02-01

    Epidermal nevus syndrome is seldom encountered, and its association with hypermelanosis and the chronic syndrome of inappropriate antidiuretic hormone secretion (SIADH) has never been reported. A male neonate who developed intractable seizures and hyponatremia soon after birth is reported. He had alopecic patches on the scalp at birth. Large areas of skin hyperpigmentation, and epidermal nevi developed gradually. The clinical picture of hypotonic hyponatremia, high urine osmolality, elevated urine sodium, and euvolemia was compatible with SIADH. The seizures did not correlate with the hyponatremia, and no other cause for the seizures could be identified. The hyponatremia became chronic and was treated with a direct supply of sodium chloride. The development of the patient was markedly delayed at the last visit when he was 1 year of age. It is suggested that hypermelanosis and chronic SIADH may also be a variant presentation of epidermal nevus syndrome.

  13. Congenital Melanocytic Nevus Syndrome: A Case Series.

    PubMed

    Recio, A; Sánchez-Moya, A I; Félix, V; Campos, Y

    2017-01-19

    Congenital melanocytic nevus syndrome (CMNS) is the result of an abnormal proliferation of melanocytes in the skin and central nervous system caused by progenitor-cell mutations during embryonic development. Mutations in the NRAS gene have been detected in many of these cells. We present 5 cases of giant congenital melanocytic nevus, 3 of them associated with CMNS; NRAS gene mutation was studied in these 3 patients. Until a few years ago, surgery was the treatment of choice, but the results have proved unsatisfactory because aggressive interventions do not improve cosmetic appearance and only minimally reduce the risk of malignant change. In 2013, trametinib was approved for use in advanced melanoma associated with NRAS mutations. This drug, which acts on the intracellular RAS/RAF/MEK/pERK/MAPK cascade, could be useful in pediatric patients with CMNS. A better understanding of this disease will facilitate the development of new strategies.

  14. Basal cell nevus syndrome - close-up of palm (image)

    MedlinePlus

    ... skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This ... close-up of the pits found in the palm of an individual with basal cell nevus syndrome.

  15. Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.

    PubMed

    Singal, A; Vohra, S; Sharma, R; Bhatt, S

    2016-06-08

    Blue rubber bleb nevus syndrome is a rare clinical entity. A 13-year-old Indian boy presented with characteristic cutaneous lesions, gastrointestinal malformations, skeletal involvement and pulmonary stenosis. Diagnosis was confirmed on skin biopsy, radiographic evaluation, colonoscopy and echocardiography. Echocardiography revealed pulmonary stenosis, an association hitherto undescribed. Detailed evaluation in a patient of blue rubber bleb nerves syndrome is mandatory.

  16. Blue Rubber Bleb Nevus Syndrome: Promising Response To Sirolimus.

    PubMed

    Akyuz, Canan; Susam-Sen, Hilal; Aydin, Burca

    2017-01-15

    Blue rubber bleb nevus syndrome is a rare disease involving venous malformations. We present a 6-year-old female with the syndrome, and consumptive coagulopathy. After management with sirolimus, symptoms resolved. Sirolimus may be a valuable option for reducing bleeding complications and cosmetic sequelae for the patients with this syndrome.

  17. Epidermal nevus syndrome with hypophosphatemic rickets in a young girl.

    PubMed

    Sukkhojaiwaratkul, Dabuswinee; Mahachoklertwattana, Pat; Poomthavorn, Preamrudee

    2014-07-01

    Epidermal nevus syndrome (ENS) is a rare congenital disorder. It is characterised by epidermal nevi and abnormalities of multiple organs, including central nervous system, skeleton, cardiovascular and genitourinary systems and eyes. Hypophosphatemic rickets-associated ENS has rarely been reported. We report a 46-month-old girl who presented with a classical feature of hypophosphatemic rickets. Examination of skin revealed multiple melanocytic nevi at her trunk, face and both arms with verrucous plaques at both axillae and neck, and yellow plaques at the back along Blaschko's lines. Histopathology of the skin lesions was compatible with epidermal nevi and nevus sebaceous. Therefore, the diagnosis of ENS was made. Apart from typical rickets, the skeletal X-rays interestingly displayed fibrous dysplasia-like lesions along right femur, tibia and fibula. Hypophosphatemic rickets was treated with alfacalcidol and phosphate solution. After 3 months of treatment, clinical improvement of hypophosphatemic rickets was clearly demonstrated. Her blood chemistries were normalised at 5 months following the treatment. In conclusion, hypophosphatemic rickets is a rare presentation of ENS. Our patient also demonstrated an additional abnormal bone finding, fibrous dysplasia-like lesions, associated with rachitic changes. This highlights heterogeneity of this condition and importance of thorough evaluation of patients with ENS. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  18. MR imaging of blue rubber bleb nevus syndrome.

    PubMed

    Jorizzo, J R; Amparo, E G

    1986-01-01

    This report describes the use of magnetic resonance imaging in the evaluation of a patient with blue rubber bleb nevus syndrome, a rare entity consisting of multiple cutaneous and visceral hemangiomas. The bright signal obtained on T2-weighted images is probably the result of slow flow or thrombosis, typically present in these lesions, and allows for easy recognition.

  19. Blue rubber bleb nevus syndrome: a rare multisystem affliction.

    PubMed

    Sangwan, Ankita; Kaur, Sarbjit; Jain, V K; Dayal, Surabhi

    2015-07-15

    About 200 cases of blue rubber bleb nevus syndrome (BRBNS) have been reported in the literature. The disorder affects both sexes equally and the occurrence is mostly sporadic except for a few reports of cases with autosomal dominant inheritance pattern. Herein we report an 11-year-old girl with progressive BRBNS and onset at 5 years of age.

  20. Nevus comedonicus: a case series.

    PubMed

    Ferrari, Bruno; Taliercio, Vanina; Restrepo, Paola; Luna, Paula; Abad, María Eugenia; Larralde, Margarita

    2015-01-01

    Twelve previously unreported cases of nevus comedonicus are presented. Characteristic closely grouped dilated follicular openings with horny plugs that mimic comedones led to the diagnosis. One patient had nevus comedonicus syndrome and there were cases with atypical locations and unusual complications of this condition. We also highlight clinical associations and therapeutic options. © 2014 Wiley Periodicals, Inc.

  1. Histopathology in the iris-nevus (Cogan-Reese) syndrome.

    PubMed

    Radius, R L; Herschler, J

    1980-06-01

    A 23-year-old-woman had iris-nevus (Cogan-Reese) syndrome characterized by unilateral glaucoma with peripheral anterior synechiae, multiple iris nodules, and ectopic Descemet's membrane. A surgical specimen excised from the involved eye was examined by light and electron microscopy. A cuticular membrane covered both the anterior and posterior surfaces of the iris in this specimen. On the anterior surface of the iris, many projections of apparently normal iris stroma pierced or were surrounded by this membrane. On the posterior surface of the iris, this membrane was associated with a monolayer of cuboidal cells.

  2. Papular Epidermal Nevus with “Skyline” Basal Cell Layer Syndrome – Natural Course: Case Report and Literature Review

    PubMed Central

    Zahn, Carole Anouk; Itin, Peter

    2017-01-01

    Papular epidermal nevus with “skyline” basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease. Another hypothesis is that genetic mutation can occur in a mendelian trait or through a paradominant inheritance. PMID:28203156

  3. [Dysplastic melanocytic nevus].

    PubMed

    Bierhoff, E

    2015-02-01

    Dysplastic nevus is still a controversial entity both clinically and histologically. The occurrence of dysplastic nevus especially in the context of dysplastic nevus cell syndrome is associated with an increased risk for melanoma. The following minimal histological criteria should be fulfilled: nests of melanocytes varying in size and shape, bridging and confluent, proliferation of single melanocytes basal and suprabasal, cytoplasmic and nuclear atypia of melanocytes and subepidermal fibroplasia. The biological behavior (common nevus variant or precursor of melanoma?) is difficult to evaluate by presently available methods. The further development of new molecular biology techniques may allow a better prognosis of dysplastic nevi in an objective and reproducible manner. Against this background complete excision followed by clinical surveillance has to be recommended for the routine practice.

  4. Basal cell nevus syndrome. Presentation of six cases and literature review.

    PubMed

    Díaz-Fernández, José María; Infante-Cossío, Pedro; Belmonte-Caro, Rodolfo; Ruiz-Laza, Luis; García-Perla-García, Alberto; Gutiérrez-Pérez, José Luis

    2005-04-01

    Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented.

  5. First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities

    PubMed Central

    Ullah, Waqas; Shahzad, Muhammad A; Sadiq, Muhammad Aslam; Ahmad, Ejaz; Khan, Sana

    2016-01-01

    Epidermal nevus syndrome (ENS) is a term used to describe the occurrence of an epidermal nevus in association with other extra-cutaneous developmental anomalies, most commonly involving the nervous and musculoskeletal systems. The nevus is classified on the basis of the main component which may be keratinocytic, sebaceous, follicular, apocrine, or eccrine. Most patients who present with ENS is at the time of birth, though some become apparent later in life. This case describes a young female who presented with seizures and cognitive impairment along with a linear epidermal nevus on the midline of her face. The presence of the nevus prompted brain imaging which showed cortical dysplasia, multiple hamartomas in the temporal lobe, thalamus, and periventricular regions along with cerebellar atrophy and Dandy-Walker variant. To our knowledge, this is the first case in which three different types of brain lesions were found in the same patient. PMID:28083460

  6. Phakomatosis Pigmentovascularis Associated With Sturge–Weber Syndrome, Ota Nevus, and Congenital Glaucoma

    PubMed Central

    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-01-01

    Abstract Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis. We describe 3 cases of PPV combined with bilateral Sturge–Weber syndrome (SWS), Ota nevus, and congenital glaucoma. Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb. Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma

  7. Mixed vascular nevus syndrome: a report of four new cases and a literature review

    PubMed Central

    Polizzi, Agata; Strano, Serena; Schepis, Carmelo; Morano, Massimiliano; Belfiore, Giuseppe; Palmucci, Stefano; Foti, Pietro Valerio; Pirrone, Concetta; Sofia, Vito; David, Emanuele; Salpietro, Vincenzo; Mankad, Kshitij; Milone, Pietro

    2016-01-01

    Background Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i.e., Legg-Calvé-Perthes-like disease) and disorders of autoimmunity (i.e., diabetes, thyroiditis). In 2014, Happle proposed to name the syndrome with the eponym Ruggieri-Leech syndrome. Methods Review of the existing literature on nevus vascularis mixtus and information on our personal experience on new cases and follow-up of previously reported cases by some of us. Results The existing literature revealed 4 previous studies including 33 cases with an inferred purely cutaneous trait and 3 cases with a combination of paired vascular twin nevi and brain malformation of the Dyke-Davidoff-Masson type. Our personal experience includes 4 unpublished patients (1 female and 3 males; currently aged 2 to 34 years) seen and followed-up at our Institutions in Italy who had: paired vascular nevi involving either the face (n=2) or the face and parts of the body (n=2); facial asymmetry (n=4); mild to moderate facial dysmorphic features (n=2); developmental delay (n=3); seizures/stroke-like episodes and associated hemiplegia (n=4); muscular hypotrophy (n=2); mild to moderate hemispheric atrophy (n=4); skull osseous hypertrophy

  8. Proptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome.

    PubMed

    Gildener-Leapman, Juliana R; Rosenberg, Jamie B; Barmettler, Anne

    A 15-month-old boy with left congenital proptosis presented to the emergency department with melena. Upper GI endoscopy and magnetic resonance angiography revealed vascular lesions, consistent with gastrointestinal tract manifestations of blue rubber bleb nevus syndrome. MRI revealed vascular malformations in both orbits, with mass effect on the left side. The patient was started on a trial of the antiangiogenic agent sirolimus (also known as rapamycin), and after 6 months of treatment showed clinical improvement in proptosis supported by radiologic evidence of regression in the larger, left orbital mass, with stability of the smaller, right orbital mass. There are 11 published cases of orbital blue rubber bleb nevus syndrome in the English literature. To our knowledge, this is the first reported case of successful, long-term treatment with sirolimus causing a reduction in the size of an orbital vascular malformation.

  9. [Inflammatory linear verrucous epidermal nevus. Clinical and histopathological aspects of 7 cases].

    PubMed

    Kuri, R; Ruíz Maldonado, R; Tamayo, L

    1978-01-01

    The inflammatory linear verrucous nevus is a recently described variety of epidermal nevus clinically and histologically characterized by an inflammatory component. The lesion stars at birth or at early age, pruritus is constant. Histologically the picture is psoriasiform. The therapeutic response is poor. Seven cases are presented. Associated extracutaneous alterations were presented in four of them.

  10. Blue rubber bleb nevus syndrome with knee joint disorder.

    PubMed

    Doi, Takehiko; Masumoto, Natsuko; Sonoda, Motoshi; Nakayama, Hideki; Mizuno, Yuji

    2016-08-01

    Blue rubber bleb nevus syndrome (BRBNS) involves cutaneous vascular malformation characterized by multiple venous malformations. This commonly affects the skin and gastrointestinal tract. BRBNS is associated with anemia and occasionally involves orthopedic manifestations. A 6-year-old boy was referred to hospital for evaluation of anemia. He presented with a rubber-like soft-tissue mass in the left knee and the right side of the neck, recurrent pain, and fixed flexion contracture of the knee. Blood examination indicated consumption coagulopathy and anemia caused by not only iron-deficiency anemia but also microangiopathy. Endoscopy of the gastrointestinal tract indicated multiple bluish-black sessile venous malformations. Ultrasonography and magnetic resonance imaging of the knee showed intra-articular and intramuscular involvement. Based on these findings, BRBNS with knee joint disorder was diagnosed. With regard to vascular malformations, like other diseases such as inflammatory arthropathy, ultrasonography of the joint may become a new diagnostic approach for evaluating orthopedic manifestations. © 2016 Japan Pediatric Society.

  11. Linear Nevus Sebaceous Syndrome: Report of Two Cases and a Review of the Literature

    ERIC Educational Resources Information Center

    Lovejoy, Frederick H., Jr.; Boyle, William E., Jr.

    1973-01-01

    Described are two cases of males, first seen as 2-month-old infants and followed until 6 years of age, having linear nevus sebaceous syndrome, an abnormal condition manifested by skin lesions or fatty tumors in a particular formation and neurological impairment; also, 11 cases now reported are reviewed. (Author/MC)

  12. A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly

    PubMed Central

    Cornelius, Leema Pauline; Raju, Vivekasaravanan; Lalapet, Ravi A.

    2017-01-01

    Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC. PMID:28904588

  13. A Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly.

    PubMed

    Cornelius, Leema Pauline; Raju, Vivekasaravanan; Lalapet, Ravi A

    2017-01-01

    Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC.

  14. Blue rubber bleb nevus syndrome: a case report and literature review.

    PubMed

    Jin, Xue-Li; Wang, Zhao-Hong; Xiao, Xi-Bin; Huang, Lian-Sheng; Zhao, Xiao-Ying

    2014-12-07

    Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.

  15. Inhibiting the Hedgehog Pathway in Patients with the Basal-Cell Nevus Syndrome

    PubMed Central

    Tang, Jean Y.; Mackay-Wiggan, Julian M.; Aszterbaum, Michelle; Yauch, Robert L.; Lindgren, Joselyn; Chang, Kris; Coppola, Carol; Chanana, Anita M.; Marji, Jackleen; Bickers, David R.; Epstein, Ervin H.

    2012-01-01

    BACKGROUND Dysregulated hedgehog signaling is the pivotal molecular abnormality underlying basal-cell carcinomas. Vismodegib is a new orally administered hedgehog-pathway inhibitor that produces objective responses in locally advanced and metastatic basal-cell carcinomas. METHODS We tested the anti–basal-cell carcinoma efficacy of vismodegib in a randomized, double-blind, placebo-controlled trial in patients with the basal-cell nevus syndrome at three clinical centers from September 2009 through January 2011. The primary end point was reduction in the incidence of new basal-cell carcinomas that were eligible for surgical resection (surgically eligible) with vismodegib versus placebo after 3 months; secondary end points included reduction in the size of existing basal-cell carcinomas. RESULTS In 41 patients followed for a mean of 8 months (range, 1 to 15) after enrollment, the per-patient rate of new surgically eligible basal-cell carcinomas was lower with vismodegib than with placebo (2 vs. 29 cases per group per year, P<0.001), as was the size (percent change from baseline in the sum of the longest diameter) of existing clinically significant basal-cell carcinomas (−65% vs. −11%, P = 0.003). In some patients, all basal-cell carcinomas clinically regressed. No tumors progressed during treatment with vismodegib. Patients receiving vismodegib routinely had grade 1 or 2 adverse events of loss of taste, muscle cramps, hair loss, and weight loss. Overall, 54% of patients (14 of 26) receiving vismodegib discontinued drug treatment owing to adverse events. At 1 month, vismodegib use had reduced the hedgehog target-gene expression by basal-cell carcinoma by 90% (P<0.001) and diminished tumor-cell proliferation, but apoptosis was not affected. No residual basal-cell carcinoma was detectable in 83% of biopsy samples taken from sites of clinically regressed basal-cell carcinomas. CONCLUSIONS Vismodegib reduces the basal-cell carcinoma tumor burden and blocks growth of

  16. Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation.

    PubMed

    Downey, Camila; Requena, Luis; Bagué, Silvia; Sánchez Martínez, Miquel Ángel; Lloreta, Josep; Baselga, Eulalia

    2016-07-01

    Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34(+) cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans.

  17. [A case of squamous cell carcinoma of the hard palate in a patient with basal cell nevus syndrome].

    PubMed

    Matsuo, Mioko; Rikimaru, Fumihide; Higaki, Yuichiro; Masuda, Muneyuki

    2014-06-01

    Basal cell nevus syndrome is an autosomal dominant disorder characterized by the developmental malformations and its carcinogenic nature. This syndrome shows various symptoms of multiple cutaneous basal cell carcinoma, ketatocystic odontogenic tumors, and inborn abnormalities in the bone and skin. Although basal cell nevus syndrome itself is a rare disorder, we experienced a very rare case in which squamous cell carcinoma of the oral cavity developed, and not cutaneous basal cell carcinoma. Only 4 similar cases have been reported in the English literature. The patient was a 33-year-old woman. She was diagnosed as having squamous cell carcinoma of the hard palate, and basal cell nevus syndrome in our hospital. The patient underwent surgery for squamous cell carcinoma of the hard palate, with postoperative chemoradiothetrapy. Since patients with this syndrome tend to form basal cell carcinoma when exposed to X-ray radiation, we perform radiotherapy with care.

  18. Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

    PubMed Central

    Toral-López, Jaime; Córdoba-Cabeza, Tania; Villeda, Maricela; Cortes-Castillo, Gabriel; Zenteno, Juan Carlos

    2013-01-01

    Oromandibular limb hypogenesis syndrome (OMLH; OMIM 103300) encompasses a group of uncommon disorders characterized by malformations in the mouth, jaw and limbs. It has been associated with various entities such as gastroschisis, pulmonary hypoplasia, intestinal atresia, renal agenesis, hydrocephalus and other syndromes. We describe a boy of Mexican origin with features of OMLH. In addition, brain magnetic resonance imaging shows cerebral hemiatrophy and hemihypoplasia and an ipsilateral arachnoid cyst, as well as microcephaly and frontal nevus flammeus were observed. This association, to the best of our knowledge, has not been previously reported in the literature and could be part of a same spectrum of vascular defect with OMLH. PMID:27625839

  19. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus

    PubMed Central

    Saroj, Gyanendra; Gangwar, Anshul

    2016-01-01

    ABSTRACT Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85. PMID:27274162

  20. Oral compound nevus.

    PubMed

    Cardoso, Lyzete Berriel; Consalaro, Alberto; da Silva Santos, Paulo Sérgio; da Silva Sampieri, Marcelo Bonifácio; Tinoco-Araújo, José Endrigo

    2014-02-18

    The melanocytic nevus is a benign and focal proliferation of nevus cells that can be congenital or acquired. Intraoral lesions are uncommon, and the etiology and pathogenesis are poorly understood. The occurrence rate of oral compound nevus is about 5.9% to 16.5% of all oral melanocytic nevi. A 22-year-old male patient presented with a dark brown macule on the buccal mucosa of the maxilla in the region of tooth 26. The lesion was elliptical, 0.7 x 0.5 cm, well circumscribed, asymptomatic, and the evolution time was unknown. An excisional biopsy was performed and microscopic analysis revealed nests of nevus cells in the epithelium and underlying connective tissue that were compatible with melanocytic compound nevus. Owing to the clinical similarity between oral melanocytic nevus and oral melanoma, a histopathological analysis is mandatory for definitive diagnosis.

  1. Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus*

    PubMed Central

    Karabulut, Yasemin Yuyucu; Şenel, Engin; Karabulut, Hacı Halil; Dölek, Yasemin

    2015-01-01

    BACKGROUND Hair follicle nevus is a rare, congenital hamartoma with follicular differentiation characterized histologically by numerous, tiny, mature hair follicles. Trichofolliculoma, the histopathological features of which are quite similar to those of hair follicle nevus, is also a hamartoma that differs from hair follicle. Accessory tragus is a relatively common, benign congenital abnormality of the external ear with an incidence rate of 1 to 10 per 1,000 live births. OBJECTIVE This study seeks to assess the discriminatory value of currently available, histological criteria in the differential diagnosis of hair follicle nevus, accessory tragi and trichofolliculoma. METHODS Twenty-one patients comprising 9 cases of hair follicle nevus, 8 accessory tragi patients and 4 trichofolliculoma cases, were recruited to perform the study. RESULTS There were 10 males and 11 females in the study group. No significant difference was observed between the three study groups in terms of age, gender or histopathological parameters such as density of hair follicles, subcutaneous fat score and presence of connective tissue framework. Cartilaginous component was seen in 8 cases that were diagnosed as accessory tragi, while central cyst and radiating hair follicles were seen in 4 cases which were diagnosed as trichofolliculoma. CONCLUSION The results of our study showed that diagnostic discrimination of these diseases could be made only with the clinicopathologic correlation because of their clinical and histopathological similarities. PMID:26375221

  2. Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome.

    PubMed

    Takasumi, Mika; Hikichi, Takuto; Takagi, Tadayuki; Sato, Masaki; Suzuki, Rei; Watanabe, Ko; Nakamura, Jun; Sugimoto, Mitsuru; Waragai, Yuichi; Kikuchi, Hitomi; Konno, Naoki; Watanabe, Hiroshi; Obara, Katsutoshi; Ohira, Hiromasa

    2014-12-16

    A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome (BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal (GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injection needle to reduce the pressure within it. Finally, argon plasma coagulation (APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic therapy, the esophageal ulcer healed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.

  3. CLINICAL PROFILE AND TRIGGERING FACTORS FOR ACQUIRED, BILATERAL NEVUS OF OTA-LIKE MACULES.

    PubMed

    Zhang, Qi; Tan, Cheng; Jiang, Pei; Yang, Gang

    2017-01-25

    BACKGROUD Acquired, bilateral nevus of Ota-like macules (ABNOM) is one of the most common dermal melanocytoses. Although there are some literatures on ABNOM, its clinical features and etiopathogenetic factors have not been fully understood. OBJECTIVE To determine the prevalence and characteristics of ABNOM among the Chinese patients. METHODS A survey was carried out using the clinical examination and a questionnaire on 3,212 first-time outpatients in our dermatology department, and 102 cases of ABNOM were subsequently enrolled. RESULTS The outpatient prevalence of ABNOM was 3.18%, and the age of the onset was 27.2 years on average. They all presented as speckled macules on the face alone or coexisted with patchy lesions (17.7%) or a band-like pigmentation (1.0%). Unprecedentedly, we found the zygomatic arch, the infraorbital, the cheek and the parotid region can be involved, and 52.0% cases had sclera pigmentation. ABNOM commonly coexisted with the pigmented fungiform papillae of the tongue, the melasma, the acne, prementstrual syndrome (female) and breast cystic hyperplasia(female) with the rates of 33.3%, 20.6%, 26.5%, 47.0% and 43.0% separately. Triggering factors' investigation disclosed screen irradiation (47.1%), pregnancy (32.0%), cosmetics (29.4%), sensitive skin (22.6%), and positive family histories (21.6%) were highly related. CONCLUSIONS Our study confirms that ABNOM is a relatively common disorder among adult Chinese's outpatients. It is commonly distributed over the malar, lateral forehead and temple's areas. The sclera pigmentation is another common finding that is overlooked in previous research. ABNOM is concomitant with melasma and some other disorders. Excessive sun exposure, hormonal disturbances and hereditary susceptibility are the main potential triggering factors of ABNOM.

  4. Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report.

    PubMed

    Wang, Yuanjie; Zhao, Xiaojun; You, Xiaolan

    2014-01-01

    Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal. Here, we report a BRBNS patient with concomitant intestinal intussusception who diagnosed by intraoperative endoscopy and ultimately managed using surgical resection. A 19-year-old boy was referred to urgent surgery for acute melena and stomachache. He had used to be a long-term iron user for undiagnosed chronic anemia and papules. Abdominal CT on admission demonstrated the presence of intestinal intussusception. The following exploratory laparotomy and intraoperative endoscopy revealed multiple gastrointestinal hemangiomas. The postoperative course was uneventful and pathological examination certified multiple cavernous hemangiomas in the resected gastrointestines.

  5. Progressive essential iris atrophy, Chandler's syndrome, and the iris nevus (Cogan-Reese) syndrome: a spectrum of disease.

    PubMed

    Shields, M B

    1979-01-01

    Progressive essential iris atrophy, Chandler's syndrome, and the iris nevus (Cogan-Reese) syndrome are considered to be variations of a single disease process, which is characterized by abnormalities of the cornea, anterior chamber angle, and iris. In each variation, the typical patient is a white woman with unilateral disease, negative family history, and an onset of symptoms in early to middle adulthood. Since the membrane theory of Campbell suggests that the disease is a fundamental abnormality of the corneal endothelium, rather than the iris, the term "iridocorneal endothelial syndrome," as proposed by Yanoff, may be an appropriate inclusive term for the spectrum of disease, although further study of the pathogenesis is needed. For each variation of the disease, corneal edema and secondary glucoma are both treated primarily by medical or surgical reduction of the intraocular pressure, although penetrating keratoplasty is occasionally required for cases with advanced corneal edema.

  6. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  7. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  8. Nevomelanocytic nevus with leukotrichia.

    PubMed

    Kaur, C; Thami, G P; Kaur, S

    2003-01-01

    Nevomelanocytic nevi exhibit clinical variations in morphology, location, texture and number related to age, race and geographical distribution. Development of age related greying of hair over pigmented melanocytic nevus is being discussed.

  9. Accuracy of self-reported nevus and pigmentation phenotype compared to clinical assessment in a population-based study of young Australian adults

    PubMed Central

    Cust, Anne E.; Pickles, Kristen M.; Goumas, Chris; Vu, Thao; Schmid, Helen; Nagore, Eduardo; Kelly, John; Aitken, Joanne F.; Giles, Graham G.; Hopper, John L.; Jenkins, Mark A.; Mann, Graham J.

    2015-01-01

    Background Awareness of individual risk may encourage improved prevention and early detection of melanoma. Methods We evaluated the accuracy of self-reported pigmentation and nevus phenotype compared to clinical assessment, and examined agreement between nevus counts from selected anatomical regions. The sample included 456 cases with invasive cutaneous melanoma diagnosed between ages 18-39 years and 538 controls from the population-based Australian Melanoma Family Study. Participants completed a questionnaire regarding their pigmentation and nevus phenotype, and attended a dermatologic skin examination. Results There was strong agreement between self-reported and clinical assessment of eye color (kappa, κ, =0.78, 95% confidence interval (CI) 0.74-0.81); and moderate agreement for hair color (κ =0.46, 95% CI 0.42-0.50). Agreement between self-reported skin color and spectrophotometer-derived measurements was poor (κ =0.12, 95% CI 0.08-0.16) to moderate (Spearman correlation rs=-0.37, 95% CI -0.32- to -0.42). Participants tended to under-estimate their nevus counts and pigmentation; men were more likely to under-report their skin color. The rs was 0.43 (95% CI 0.38-0.49) comparing clinical total body nevus counts with self-reported nevus categories. There was good agreement of quartile distributions of total body nevus counts with site-specific nevus counts, particularly on both arms. Conclusions Young adults have sub-optimal accuracy when assessing important risk characteristics including nevus numbers and pigmentation. Measuring nevus count on the arms is a good predictor of full body nevus count. Impact These results have implications for the likely success of targeted public health programs that rely on self-assessment of these factors. PMID:25628333

  10. A study on the clinical characteristics of treating nevus of Ota by Q-switched Nd:YAG laser.

    PubMed

    Yan, Liu; Di, Li; Weihua, Wang; Feng, Liu; Ruilian, Li; Jun, Zhou; Hui, Su; Zhaoxia, Ying; Weihui, Zeng

    2017-10-07

    The purpose of this study was to retrospectively analyze the clinical characteristics of treating nevus of Ota by Q-switched Nd:YAG laser in Laser Cosmetology Center of Department of Dermatology, the Second Hospital, Xi'an Jiaotong University. The data of 1168 patients of nevus of Ota were analyzed retrospectively, which included the correlation among lesion color, treatment sessions, sex, age, lesion types, and effect. The Q-switched (QS) Nd:YAG laser system had a higher number of treatment sessions which were positively associated with a better response to treatment. Other variables, including gender, age, the categorization of the lesion according to Tanino's classification, and the color of the lesion, were not associated with the response to treatment. The treatment of nevus of Ota with QS Nd:YAG laser is safe and effective, with rare complications.

  11. Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?

    PubMed

    Gamayunov, Boris N; Korotkiy, Nikolay G; Baranova, Elena E

    2016-06-01

    Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus spilus. Recent investigations show that somatic heterozygous HRAS mutations are present in the sebaceous and speckled lentiginous nevus tissues of patients with combination of two nevi.

  12. 755 nm alexandrite laser for the reduction of tumor burden in basal cell Nevus syndrome.

    PubMed

    Ibrahimi, Omar A; Sakamoto, Fernanda H; Tannous, Zeina; Anderson, R Rox

    2011-02-01

    Basal Cell Nevus syndrome (BCNS) is characterized by numerous basal cell carcinomas (BCCs). Multiple treatments with the pulsed dye laser (PDL) have been shown, in small studies, to be effective for the treatment of superficial and nodular BCCs. Like PDL, the alexandrite laser can be vessel-selective, but has the added advantage of deeper tissue penetration. We evaluated the utility of the alexandrite laser in reducing the tumor burden in BCNS with a single treatment. A case report and review of the literature are presented. A 45-year-old man with BCNS and a history of radiation therapy presented with an extraordinarily high tumor burden (>250 BCCs). As a compassionate measure to reduce the tumor burden, we investigated the utility of a single treatment of the long-pulsed 755 nm alexandrite laser to several BCC lesions. The treated lesions were evaluated at 2-month and 7-month clinical follow-up. Histopathologic analysis of a treated lesion was performed at 7-month clinical follow-up. At 2-month, and 7-month clinical follow-up, 15 of 18 treated lesions or about 83% of the alexandrite laser treated lesions showed a complete clinical response and appeared as hypopigmented areas with scarring. Histopathologic analysis of a treated lesion at 7-month clinical follow-up showed no evidence of residual tumor. The long-pulsed alexandrite laser may be helpful in significantly reducing tumor burden in difficult to manage BCNS patients with a single treatment. This provides a facile and practical treatment alternative for the management of challenging cases of BCNS. The limitation of this study is that it is a single case observation. Larger, prospective studies are needed to confirm these observations. Copyright © 2011 Wiley-Liss, Inc.

  13. Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.

    PubMed

    Bonaventura, Aldo; Liberale, Luca; Hussein El-Dib, Nadia; Montecucco, Fabrizio; Dallegri, Franco

    2016-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding. We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. At admission, the patient also presented fever and increased laboratory parameters of systemic inflammation (ferritin 308 mcg/L, C-reactive protein (CRP) 244 mg/L). A small bluish-colored lesion over the left ear lobe was observed. Fecal occult blood test was negative as well as other signs of active bleeding. Lower gastrointestinal endoscopy revealed internal hemorrhoids and multiple teleangiectasias that were treated with argon plasma coagulation. Videocapsule endoscopy demonstrated multiple bluish nodular lesions in the small intestine. Unexpectedly, chronic severe anemia due to systemic inflammation was diagnosed in an old anticoagulated patient with BRNBS. The patient was treated with blood transfusions, hydration, antibiotic treatment, and long-acting octreotide acetate, without stopping warfarin. Fever and inflammation disappeared without any acute gastrointestinal bleeding and improvement of hemoglobin levels at three-month follow up. This is the oldest patient presenting with chronic anemia, in which BRNBS was also diagnosed. Surprisingly, anemia was mainly caused by systemic inflammation instead of chronic gastrointestinal bleeding. However, we would recommend investigating this disease also in old subjects with mild signs and symptoms.

  14. Angioadnexocentric nevus.

    PubMed

    Hashimoto, Ken; Amano, Masahiro; Setoyama, Mitsuru

    2012-11-01

    An association of melanocytic nevus with eccrine glands has been well-documented and well-known as eccrine-centered nevus. Non-giant congenital nevi sometimes contain angiocentric and/or adnexocentric growth of nevus cells. Blood vessels are the most prominent site of nevus cell infiltration and propagation. In our specimen, the second was eccrine ducts. These selective sites of infiltration gave rise to a linear pattern of nevus cell distribution. Upon cursory examination at low magnification, vascular pathologies such as lymphocytic perivasculitis and particularly "coat-sleeve-like" pattern of erythema annulare centrifugum were suggested. S-100 immunostained perivascular and periductal lymphocytoid cells while CD3, 4 and 8 for T cells, and CD20 and 79a for B cells, were all negative. S-100 detected some invasive behavior of nevus cells penetrating into the vascular and ductal walls. However, Ki-67 was negative in all cells, suggesting a benign nature of this lesion. It is postulated that intradermal nevus cells of fetal skin freely migrate through mesenchymal tissue and stop when they hit barriers such as blood vessels and eccrine ducts and propagate in situ. How does this random migration theory explain the blood vessels and eccrine ducts getting the largest share of nevus cells? It is because they are the largest barriers of fetal dermis.

  15. Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review.

    PubMed

    Cohen, Philip R

    2014-08-17

    Basal cell carcinoma of the axilla, an area that is not usually exposed to the sun, is rare. Individuals with basal cell nevus syndrome, a disorder associated with a mutation in the patch 1 (PTCH1) gene, develop numerous basal cell carcinomas. To describe a woman with basal cell nevus syndrome who developed a pigmented basal cell carcinoma in each of her axilla and to review the features of axillary basal cell carcinoma patients with Goltz-Gorlin syndrome. Pubmed was used to search the following terms: axillary basal cell carcinoma and basal cell nevus syndrome. The papers and their citations were evaluated. Basal cell nevus syndrome patients with basal cell carcinoma of the axilla were observed in two women; this represents 2.5% (2 of 79) of the patients with axillary basal cell carcinoma. Both women had pigmented tumors that were histologically nonaggressive. The cancers did not recur after curettage or excision. Basal cell carcinoma of the axilla has only been described in 79 individuals; two of the patients were women with pigmented tumors who had basal cell nevus syndrome. Similar to other patients with axillary basal cell carcinoma, the tumors were histologically nonaggressive and did not recur following treatment. Whether PTCH1 gene mutation predisposes basal cell nevus patients to develop axillary basal cell carcinomas remains to be determined.

  16. Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome.

    PubMed

    Kiedrowicz, Magdalena; Kacalak-Rzepka, Anna; Królicki, Andrzej; Maleszka, Romuald; Bielecka-Grzela, Stanisława

    2013-10-01

    The Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a rare phakomatosis which comprises a nevus sebaceous of Jadassohn, seizures and developmental delay associated with a wide spectrum of extracutaneous abnormalities including neurological, skeletal, ocular, cardiovascular and urogenital defects. We are presenting a case of an 18-year-old patient with systemic features of the SFM syndrome and an extensive linear nevus sebaceous partially removed with a carbon dioxide (CO2) laser. The treatment options of skin lesions in patients with SFM are discussed.

  17. Hybrid SPECT-CT with 99mTc-labeled red blood cell in a case of blue rubber bleb nevus syndrome: added value over planar scintigraphy.

    PubMed

    Das, Kalpa Jyoti; Sharma, Punit; Naswa, Niraj; Soundararajan, Ramya; Kumar, Rakesh; Bal, Chandrasekhar; Malhotra, Arun

    2013-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare clinical entity characterized by multiple venous malformations (hemangiomas) of the skin and gastrointestinal tract. These hemangiomas usually cause episodes of occult gastrointestinal bleeding leading to iron deficiency anemia, and also carry a significant potential for serious hemorrhage. The 99mechnetium (99mTc)-labeled red blood cell scintigraphy has traditionally been utilized in the localization of occult bleeding sites in patients with suspected vascular malformations, angiodysplasia, and Meckel’s diverticulum. We report the incremental value of 99mTc-labeled red blood cell hybrid single-photon emission computed tomography-computed tomography (SPECT-CT) over planar scintigraphy alone in a 12-year-old female patient with BRBNS.

  18. Eccrine Poroma Arising within Nevus Sebaceous

    PubMed Central

    Girdwichai, Natnicha; Chanprapaph, Kumutnart; Vachiramon, Vasanop

    2016-01-01

    Nevus sebaceous is a congenital, benign hamartomatous lesion, characterized by a yellowish to skin-colored, hairless, verrucous plaque on the head and neck region. In later life, a secondary tumor, either benign or malignant, can develop within nevus sebaceous. Eccrine poroma developing on nevus sebaceous is extremely rare. There are few case reports of eccrine poroma developing within nevus sebaceous. We report a case of a 30-year-old female who presented with a congenital, hairless, verrucous, yellowish lesion on the scalp and an erythematous nodule arising within the yellowish lesion for 8 months. Her clinical presentation and histopathological findings were compatible with nevus sebaceous and eccrine poroma. PMID:27194975

  19. The deep penetrating nevus.

    PubMed

    Strazzula, Lauren; Senna, Maryanne Makredes; Yasuda, Mariko; Belazarian, Leah

    2014-12-01

    The deep penetrating nevus (DPN), also known as the plexiform spindle cell nevus, is a pigmented lesion that commonly arises on the head and neck in the first few decades of life. Histopathologically, the DPN is wedge-shaped and contains melanocytes that exhibit deep infiltration into the dermis. Given these features, DPN may clinically and histopathologically mimic malignant melanoma, sparking confusion about the appropriate evaluation and management of these lesions. The goal of this review is to summarize the clinical and histopathological features of DPN and to discuss diagnostic and treatment strategies for dermatologists.

  20. Nevus lipomatosus cutaneous superficialis*

    PubMed Central

    Carvalho, Gustavo de Sá Menezes; Cavalcanti, Silvana Maria de Morais; Herênio, Alzinira Souza; Teixeira, Márcia Almeida Galvão; de Alencar, Eliane Ruth Barbosa; Gonçalves, Sergio Paulo Mendes

    2016-01-01

    We report a case of nevus lipomatosus cutaneous superficialis of Hoffman-Zurhelle (NCLS), with multiple lesions, in a ten-year-old child. The NLCS is considered rare. The classical clinical presentation is characterized by multiple skin-colored or yellowish papules and nodules, which can have a linear distribution. Histologically, it is characterized by the presence of mature ectopic adipocytes in the dermis. The main therapeutic option is surgical excision. The classical Nevus lipomatosus cutaneous superficialis is reported in this case. PMID:28300914

  1. Genomic Assessment of Blitz Nevi Suggests Classification as a Subset of Blue Nevus Rather Than Spitz Nevus: Clinical, Histopathologic, and Molecular Analysis of 18 Cases.

    PubMed

    Isales, Maria C; Haugh, Alexandra M; Bubley, Jeffrey; Verzì, Anna E; Zhang, Bin; Kudalkar, Emily; Lee, Christina Y; Yazdan, Pedram; Guitart, Joan; Gerami, Pedram

    2017-04-27

    Blitz nevi/tumors are a distinct subset of melanocytic neoplasia which show mixed morphologic features of Spitz and blue nevus. Genomically, most blue nevi have GNAQ or GNA11 mutations while most Spitzoid neoplasms have either an HRAS mutation or translocations involving MET, ROS, BRAF, ALK1, NTRK1, and RET. The criteria used for the assessment of malignancy in blue and Spitzoid lesions are different, and these lesions have different prognostic markers. In this study, we assess the clinical, morphological, and genomic changes in 18 cases of Blitz nevi/tumors to better characterize this subset of neoplasms and determine their optimal genomic classification. Most lesions occurred on the extremities followed by the head and neck region typical of blue nevi. Histology showed most cases having a prominent plexiform growth pattern with cells aggregating around the adnexal structures and neurovascular bundles also typical of blue nevi. Using next generation sequencing, we detected the presence of somatic mutations in GNAQ or GNA11 in 4 of 7 cases (57%) of Blitz nevi with sufficient DNA available for sequencing. Normal skin samples in these 4 cases were sequenced to confirm that the GNAQ or GNA11 mutations were somatic mutations. All 4 cases were negative for immunohistochemical assessment for wild-type BRAF, RET, ALK, and NTRK1 and mutational analysis of HRAS was also negative in all cases. Hence, our study suggests that Blitz nevi/tumors are a distinct subset which genomically are best classified as a subset of blue nevi.

  2. Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.

    PubMed

    Pawlikowski, Jeffrey S; Brock, Claire; Chen, Sheau-Chiann; Al-Olabi, Lara; Nixon, Colin; McGregor, Fiona; Paine, Simon; Chanudet, Estelle; Lambie, Wendy; Holmes, William M; Mullin, James M; Richmond, Ann; Wu, Hong; Blyth, Karen; King, Ayala; Kinsler, Veronica A; Adams, Peter D

    2015-08-01

    Congenital melanocytic nevus (CMN) syndrome is the association of pigmented melanocytic nevi with extra-cutaneous features, classically melanotic cells within the central nervous system, most frequently caused by a mutation of NRAS codon 61. This condition is currently untreatable and carries a significant risk of melanoma within the skin, brain, or leptomeninges. We have previously proposed a key role for Wnt signaling in the formation of melanocytic nevi, suggesting that activated Wnt signaling may be synergistic with activated NRAS in the pathogenesis of CMN syndrome. Some familial pre-disposition suggests a germ-line contribution to CMN syndrome, as does variability of neurological phenotypes in individuals with similar cutaneous phenotypes. Accordingly, we performed exome sequencing of germ-line DNA from patients with CMN to reveal rare or undescribed Wnt-signaling alterations. A murine model harboring activated NRAS(Q61K) and Wnt signaling in melanocytes exhibited striking features of CMN syndrome, in particular neurological involvement. In the first model of treatment for this condition, these congenital, and previously assumed permanent, features were profoundly suppressed by acute post-natal treatment with a MEK inhibitor. These data suggest that activated NRAS and aberrant Wnt signaling conspire to drive CMN syndrome. Post-natal MEK inhibition is a potential candidate therapy for patients with this debilitating condition.

  3. AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model that Mimics Some Features of Basal Cell Nevus Syndrome.

    PubMed

    Kim, Arianna L; Back, Jung Ho; Zhu, Yucui; Tang, Xiuwei; Yardley, Nathan P; Kim, Katherine J; Athar, Mohammad; Bickers, David R

    2016-10-01

    Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli. Introducing Akt1 haplodeficiency in Ptch1(+/-) mice (Akt1(+/-) Ptch1(+/-)) significantly abrogated BCC growth. Similarly, pharmacological inhibition of AKT with perifosine, an alkyl phospholipid AKT inhibitor, diminished the growth of spontaneous and UV-induced BCCs. Our data demonstrate an obligatory role for AKT1 in BCC growth, and targeting AKT may help reduce BCC tumor burden in BCNS patients. Cancer Prev Res; 9(10); 794-802. ©2016 AACR.

  4. Histopathologic clues for the diagnosis of Wiesner nevus.

    PubMed

    Llamas-Velasco, Mar; Pérez-Gónzalez, Yosmar Carolina; Requena, Luis; Kutzner, Heinz

    2014-03-01

    The dermatologic hallmark of a recently described BAP1-associated cancer susceptibility syndrome is a dome-shaped nevus with distinct clinicopathological features, first delineated by Wiesner and colleagues. Here we describe the leading histopathological criteria of Wiesner nevus. Wiesner nevus is composed of various nevomelanocytic populations all showing different degrees of atypia ranging from hyperchromatic nevus cell-like to large atypical epithelioid cells. Immunohistochemically, Wiesner nevus is BAP1 negative and VE1 positive.

  5. Faun tail nevus

    PubMed Central

    Yamini, M.; Sridevi, K. S.; Babu, N. Prasanna; Chetty, Nanjappa G.

    2011-01-01

    Faun tail nevus is a posterior midline cutaneous lesion of importance to dermatologists as it could be a cutaneous marker for its underlying spine and spinal cord anomaly. We report a 13-year-old girl with excessive hair growth over the lumbosacral region since birth. There was associated spinal anomaly with no neurological manifestation affecting the lower spinal cord. The diagnosis was made on clinical basis. The patient reported for cosmetic disability. This case is reported for its clinical importance. PMID:23130210

  6. Faun tail nevus.

    PubMed

    Yamini, M; Sridevi, K S; Babu, N Prasanna; Chetty, Nanjappa G

    2011-01-01

    Faun tail nevus is a posterior midline cutaneous lesion of importance to dermatologists as it could be a cutaneous marker for its underlying spine and spinal cord anomaly. We report a 13-year-old girl with excessive hair growth over the lumbosacral region since birth. There was associated spinal anomaly with no neurological manifestation affecting the lower spinal cord. The diagnosis was made on clinical basis. The patient reported for cosmetic disability. This case is reported for its clinical importance.

  7. Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome.

    PubMed

    Nelson, Garrett; Iyengar, Sanjana; Shenefelt, Philip

    2016-01-01

    A six-year-old boy with Pallister-Killian syndrome (PKS) presented to the clinic with extensive lesions on his body (Figure 1). The patient was not born with the lesions but began developing them on the head and neck, extending to his lower extremities, at 2 years of age. These lesions had been evaluated by his primary care physician and were previously treated with desonide and ketoconazole cream with little improvement.

  8. Lasers and nevus of Ota: a comprehensive review.

    PubMed

    Shah, Vidhi V; Bray, Fleta N; Aldahan, Adam S; Mlacker, Stephanie; Nouri, Keyvan

    2016-01-01

    Nevus of Ota is a benign dermal melanocytic nevus that typically affects Asian children and women. The nevus presents as unilateral blue-gray hyperpigmented macules and patches scattered along the first and second divisions of the trigeminal nerve. Individuals with nevus of Ota experience emotional and psychosocial distress related to cosmetic disfigurement and often look for treatment options. Unfortunately, even when treated early, lesions of nevus of Ota are still difficult to treat. The use of lasers for the treatment of nevus of Ota lesions has become helpful in the management of dermal nevi. Currently, Q-switched (QS) lasers have been the most studied and demonstrated positive results for treatment of nevus of Ota. The purpose of this review article is to summarize the clinical efficacy and side effects associated with QS lasers and the treatment of nevus of Ota lesions.

  9. Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature.

    PubMed

    Kopniczky, Z; Kóbor, J; Maráz, A; Vajtai, I

    2001-01-01

    The nevus sebaceus syndrome (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling seizures. Despite the proneness of the dermal stigmata to eventually undergo neoplastic transformation, the malformative lesions of the central nervous system rarely evolve into frank tumors. We present the case of a 10-year-old girl with left-sided sebaceus nevi, ipsilateral enlargement of the skull, and a desmoplastic neuroepithelial tumor (DNET) in the right fronto-parietal area of the brain. The tumor was removed by surgery. Histologically, it corresponded to a mitotically active small-cell anaplastic astrocytoma with genuine desmoplasia. Investigative methods included immunohistochemical positivity for glial fibrillary acidic protein, lack of expression of neuronal markers, and ultrastructural documentation of sheaths of basal lamina and collagen around tumor cells. A survey of the literature of brain tumors associated with NSS revealed two cases of histologically verified pilocytic astrocytomas, and one each of a choroid plexus papilloma, a mixed glioma, and a meningioma, as well as a subependymal giant cell astrocytoma--the latter possibly in an overlap syndrome of NSS and tuberous sclerosis. We hypothesize that the tumor described herein, one involving both atypical differentiation and enhanced growth potential, is paradigmatic of neuropathological events to be expected in the NSS.

  10. Dermoscopy of halo nevus in own observation

    PubMed Central

    Szymszal, Jan

    2014-01-01

    Introduction Halo nevus (HN) is a rare dermatologic entity characterized by a typical whitish rim encircling the existing melanocytic nevus resembling a halo. The clinical picture is suggesting its diagnosis, but so far only several dermoscopic descriptions of halo nevus have existed in the PubMed database. Aim To present the clinical and dermoscopic characteristics of halo nevus observed in dermoscopy. Material and methods Fifteen patients were diagnosed clinically and dermoscopically with halo nevus during planned routine dermoscopic examinations of all melanocytic lesions in 2007–2013. All digital images stored in the computer database were analyzed retrospectively according to the procedure described in the study. The clinical and dermoscopic parameters such as the dermoscopic pattern, color of nevus, special features and description of the surrounding halo were analyzed statistically. Results We analyzed 22 halo nevi (9 in females, 13 in males) in 15 patients (7 females, 8 males) diagnosed during the dermoscopic examination. The mean age of patients during dermoscopic examinations was 18.2 years. Mean patients’ age at HN onset was 15.7 years. Halo nevi occurred the most often as a solitary lesion. The ratio of multiple halo nevi to solitary halo nevus was 5 : 10. Every third halo nevus was located on the posterior trunk upper. In 68.2% of HN cases, the surrounding rim (halo) was characterized by its homogenous, whitish color. Conclusions Dermoscopic patterns such as uniform globular and structureless constituted one-third each of them in all analyzed patterns. PMID:25097486

  11. Dermoscopy of halo nevus in own observation.

    PubMed

    Kamińska-Winciorek, Grażyna; Szymszal, Jan

    2014-06-01

    Halo nevus (HN) is a rare dermatologic entity characterized by a typical whitish rim encircling the existing melanocytic nevus resembling a halo. The clinical picture is suggesting its diagnosis, but so far only several dermoscopic descriptions of halo nevus have existed in the PubMed database. To present the clinical and dermoscopic characteristics of halo nevus observed in dermoscopy. Fifteen patients were diagnosed clinically and dermoscopically with halo nevus during planned routine dermoscopic examinations of all melanocytic lesions in 2007-2013. All digital images stored in the computer database were analyzed retrospectively according to the procedure described in the study. The clinical and dermoscopic parameters such as the dermoscopic pattern, color of nevus, special features and description of the surrounding halo were analyzed statistically. We analyzed 22 halo nevi (9 in females, 13 in males) in 15 patients (7 females, 8 males) diagnosed during the dermoscopic examination. The mean age of patients during dermoscopic examinations was 18.2 years. Mean patients' age at HN onset was 15.7 years. Halo nevi occurred the most often as a solitary lesion. The ratio of multiple halo nevi to solitary halo nevus was 5 : 10. Every third halo nevus was located on the posterior trunk upper. In 68.2% of HN cases, the surrounding rim (halo) was characterized by its homogenous, whitish color. Dermoscopic patterns such as uniform globular and structureless constituted one-third each of them in all analyzed patterns.

  12. The Ptch1DL mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome associated skeletal defects

    PubMed Central

    Feng, Weiguo; Choi, Irene; Clouthier, David E.; Niswander, Lee; Williams, Trevor

    2013-01-01

    Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. Employing an ENU-based screen for recessive mutations affecting craniofacial anatomy we isolated a mouse strain, Dogface-like (DL), with abnormal skull and snout morphology. Examination of the skull indicated that these mice developed craniosynostosis of the lambdoid suture. Further analysis revealed skeletal defects related to the pathology of basal cell nevus syndrome (BCNS) including defects in development of the limbs, scapula, ribcage, secondary palate, cranial base, and cranial vault. In humans, BCNS is often associated with mutations in the Hedgehog receptor PTCH1 and genetic mapping in DL identified a point mutation at a splice donor site in Ptch1. Using genetic complementation analysis we determined that DL is a hypomorphic allele of Ptch1, leading to increased Hedgehog signaling. Two aberrant transcripts are generated by the mutated Ptch1DL gene, which would be predicted to reduce significantly the levels of functional Patched1 protein. This new Ptch1 allele broadens the mouse genetic reagents available to study the Hedgehog pathway and provides a valuable means to study the underlying skeletal abnormalities in BCNS. In addition, these results strengthen the connection between elevated Hedgehog signaling and craniosynostosis. PMID:23897749

  13. Life-threatening pharyngeal edema after sclerotherapy of oral venous malformations in a patient with blue rubber bleb nevus syndrome.

    PubMed

    Lindsey, Scott F; Reiders, Brandon; Mechaber, Hilit F

    2013-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder characterized by multiple venous malformations of the skin and internal organs. Oral lesions are very common and occur in over half of the patients with this condition. Sclerotherapy is currently the first-line treatment modality of symptomatic cases due to its high efficacy and low rate of complications. We report the case of a 68-year-old male with BRBNS who presented with dysphagia and difficulty with speech due to prominent oral venous malformations. After the use of sclerotherapy with ethanolamine oleate to control his symptoms, the patient exhibited severe edema of the tongue and posterior pharyngeal wall which caused constriction of his airway. The patient was intubated, and remained so for 72 hours until his edema resolved. In addition to his oral lesions, the patient also exhibited other features of BRBNS including cutaneous, soft-tissue, gastrointestinal, and neurological manifestations of disease. Physicians should be aware of the potentially life-threatening complication of severe tongue and pharyngeal edema when using sclerotherapy for the treatment of oral vascular malformations. Additionally, dermatologists should be familiar with the many systemic manifestations which can be present in patients with BRBNS, as illustrated in this case.

  14. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  15. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  16. Donor dominance cures CHILD nevus.

    PubMed

    König, Arne; Skrzypek, Jan; Löffler, Harald; Oeffner, Frank; Grzeschik, Karl-Heinz; Happle, Rudolf

    2010-01-01

    Congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM 308050, CHILD) syndrome is an X-linked dominant, male-lethal, multisystem birth defect. Patients suffer from an inflammatory nevus that covers large areas, predominantly of one side of the body, with a sharp midline demarcation. Treatment of CHILD nevus is notoriously difficult. The aim of this study was to develop a novel surgical approach for this disorder. In 2 patients, the CHILD nevus was dermabraded, and the area was covered with split skin grafts obtained from a contralateral unaffected donor region. In a third patient, papillomatous, strawberry-like lesions on fingers and toes were excised, and the defects were covered with full-thickness grafts obtained from the unaffected left, gluteal area. Highly satisfying functional and cosmetic results were documented during a follow-up period ranging from 3 to 8 years. The favorable outcome, superior to that obtained by simple dermabrasion or extensive plastic surgery, can best be explained by the donor dominance of the grafted skin samples that carried, in all or most cells, the mutant X chromosome in an inactivated form. Copyright (c) 2010 S. Karger AG, Basel.

  17. Nevus Spilus (Speckled Lentiginous Nevus) in the Oral Cavity: Report of a Case and Review of the Literature.

    PubMed

    Torres, Karen G; Carle, Laura; Royer, Michael

    2017-01-01

    The congenital melanocytic nevus is a pigmented melanocytic lesion that presents at birth or shortly thereafter. It is commonly described on the skin, usually on the trunk and extremities. Only five intraoral cases of congenital melanocytic nevi have been described in the English literature. A nevus spilus (speckled lentiginous nevus) is a clinical variant of congenital melanocytic nevus. The authors present the case of a 19-year-old male with an intraoral nevus spilus. The anterior mandibular gingiva exhibited multiple speckled, pigmented papules and macules on a thickened, hyperplastic macular background. Microscopic examination revealed characteristic morphologic features of intramucosal nevi extending into the deep portions of the submucosa. Although other authors have reported similar clinical presentation in the oral mucosa, no other case reports were found in the English literature classifying an intraoral congenital nevus as an intraoral nevus spilus. The sixth case of an intraoral congenital melanocytic nevus and the first case subclassified as an intraoral nevus spilus (speckled lentiginous nevus) is reported, with a review of the literature.

  18. Ovarian fibromas in pediatric patients with basal cell nevus (Gorlin) syndrome.

    PubMed

    Ball, Allison; Wenning, Joan; Van Eyk, Nancy

    2011-02-01

    Gorlin syndrome is a rare genetic condition consisting of multiple basal cell nevi associated with other entities such as medulloblastoma, skeletal abnormalities, and ovarian fibromas. A 15-year-old girl presented with abdominal discomfort. Magnetic resonance imaging showed multiple bilateral solid adnexal masses, the largest measuring 5.5 cm × 6.1 cm × 5.6 cm. At laparoscopy, 10 ovarian fibromas, ranging from 3 mm to 7 cm in size, were removed from each ovary. Concurrent with her gynecologic course, she was found to have maxillary sinus cysts and multiple basal cell nevi. The patient's history was also significant for a medulloblastoma as an infant. Given this constellation of findings, a diagnosis of Gorlin syndrome was made. The development of ovarian fibromas in the pediatric population is rare. When diagnosed, the possibility of Gorlin syndrome must be considered. Furthermore, females with Gorlin syndrome would benefit from regular gynecologic surveillance. Copyright © 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  19. An Exploratory Clinical Trial of a Novel Treatment for Giant Congenital Melanocytic Nevi Combining Inactivated Autologous Nevus Tissue by High Hydrostatic Pressure and a Cultured Epidermal Autograft: Study Protocol

    PubMed Central

    Jinno, Chizuru; Sakamoto, Michiharu; Kakudo, Natsuko; Yamaoka, Tetsuji; Kusumoto, Kenji

    2016-01-01

    Background Giant congenital melanocytic nevi (GCMNs) are large brown to black skin lesions that appear at birth and are associated with a risk of malignant transformation. It is often difficult to reconstruct large full-thickness skin defects after the removal of GCMNs. Objective To overcome this difficulty we developed a novel treatment to inactivate nevus tissue and reconstruct the skin defect using the nevus tissue itself. For this research, we designed an exploratory clinical study to investigate the safety and efficacy of a novel treatment combining the engraftment of autologous nevus tissue inactivated by high hydrostatic pressurization with a cultured epidermal autograft (CEA). Methods Patients with congenital melanocytic nevi that were not expected to be closed by primary closure will be recruited for the present study. The target number of nevi is 10. The full-thickness nevus of the target is removed and pressurized at 200 MPa for 10 minutes. The pressurized and inactivated nevus is sutured to the original site. A small section of the patient’s normal skin is taken from around the nevus region and a CEA is prepared after a 3-week culturing process. The CEA is then grafted onto the engrafted inactivated nevus at four weeks after its retransplantation. The primary endpoint is the engraftment of the CEA at 8 weeks after its transplantation and is defined as being engrafted when the engraftment area of the inactivated nevus is 60% or more of the pretransplantation nevus area and when 80% or more of the transplanted inactivated nevus is epithelialized. Results The study protocol was approved by the Institutional Review Board of Kansai Medical University (No. 1520-2, January 5, 2016: version 1.3). The study opened for recruitment in February 2016. Conclusions This protocol is designed to show feasibility in delivering a novel treatment combining the engraftment of inactivated autologous nevus tissue and CEA. This is the first-in-man clinical trial of this

  20. Melanoma Arising in a Melanocytic Nevus.

    PubMed

    Martín-Gorgojo, A; Nagore, E

    2017-08-14

    The association of melanoma with a preexisting melanocytic nevus varies considerably between series, depending on whether the association is based on histological signs (4%-72%) or a clinically evident lesion (42%-85%). Histological association with a nevus correlates with favorable prognostic factors, whereas a clinical association correlates with unfavorable factors. In this review, we discuss the characteristics of nevus-associated melanoma from different perspectives: Whiteman's divergent pathway hypothesis for the development of cutaneous melanoma; and the factors involved in nevogenicity, including both the genetic and molecular factors involved in the development of the melanoma and its precursor lesions. Finally, a cumulative analysis of the 16 162 cases reported in the literature revealed that 29.8% of melanomas are histologically associated with a melanocytic nevus. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree.

    PubMed

    Panhuysen, Carolien I; Karban, Amir; Knodle Manning, Alisa; Bayless, Theodore M; Duerr, Richard H; Bailey-Wilson, Joan E; Epstein, Ervin H; Brant, Steven R

    2006-08-01

    Basal Cell Nevus Syndrome (BCNS) is an autosomal dominant disease. PTCH1 gene mutations have been found responsible in many but not all pedigrees. Inflammatory Bowel Disease (IBD) is a complex genetic disorder, disproportionate in Ashkenazim, and characterized by chronic intestinal inflammation. We revisited a large Ashkenazim pedigree, first reported in 1968, with multiple diagnoses of BCNS and IBD, and with a common genetic cause for both disorders proposed. We expanded the pedigree to four generations and performed a genome-wide linkage study for BCNS and IBD traits. Twelve members with BCNS, seven with IBD, five with both diagnoses and eight unaffected were genotyped. Both non-parametric (GENEHUNTER 2.1) and parametric (FASTLINK) linkage analyses were performed and a validation through simulation was performed. BCNS linked to chromosome 9q22 (D9S1120) just proximal to the PTCH1 gene (NPL=3.26, P=0.003; parametric two-point LOD=2.4, parametric multipoint LOD=3.7). Novel IBD linkage evidence was observed at chromosome 1p13 (D1S420, NPL 3.92, P=0.0047; parametric two-point LOD=1.9). Linkage evidence was also observed to previously reported IBD loci on 4q, (D4S2623, NPL 3.02, P=0.012; parametric two-point LOD=2.15), 10q23 (D10S1225 near DLG5, NPL 3.33, P=0.0085; parametric two-point LOD=1.3), 12 overlapping the IBD2 locus (D12S313, NPL 2.6, P=0.018; parametric two-point LOD=1.52), and 7q (D7S510 and D7S3046, NPL 4.06, P=0.0035; parametric two-point LOD=2.18). In this pedigree affected by both BCNS and IBD, the two traits and their respective candidate genetic loci segregate independently; BCNS maps to the PTCH1 gene and IBD maps to several candidate regions, mostly overlapping previously observed IBD loci.

  2. Divided or kissing nevus of the penis.

    PubMed

    Hardin, Carolyn A; Tieu, Kathy D

    2013-10-16

    The divided or kissing nevus is an unusual congenital melanocytic nevus. By definition, these nevi appear on skin that separates during embryological development. These lesions have been reported on the eyelids, fingers, and rarely the penis. We describe an 18 year old uncircumcised male who presented with an asymptomatic darkly pigmented patch on the glans penis. He reported that the lesion had appeared recently and was enlarging. Physical examination revealed a second symmetric lesion on the adjacent foreskin. Punch biopsy of the lesion on the glans penis showed abundant intradermal melanocytes devoid of mitoses and atypia, consistent with an intradermal melanocytic nevus. Based on the benign histologic nature and clinical exam, the lesion was diagnosed as a divided or kissing nevus of the penis. Proposed treatments include excision and grafting as well as Nd:YAG laser therapy. However, these patients may be safely monitored with regular follow-up skin examinations because there is minimal risk of malignant transformation.

  3. Carbon dioxide laser versus erbium:YAG laser in treatment of epidermal verrucous nevus: a comparative randomized clinical study.

    PubMed

    Osman, Mai Abdel Raouf; Kassab, Ahmed Nazmi

    2017-08-01

    A verrucous epidermal nevus (VEN) is a skin disorder that has been treated using different treatment modalities with varying results. Ablative lasers such as carbon dioxide laser (CO2) and erbium:yttrium-aluminum-garnet (Er:YAG) laser have been considered as the gold standard for the treatment of epidermal nevi. To evaluate and compare the efficacy, postoperative wound healing and side effects of pulsed CO2 laser and Er:YAG laser for the treatment of verrucous epidermal nevi. Twenty patients with localized VEN were randomly divided into two groups. Group 1 was administered CO2 laser and group 2 underwent Er:YAG laser treatment. A blinded physician evaluated the photographs and dermoscopic photomicrographs for the efficacy and possible side effects. All patients received one treatment session and were followed up over a 6-month period. Both lasers induced noticeable clinical improvement, but there were no significant differences between two lasers in treatment response, patient satisfaction, duration of erythema and side effects. The average time to re-epithelialization was 13.5 days with CO2 and 7.9 days with Er:YAG laser (p< .0005). No scarring was observed in Er:YAG laser group and no lesional recurrence was detected in CO2 laser group since treatment. Apart from re-epithelialization, both lasers showed equivalent outcomes with respect to treatment response, patient satisfaction, side effects and complications.

  4. Evaluation and management of an unusual congenital nevus

    PubMed Central

    Menter, M. Alan

    2017-01-01

    Abnormal findings on routine skin exams are common and can be a source of unnecessary medical workup if a clinician is unfamiliar with the finding. Sebaceous nevi are rare skin lesions that are most often benign but may be associated with a multiorgan syndrome or local skin cancer. Dermatologists and primary care physicians may encounter these on routine exams and thus must be comfortable with diagnosis and management. We present the clinical characteristics of a benign sebaceous nevus to help aid in diagnosis of these lesions and outline suggestions for appropriate management options.

  5. Papular epidermal nevus with "skyline" basal cell layer (PENS) with extracutaneous findings.

    PubMed

    Rodríguez-Díaz, Eloy; Gonzalvo, Pablo; Colmenero, Isabel; Requena, Luis; Hernández-Martín, Angela; Torrelo, Antonio

    2013-01-01

    Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psychomotor delay. The association of PENS with extracutaneous manifestations suggests the possibility of a new type of epidermal nevus syndrome, for which we propose the term PENS syndrome.

  6. Proteus Syndrome with Arteriovenous Malformation

    PubMed Central

    Asilian, Ali; Kamali, Atefeh Sadat; Riahi, Nabet Tajmir; Adibi, Neda; Mokhtari, Fatemeh

    2017-01-01

    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome. PMID:28401074

  7. Atypical cellular blue nevus or malignant blue nevus?*

    PubMed Central

    Daltro, Luise Ribeiro; Yaegashi, Lygia Bertalha; Freitas, Rodrigo Abdalah; Fantini, Bruno de Carvalho; Souza, Cacilda da Silva

    2017-01-01

    Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients. PMID:28225968

  8. Dysplastic nevus: Fact and fiction.

    PubMed

    Rosendahl, Cliff O; Grant-Kels, Jane M; Que, Syril Keena T

    2015-09-01

    The term "dysplastic nevus" (DN) implies that this nevus exists as a distinct and defined entity of potential detriment to its host. We examine the current data, which suggest that this entity exists as histologically and possibly genetically different from common nevus, with some overlapping features. Studies show that a melanoma associated with a nevus is just as likely to arise in a common nevus as in DN. Furthermore, there is no evidence that a histologically defined DN evolves into a melanoma or that the presence of 1 or more DN on an individual patient confers any increased melanoma risk. We suggest that the term "dysplastic nevus" be abandoned so that the focus can shift to confirmed and relevant indicators of melanoma risk, including high nevus counts and large nevus size.

  9. Alagille syndrome: clinical perspectives

    PubMed Central

    Saleh, Maha; Kamath, Binita M; Chitayat, David

    2016-01-01

    Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. PMID:27418850

  10. Horner syndrome: clinical perspectives

    PubMed Central

    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  11. Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome

    SciTech Connect

    Seetharam, S.; Waters, H.L.; Seidman, M.M.; Kraemer, K.H. )

    1989-11-01

    The hereditary dysplastic nevus syndrome (DNS) is an autosomal dominant disorder in which affected individuals have increased numbers of dysplastic (premalignant) nevi and a greater than 100-fold increased risk of developing cutaneous melanoma. Epstein-Barr virus-transformed lymphoblastoid cell lines from patients with hereditary DNS have been shown to be hypermutable to UV radiation. To examine the mechanism involved in this UV hypermutability, we used a shuttle vector plasmid, pZ189, which carries a 160-base pair marker gene, supF, and can replicate in human cells. pZ189 was treated with UV radiation and transfected into DNS6BE, a lymphoblastoid cell line from a patient with hereditary DNS. Plasmid survival after UV was similar with the DNS6BE line and with a lymphoblastoid cell line from a normal donor. Plasmid mutation frequency was greater with the DNS line in accord with the DNS cellular hypermutability. Base sequence analysis was performed on 69 mutated plasmids recovered from the DNS line. There were significantly more plasmids with single base substitution mutations (P less than 0.01) in comparison to UV-treated plasmids passed through normal fibroblasts. pZ189 hypermutability and an increased frequency of single base substitutions was previously found with a cell line from a melanoma-prone xeroderma pigmentosum patient. These differences may be related to the increased melanoma susceptibility in both DNS and xeroderma pigmentosum.

  12. Hypersensitivity of skin fibroblasts from basal cell nevus syndrome patients to killing by ultraviolet B but not by ultraviolet C radiation

    SciTech Connect

    Applegate, L.A.; Goldberg, L.H.; Ley, R.D.; Ananthaswamy, H.N. )

    1990-02-01

    Basal cell nevus syndrome (BCNS) is an autosomal dominant genetic disorder in which the afflicted individuals are extremely susceptible to sunlight-induced skin cancers, particularly basal cell carcinomas. However, the cellular and molecular basis for BCNS is unknown. To ascertain whether there is any relationship between genetic predisposition to skin cancer and increased sensitivity of somatic cells from BCNS patients to killing by UV radiation, we exposed skin fibroblasts established from unexposed skin biopsies of several BCNS and age- and sex-matched normal individuals to either UV-B (280-320 nm) or UV-C (254 nm) radiation and determined their survival. The results indicated that skin fibroblasts from BCNS patients were hypersensitive to killing by UV-B but not UV-C radiation as compared to skin fibroblasts from normal individuals. DNA repair studies indicated that the increased sensitivity of BCNS skin fibroblasts to killing by UV-B radiation was not due to a defect in the excision repair of pyrimidine dimers. These results indicate that there is an association between hypersensitivity of somatic cells to killing by UV-B radiation and the genetic predisposition to skin cancer in BCNS patients. In addition, these results suggest that DNA lesions (and repair processes) other than the pyrimidine dimer are also involved in the pathogenesis of sunlight-induced skin cancers in BCNS patients. More important, the UV-B sensitivity assay described here may be used as a diagnostic tool to identify presymptomatic individuals with BCNS.

  13. Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of cultured fibroblasts from patients with dysplastic nevus syndrome and hereditary cutaneous malignant melanoma

    SciTech Connect

    Smith, P.J.; Greene, M.H.; Adams, D.; Paterson, M.C.

    1983-01-01

    The dysplastic nevus syndrome (DNS) is a preneoplastic melanocyte abnormality which occurs in families affected by hereditary cutaneous malignant melanoma (HCMM). A putative role of host-environmental interactions in the etiology of hereditary melanoma has been strengthened by the recent finding that fibroblasts derived from HCMM/DNS patients demonstrated enhanced sensitivity to u.v.-irradiation in vitro. An extension of these studies is reported in which we have examined the invitro responses to a model environmental carcinogen, 4-nitroquinoline 1-oxide (4NQO), of six non-tumor skin fibroblast strains from HCMM/DNS patients representing five families. Three of the six HCMM/DNS strains showed enhanced cell killing with sensitivities greater than that of a xeroderma pigmentosum (XP) variant strain but less than those of ataxia telangiectasia and XP Group D cell strains. The inhibition and recovery of de novo DNA synthesis, together with the expression of repair synthesis, following 4NQO exposure appeared to be normal in HCMM/DNS strains, irrespective of their subsequent clonogenic potential. The data point to a metabolic anomaly which may contribute to the carcinogenic risk of the melanoma prone preneoplastic state presented by some DNS patients.

  14. A randomized, split-face clinical trial of Q-switched alexandrite laser versus Q-switched Nd:YAG laser in the treatment of bilateral nevus of Ota.

    PubMed

    Wen, Xiang; Li, Yong; Jiang, Xian

    2016-01-01

    Different types of Q-switched (QS) lasers have been used successfully to treat nevus of Ota. The purpose of this study was to compare the clinical efficacy and complication of QS alexandrite (QS Alex) laser versus QS neodymium:yttrium aluminum garnet (Nd:YAG) (QS Nd:YAG) laser for bilateral nevus of Ota. Seventeen patients with bilateral nevus of Ota were treated randomly with QS Alex in one half of face and QS Nd:YAG in the other half with an interval of at least 3 months between each. Subjective assessment was made by both patients and dermatologists. Patients were also examined for evidence of complications. All patients experienced improvement (p < 0.05). There was no statistically significant difference between the two sides (p > 0.05). The pain after a short period of laser therapy was more severe for QS Alex than for QS Nd:YAG laser. Vesicles developed in 1 patient after QS Alex therapy. Both QS Alex laser and QS Nd:YAG laser were equally effective at improving bilateral nevus of Ota. Patients tolerate QS Nd:YAG laser better than QS Alex laser.

  15. Comparison of Characteristics of Acquired Bilateral Nevus of Ota-like Macules and Nevus of Ota According to Therapeutic Outcome

    PubMed Central

    Lee, Bangjin; Kim, You Chan; Kang, Won Hyoung

    2004-01-01

    Both acquired bilateral nevus of Ota-like macules (ABNOM) and nevus of Ota are characterized by the presence of dermal melanocytes. There are no differences in the method of treatment, however, postinflammatory hyperpigmentation (PIH) develops more often in ABNOM than in nevus of Ota following treatment. We investigated the differences in the development of PIH after treatment between ABNOM and nevus of Ota, and the histopathologic differences in the PIH. A total of 82 patients with ABNOM (n=47) and nevus of Ota (n=35) were treated with Q-switched alexandrite laser and followed up 2 weeks and 3 months later. Biopsies were performed on lesional skin before treatment. The distribution and the amount of melanin pigments were visualized with Fontana-Masson stain, and the distribution and the depth of melanocytes were measured by GP-100 (NK1-beteb) stain. Clinically, there was more erythema and PIH in ABNOM than in nevus of Ota. Histopathologically, intradermal melanocytes were clustered in groups and dispersed perivascularly in ABNOM, while melanocytes were scattered evenly throughout the dermis in nevus of Ota. Both groups show that when there is a statistically significant number of melanocytes in the perivascular area, erythema and PIH occur after laser therapy. In conclusion, indirect vessel injury in addition to perivascular clustering melanocytes might be considered the cause of increased PIH after treatment in ABNOM. PMID:15308847

  16. Incidentally Detected Blue Nevus of Endocervix: a Case Report

    PubMed Central

    Bhat, Shaila Talengala; Shivamurthy, Archana; Kini Rao, Anuradha Calicut

    2015-01-01

    Blue nevi are uncommon, asymptomatic lesions of the uterine cervix. These lesions are not often detected clinically or on colposcopy. Careful histopathological examination is required. The nevus cells are said to originate from the immature melanoblasts of the neural crest. These lesions need to be differentiated from malignant melanoma and melanosis of the cervix. We present here a case report of incidentally detected cervical blue nevus in a 52 year old lady. PMID:26351493

  17. Nevus and melanoma paraconsistent classification.

    PubMed

    Souza, Sheila; Abe, Jair Minoro

    2014-01-01

    This paper presents the first studies on Nevus and Melanoma classification by using Paraconsistent Artificial Neural Network (PANN). Nevus is usually a small growth on the skin while Melanoma is a dangerous skin cancer. The proposed automated process classifies a set of medical images as Nevus and Melanoma based on a methodology grounded on PANN which is able to deal with conflicting, paracomplete and imprecise data directly without trivialization. Such methodology performed promising results considering only border features to classify the sample.

  18. Flat pigmented macules on sun-damaged skin of the head/neck: junctional nevus, atypical lentiginous nevus, or melanoma in situ?

    PubMed

    Zalaudek, Iris; Cota, Carlo; Ferrara, Gerardo; Moscarella, Elvira; Guitera, Pascale; Longo, Caterina; Piana, Simonetta; Argenziano, Giuseppe

    2014-01-01

    The clinical recognition of lentigo maligna (LM) in the mottled chronic sun-damaged skin can be challenging, because it shares many clinical features with other pigmented macules that commonly arise on sun-damaged skin. These include solar lentigo, flat seborrheic keratosis, and pigmented actinic keratosis, but almost never "nevus." The reason nevus is not included in the differential diagnosis of LM can be explained by the fact that the stereotypical appearance of a facial nevus differs remarkably from that of an LM. Facial nevi in adults are usually nodular, dome-shaped, well-defined, and hypopigmented (i.e., intradermal nevus of the Miescher type), whereas LM typically appears as a flat, ill-defined, and pigmented macule. Although this concept based on clinical observations sounds reasonable, clinicians apply it often only unconsciously and accept a given histopathologic diagnosis of a "junctional or lentiginous nevus" of a flat pigmented facial macule without the necessary criticism about its clinicopathologic validity.

  19. Choroidal nevus: a review of prevalence, features, genetics, risks, and outcomes.

    PubMed

    Chien, Jason L; Sioufi, Kareem; Surakiatchanukul, Thamolwan; Shields, Jerry A; Shields, Carol L

    2017-05-01

    To review the prevalence, clinical features, imaging findings, cytogenetics, and risks and outcomes of choroidal nevus. Choroidal nevus is a benign melanocytic tumor, often discovered incidentally on ophthalmic examination. This lesion is generally well circumscribed and pigmented. The prevalence of choroidal nevus in postequatorial region in United States adults (≥40 years old) is approximately 5%. Choroidal nevus is associated with higher lifetime unopposed estrogen and greater BMI. In population-based evaluation, the mean nevus basal dimension is approximately 1.25 mm. Giant nevus (basal dimension ≥10 mm) carries greater risk for malignant transformation. Imaging modalities for evaluation of choroidal nevus include ultrasonography, fundus autofluorescence, and optical coherence tomography (OCT). Fluorescein angiography is occasionally employed to detect multifocal pinpoint leaks or choroidal neovascular membrane. Recently, OCT angiography demonstrated nevus with minimal overlying macular microvascular changes compared with melanoma. Cytogenetically, GNA11 or GNAQ mutations have been documented in uveal melanoma in 83% and in some cutaneous nevus subtypes. Further mutations lead to the development of melanoma at a rate of one of 8845 cases. Risk factors for transformation of nevus into melanoma are recalled by the mnemonic 'To find small ocular melanoma using helpful hints daily' representing thickness (T) more than 2 mm, subretinal fluid (F), symptoms (S) of flashes/floaters/blurred vision, orange (O) lipofuscin pigment, margin (M) less than 3 mm from optic disk, ultrasonographic hollowness (UH), halo (H) absence, and drusen (D) absence. The presence of three or more risk factors implies more than 50% chance for transformation to melanoma within 5 years. A new, online ocular oncology reading center can help judge nevus risk. Choroidal nevus is a common intraocular lesion, found predominantly in Whites. This mass carries a small risk (<1%) for

  20. Antiphospholipid syndrome (Hughes syndrome): 10 clinical topics.

    PubMed

    Hughes, G R V

    2010-04-01

    This year in Galveston, Texas, Silvia Pierangeli hosts the 13th International Congress on Antiphospholipid Antibodies. Twenty-six years after the first antiphospholipid syndrome meeting, the number of interested colleagues has multiplied, and the subject has become more scientifically understood. So also has the clinical picture. In this short contribution, I will highlight a number of clinical observations which may, or may not, contribute to our understanding of antiphospholipid syndrome.

  1. Nodal combined blue nevus and benign nevus cells in multiple axillary sentinel nodes in a patient with breast carcinoma: report of a case.

    PubMed

    Begum, S M K Nahar; Lomme, Michele; Quddus, M Ruhul

    2014-09-01

    Combined blue nevus and benign nevus cells were identified in the same sentinel lymph node. Blue nevus alone was also present in an additional sentinel lymph node in the same axilla in a patient who underwent needle localization, wide local excision, and sentinel lymph node biopsy for her pT1cN1mi(sn)M(na) invasive duct carcinoma of the breast. Of the 4 sentinel lymph nodes, 1 showed micrometastasis and 2 other lymph nodes showed blue nevus involving the capsule and trabeculae of the nodes. The patient had no significant previous clinical history of any skin tumors and had a negative clinical examination for malignant melanoma or pigmented skin lesions after the diagnosis of nodal blue nevus. To our knowledge, this is the first case report of combined blue nevi involving multiple sentinel lymph nodes in the same axilla. An equally interesting finding is the presence of benign nonpigmented nevus cells in continuation with the blue nevus in the same node.

  2. Acquired Bilateral Nevus of ota-like Macules with Mucosal Involvement: A New Variant of Hori's Nevus

    PubMed Central

    Bhat, Ramesh M; Pinto, Hyacinth Peter; Dandekeri, Sukumar; Ambil, Srinath Madapally

    2014-01-01

    Acquired bilateral nevus of Ota-like macules (ABNOM) or Hori's nevus, a rare form of acquired dermal melanocytoses, presents as bilateral facial blue-gray macules without ocular or mucosal involvement. This condition is mostly found in women of Asian descent and usually appears in the fourth or fifth decade of life. Pathogenesis is unknown, though few theories have been proposed. Effective treatment has been found to be achieved with pigment-specific lasers. Herein, we report a case of Hori's nevus with mucosal involvement. A 42-year-old male patient, presented to us with blue-gray discoloration on either side of his face, both eyes, and in the mouth since the age of one year. Histopathological examination showed clusters and singly dispersed pigmented melanocytes within the upper and mid-dermis regions. Special staining of melanocytes using Masson-Fontana stain was positive. Diagnosis of Hori's nevus was made by correlating clinical and histopathological findings. Patient was informed of his treatment options, but refused treatment. A similar case of Hori's nevus with mucosal involvement has not been reported so far. PMID:24891664

  3. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  4. Clinical recognition of Rett syndrome.

    PubMed

    Philippart, M

    1986-01-01

    Key manifestations helpful in diagnosing Rett syndrome include progressive loss of previously acquired psychomotor skills, apraxia with loss of use of hands and legs, and "handwashing" automatisms. Four types of clinical presentation can be described: a neurodegenerative disorder, an autistic syndrome, a Lennox-Gastaut syndrome, and a chronic encephalopathy. Carbamazepine currently appears to be the anticonvulsant of choice. The mild lactic and pyruvic acidosis along with the ultrastructural abnormalities of mitochondria in brain and liver biopsies point to a generalized disorder of energy metabolism.

  5. "Compound blue nevus": a reappraisal of "superficial blue nevus with prominent intraepidermal dendritic melanocytes" with emphasis on dermoscopic and histopathologic features.

    PubMed

    Ferrara, Gerardo; Argenziano, Giuseppe; Zgavec, Borut; Bartenjev, Igor; Staibano, Stefania; De Rosa, Gaetano; Soyer, H Peter

    2002-01-01

    We describe 5 cases of "compound blue nevus" (CBN) ("superficial blue nevus with prominent intraepidermal dendritic melanocytes," "Kamino nevus"). Dermoscopically in 2 of 4 cases the bluish pigmentation characteristic of blue nevi was centrally replaced by a black lamella, with black dots and brown globules also observed in one case, thus revealing a structural asymmetry suggestive of melanoma. Histopathologically, pigmented parakeratosis was the underlying histopathologic finding of black lamella and dots/globules. Immunohistochemistry highlighted the unique histopathologic feature of CBN, namely, single dendritic melanocytes at the dermoepidermal junction with striking intraepidermal prolongations. Our findings confirm that CBN is a distinctive variant of blue nevus that may mimic cutaneous melanoma both clinically and dermoscopically.

  6. [Clinical guideline 'Turner syndrome'].

    PubMed

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium.

  7. Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

    PubMed Central

    Russell, Bianca; Johnston, Jennifer J; Biesecker, Leslie G.; Kramer, Nancy; Pickart, Angela; Rhead, William; Tan, Wen-Hann; Brownstein, Catherine A; Clarkson, L Kate; Dobson, Amy; Rosenberg, Avi Z; Schrier Vergano, Samantha A.; Helm, Benjamin M.; Harrison, Rachel E; Graham, John M

    2016-01-01

    Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported. PMID:25921057

  8. Verification of the Inactivation of Melanocytic Nevus in vitro Using a Newly Developed Portable High Hydrostatic Pressure Device.

    PubMed

    Morimoto, Naoki; Jinno, Chizuru; Mahara, Atsushi; Kakudo, Natsuko; Fujisato, Toshia; Kusumoto, Kenji; Suzuki, Shigehiko; Yamaoka, Tetsuji

    2016-01-01

    High hydrostatic pressure (HHP) technology is a physical method for inactivating tissue. We reported that nevus specimens were inactivated after HHP at 200 MPa and that the inactivated nevus could be used as autologous dermis for covering skin defects. In this study, we verified the inactivation of nevus specimens using a newly developed portable HHP device which will be used in a clinical trial. Nevus tissue specimens were obtained from 5 patients (mean age 7.2 years, range 1-19). We cultured fibroblasts and nevus cells from the tissue specimens and then evaluated their inactivation after HHP at 200 MPa by confirming the attachment of the suspensions and by the live/dead staining of the suspensions, through the dissociation of the cells on chamber slides and by the live/dead staining of the remaining cells. The cells were also quantitatively evaluated by WST-8 assay. We then confirmed the inactivation of the nevus specimens after HHP using explant culture. Our results indicated that fibroblasts and nevus cells were inactivated after HHP at 200 MPa, with the exception of a small percentage of green-colored cells, which reflected the remaining activity of the cellular esterases after HHP. No cells migrated from the nevus specimens after HHP at 200 MPa. We verified the inactivation of fibroblasts and nevus cells cultured from nevus specimens, and in the nevus samples themselves after pressurization at 200 MPa using this device. This device could be used in clinical trials for giant congenital melanocytic nevi and may thus become useful in various medical fields.

  9. Pfeiffer syndrome: a clinical review.

    PubMed

    Moore, M H; Cantrell, S B; Trott, J A; David, D J

    1995-01-01

    The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.

  10. Eccrine nevus with epidermal changes.

    PubMed

    Imai, S; Nitto, H

    1983-01-01

    A 22-year-old woman with papular lesions on the extensor aspect of the left leg, present since childhood, with linear distribution is described. Histology of the lesion showed malformed eccrine sweat apparatus with ductal hyperplasia, in addition to the serrated configuration of the epidermis. It appears that the lesions of the eccrine apparatus in this case represent a nevus.

  11. Synchronous melanomas arising within nevus spilus.

    PubMed

    Brito, Maria Helena Toda Sanches de; Dionísio, Cecília Silva Nunes de Moura; Fernandes, Cândida Margarida Branco Martins; Ferreira, Joana Cintia Monteiro; Rosa, Maria Joaninha Madalena de Palma Mendonça da Costa; Garcia, Maria Manuela Antunes Pecegueiro da Silva

    2017-01-01

    Nevus spilus is a melanocytic cutaneous lesion consisting of a light brown background macule with numerous superimposed darker maculopapular speckles. Melanoma arising from a nevus spilus is rare, with less than 40 cases reported to date. The absolute risk for malignant transformation is not well defined, lacking a standardized management approach. We report a new case of melanoma arising from nevus spilus, with the additional peculiarity of multifocality. We offer our recommendations for the management of the condition.

  12. Synchronous melanomas arising within nevus spilus*

    PubMed Central

    de Brito, Maria Helena Toda Sanches; Dionísio, Cecília Silva Nunes de Moura; Fernandes, Cândida Margarida Branco Martins; Ferreira, Joana Cintia Monteiro; Rosa, Maria Joaninha Madalena de Palma Mendonça da Costa; Garcia, Maria Manuela Antunes Pecegueiro da Silva

    2017-01-01

    Nevus spilus is a melanocytic cutaneous lesion consisting of a light brown background macule with numerous superimposed darker maculopapular speckles. Melanoma arising from a nevus spilus is rare, with less than 40 cases reported to date. The absolute risk for malignant transformation is not well defined, lacking a standardized management approach. We report a new case of melanoma arising from nevus spilus, with the additional peculiarity of multifocality. We offer our recommendations for the management of the condition. PMID:28225967

  13. Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex.

    PubMed

    Yazdan, Pedram; Haghighat, Zahra; Guitart, Joan; Gerami, Pedram

    2013-01-01

    Epithelioid blue nevus (EBN) was first described in patients with Carney complex (CNC) and subsequently shown to also occur sporadically. Over 50% of patients with CNC harbor mutations in the gene PRKAR1A, which codes for protein kinase A regulatory subunit 1α (R1α) involved in the signaling pathway regulating melanogenesis and melanocytic proliferation. Immunohistochemical expression of R1α has been shown to be absent in the majority of pigmented epithelioid melanocytomas and all CNC-associated EBNs but present in melanomas and other melanocytic nevi. We have observed several examples of EBN occurring in chronically sun-damaged (CSD) skin with a predominance of epithelioid morphology but also containing a component of fusiform and conventional blue nevus cells, which we have termed epithelioid and fusiform blue nevus of CSD skin. Several of these cases demonstrated notable pleomorphism and nuclear atypia with rare mitotic activity raising concern for the possibility of melanoma; however, the clinical outcomes, detailed histologic review, and molecular results were most consistent with a benign melanocytic neoplasm. We report our clinical, histopathologic, immunohistochemistry, and fluorescence in situ hybridization experience with this distinct entity of epithelioid and fusiform blue nevus and demonstrate that it is a unique subtype of blue nevus occurring on CSD skin with a higher frequency of an associated conventional blue nevus component compared with EBN and without association with CNC or loss of R1α expression typically found in pigmented epithelioid melanocytoma and CNC-associated EBN. We also postulate that the epithelioid pattern may represent a subclone of the conventional blue nevus component induced by chronic UV damage.

  14. Faun tail nevus with aplasia cutis congenita.

    PubMed

    Chander, Ram; Jain, Arpita; Jaykar, Kranti; Garg, Taru; Anand, Rama

    2009-01-01

    Faun tail nevus describes abnormal lumbar hypertrichosis, which may overlie on occult spinal abnormality and be a marker of asymptomatic underlying spinal dysraphism. We report a case of faun tail nevus, with dermal pits along with aplasia cutis congenita and asymptomatic spina bifida occulta, tethered conus, and diastematomyelia, a constellation of findings which to our knowledge has not been previously reported.

  15. Mutational status of nevus associated-melanomas

    PubMed Central

    Shitara, D.; Tell-Martí, G.; Badenas, C.; Enokihara, M.M.S.S.; Alós, L.; Larque, A.B.; Michalany, Nilceo; Puig-Butille, J.; Carrera, C.; Malvehy, J.; Puig, S.; Bagatin, E.

    2015-01-01

    Introduction Melanoma origin has always been a debated subject, as well as the role of adjacent melanocytic nevi. Epidemiological and histopathological studies point to melanomas arising either de novo or from a nevus. Methods Sixty-one melanomas found in association with a preexisting nevus were microdissected, after careful selection of cell subpopulations and submitted to Sanger sequencing of the BRAF, NRAS, C-KIT, PPP6C, STK19 and RAC1 genes. Each gene was evaluated twice in all samples by sequencing or by sequencing and another confirmation method, allele-specific fluorescent polymerase chain reaction (PCR) and capillary electrophoresis detection, or by SNaPshot Analysis. Only mutations confirmed via two different molecular methods or twice by sequencing were considered positive. Results The majority of cases presented concordance of mutational status between melanoma and the associated nevus for all 6 genes (40/60; 66.7%). Nine cases presented concomitant BRAF and NRAS mutations, including one case, in which both the melanoma and the adjacent nevus harbored V600E and Q61K double mutations. In two cases, both melanoma and associated nevus, located on acral sites were BRAF mutated, including an acral lentiginous melanoma. Conclusions This is the largest nevus-associated melanoma series molecularly evaluated to our knowledge. The majority of melanomas and adjacent nevi in our sample share the same mutational profile, corroborating the theory that the adjacent nevus and melanoma are clonally related and that melanoma originated within a nevus. PMID:25857817

  16. Huge Nevus Lipomatosus Cutaneous Superficialis on Back: An Unusual Presentation.

    PubMed

    Das, Dipti; Das, Anupam; Bandyopadhyay, Debabrata; Kumar, Dhiraj

    2015-01-01

    Nevus lipomatosus cutaneous superficialis (NLCS) is a benign dermatosis, histologically characterized by the presence of mature ectopic adipocytes in the dermis. We hereby report a case of a 10-year-old boy who presented with multiple huge swellings on the scapular regions and lower back. The lesions were surmounted by small papules, along with peau-d orange appearance at places. Histology showed features consistent with NLCS. The case is being reported for the unusual clinical presentation.

  17. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

    PubMed

    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  18. [Clinical aspects of Marfan syndrome].

    PubMed

    Belsing, Tina Zimmermann; Lund, Allan Meldgaard; Søndergaard, Lars; Friis-Hansen, Lennart; Abildstrøm, Steen Zabell

    2011-01-31

    Marfan syndrome (MFS) and MFS-related diseases are inherited connective tissue disorders involving several organ systems. The diagnosis of MFS is difficult as the many symptoms overlap with those of other systemic connective tissue diseases. The phenotype is progressive. Effective surgical therapy and standardized follow-up programs have led to an improved lifespan for the affected individuals. Selective angiotensin II, type 1 (AT1) blockers may improve several manifestations of MFS, but the outcome of clinical trials is presently unknown. This review describes the importance of a coordinated strategy for diagnosis, treatment and follow-up.

  19. Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority

    PubMed Central

    Prakash, S. M. Ravi; Gupta, Swati; Kamarthi, Nagaraju; Goel, Sumit

    2015-01-01

    Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well recognized. We report a rare case of inflammatory linear verrucous epidermal nevus syndrome along with regional odontodysplasia; and to the best of our knowledge this is the second case reported in the literature. PMID:26752881

  20. Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients.

    PubMed

    Jagtap, Sujit; Srinivas, G; Harsha, K J; Radhakrishnan, Neelima; Radhakrishnan, Ashalatha

    2013-06-01

    Sturge-Weber syndrome is a heterogeneous neurocutaneous syndrome with facial and leptomeningeal angiomas, glaucoma, seizures, stroke-like episodes, and mental retardation. The authors critically evaluated the clinical manifestations, outcome, and natural history in 30 patients with Sturge-Weber syndrome followed up from January 1985 to May 2010. Of the patients, 15 were males, age at diagnosis ranged from 1 month to 43 years. Typical port-wine stain nevus occurred in 26 (86%), it was bilateral in 2 (8%), and it was absent in 4 (4%). Nine patients had glaucoma (30%), 3 required surgery. Four had transient hemiparesis. All patients had seizures; they were well controlled in 22 (73.3%); in 8 they remained drug resistant. Three patients underwent surgery and became seizure-free. Of the 17 who had mental subnormality, 14 (82.4%) had seizure onset before 2 years. An early age at seizure onset and those with drug-resistant seizures had more severe degree of mental subnormality. Uncontrolled seizures, mental subnormality, visual handicap, and cosmetic disfiguration were the major impediments in life.

  1. An Orbital Malignant Melanoma Arising in Cellular Blue Nevus in a Patient with Nevus of Ota

    PubMed Central

    Ouyang, Jie; Cartwright, Mont

    2016-01-01

    Melanomas arising from orbital melanocytic proliferations are exceedingly rare. Many questions remain regarding their development and malignant transformation. We report on a 45-year-old Caucasian woman with a nevus of Ota that presented with visual disturbances involving her right eye and was found to have a biopsy-proven cellular blue nevus in the orbital space. Five years later, she presented with proptosis and worsening symptoms. Biopsy at that time showed a cellular blue nevus with areas of melanoma. We conclude that patients with a nevus of Ota or an orbital cellular blue nevus, particularly Caucasians, should be monitored for ocular/orbital involvement and followed closely for signs of rapid growth. There may be a progressive evolution to melanoma from a blue nevus.   PMID:27699140

  2. Agminated blue nevus - Case report*

    PubMed Central

    Lisboa, Alice Paixão; Silvestre, Keline Jácome; Pedreira, Renata Leite; Alves, Natália Ribeiro de Magalhães; Obadia, Daniel Lago; Azulay-Abulafia, Luna

    2016-01-01

    Blue nevi are benign melanocytic lesions located in the deeper reticular dermis, consequence of failure of melanocytic migration into the dermal-epidermal junction from the neural crest. Lesions are usually asymptomatic and solitary, but may present in a multiple or agminated (grouped) pattern. The agminated subtype is formed when bluish-pigmented lesions cluster together in a well-defined area. Lesions can be flat or raised. We report the case of a patient who presented multiple bluish macules (1-3 mm in diameter) grouped on the left upper back. Dermoscopy and anatomic pathological examination were consistent with blue nevus. PMID:27828645

  3. Clinical pharmacology of old age syndromes

    PubMed Central

    Broadhurst, C; Wilson, K C M; Kinirons, M T; Wagg, A; Dhesi, J K

    2003-01-01

    Several syndromes occur in old age. They are often associated with increased mortality and in all there is a paucity of basic and clinical research. The recent developments in the clinical pharmacology of three common syndromes of old age (delirium, urinary incontinence, and falls) are discussed along with directions for future research. PMID:12919174

  4. Asperger syndrome, violent thoughts and clinically isolated syndrome.

    PubMed

    Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

    2010-12-01

    A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature.

  5. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis*

    PubMed Central

    MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. PMID:26312661

  6. Photoletter to the editor: Blue nevus with satellitosis mimicking melanoma. Contribution of dermoscopy and reflectance confocal microscopy.

    PubMed

    Lourari, Siham; Lamant, Laurence; Viraben, Roland; Paul, Carle; Meyer, Nicolas

    2012-06-30

    Blue nevus is an acquired benign melanocytic nevus that can undergo malignant transformation. We report a 70-year-old man who presented with a recently enlarged long-term blue nodule on his scalp. He reported onset of new satellitosis around the lesion. Although clinically thought to be a malignant melanoma, histopathological, dermoscopic and reflectance confocal-microscopy examinations did not confirm this diagnosis.

  7. Squamous cell carcinoma arising in a multiple verrucous epidermal nevus*

    PubMed Central

    Yarak, Samira; Machado, Taila Yuri Siqueira; Ogawa, Marilia Marufuji; Almeida, Mirian Luzia da Silva; Enokihara, Milvia Maria Simões e Silva; Porro, Adriana Maria

    2016-01-01

    Verrucous epidermal nevi are hamartomatous lesions of the epidermis that, unlike other epidermal nevi (such as sebaceous nevus or nevus comedonicus), are rarely associated with malignant neoplasms. The majority of squamous cell carcinoma develop in linear or multiple epidermal nevus and rarely in solitary epidermal nevus. In general, the prognosis is favorable. We report a case of well-differentiated invasive squamous cell carcinoma arising from a multiple verrucous epidermal nevus. Although there is no consensus on prophylactic removal of epidermal nevus, its removal and biopsy should be considered if changes occur. PMID:28300931

  8. Genetics Home Reference: giant congenital melanocytic nevus

    MedlinePlus

    ... noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes . It is present from ... called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that ...

  9. [Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].

    PubMed

    Ida, Hiroaki

    2015-10-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA). We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β(IL-1β) and IL-18 maturation. Especially, NLRP3 inflammasomes may play a crucial role in the initiation and progression of FMF and CAPS. Recently, it was reported that NETs (neutrophil extracellular traps) derived from neutrophils may also play an important role in the pathogenesis of FMF. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the pathogenesis and clinical examination of these syndromes.

  10. Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

    PubMed

    Sprague, Jessica; Landau, Joseph W

    2016-09-01

    Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.

  11. The inflammatory infiltrate of melanocytic nevus.

    PubMed

    Fernandez-Flores, Angel; Saeb-Lima, Marcela

    2014-01-01

    Melanocytic nevi are frequently accompanied by inflammatory cells of different types, in varied amounts and distributed in different patterns. In the current report, we review the knowledge on inflammation seen in different types of melanocytic nevi. As an additional contribution, we studied the lymphocytic inflammatory component of Duperrat nevus, as well as the cytotoxic component of Sutton nevus, two contributions that we have not found in the literature. We conclude that: (a) Duperrat nevus has a mixed inflammatory reaction that includes histiocytes, foreign-body multinucleated giant cells, polymorphonuclears, lymphocytes (predominantly CD4+) and plasma cells (commonly abundant); (b) common melanocytic nevi with reactive inflammatory infiltrate usually show a CD4+ predominant population; (c) Meyerson nevus commonly shows an inflammatory infiltrate mainly made up of CD4+ T-cells; (d) Sutton nevus with halo phenomenon is accompanied by a dense inflammatory infiltrate with lymphocytes in a CD4:CD8 ratio varying from 1:1 to 1:3 and in which most of the CD8+ T-cells do not express cytotoxic markers; (e) Wiesner nevus commonly shows a spare lymphocytic infiltrate but the nature of the infiltrate has not yet been investigated.

  12. Treatment of nevus of Ota by the Q-switched alexandrite laser.

    PubMed

    Alster, T S; Williams, C M

    1995-07-01

    The Q-switched alexandrite laser (755 nm, 100 nanoseconds) selectively targets and destroys cutaneous pigment such as that found in dermal pigmented lesions and tattoos. The nevus of Ota is a benign dermal melanocytic lesion, which, due to its large size and periocular location, has been notoriously difficult to treat. Utilizing the principles of selective photothermolysis, the alexandrite laser could effect an excellent treatment for nevus of Ota. To report the effectiveness of the Q-switched alexandrite laser in treating nevus of Ota. Seven patients with nevus of Ota were treated with the Q-switched alexandrite laser (755 nm, 100 nanoseconds) with energy densities ranging from 4.75 to 7.0 J/cm2 at 8-12-week intervals. Response to therapy was evaluated through independent observation and rating of sequential photographs by two blinded observers. Histologic examinations of lesional skin biopsies before and after completion of laser treatments were performed. An average of two laser treatments were required to effect an average clinical improvement of 50%. Five patients showed 100% lesional clearance after an average of five treatments. No scarring, textural changes, or pigmentary side effects were observed in treated skin. Histology of laser-irradiated lesions revealed elimination of upper dermal pigmentation without epidermal disruption, and rare melanophages and pigmented spindle cells in the deep reticular dermis. No lesional recurrences were observed up to 1 year following treatment. The Q-switched alexandrite laser can effectively eliminate nevus of Ota without untoward side effects, such as scarring.

  13. Reduction in nevus biopsies in patients monitored by total body photography.

    PubMed

    Truong, Amanda; Strazzulla, Lauren; March, Jordon; Boucher, Kenneth M; Nelson, Kelly C; Kim, Caroline C; Grossman, Douglas

    2016-07-01

    Total body photography (TBP) can facilitate identification of new and changing lesions. By confirming that particular nevi are stable, TBP may reduce nevus biopsies. We sought to determine the number and rate of nevus biopsies before and after TBP, and the factors associated with increased biopsy rate during monitoring by TBP. We reviewed records of all patients in 2 pigmented lesion clinics (PLCs) who received TBP and had 2 or more follow-up visits over a period of 2 years or longer. Before PLCs and TBP, the mean number of nevus biopsies per patient was 5.92 (589 patients) at a mean rate of 1.62 per year (160 patients). After TBP in PLCs, the same patients averaged 1.56 biopsies at a mean rate of 0.34 per year (P < 2 × 10(-16)). The entire cohort (926 patients) averaged similarly low post-TBP biopsy rates of less than 0.2 per year and per visit. Biopsy rates after TBP were positively correlated with decreased age, male gender, and family history of melanoma, but not nevus number. Some information was not available for some patients. Patients at risk for melanoma experienced a 3.8-fold reduction in nevus biopsies after TBP. Younger male patients with family history of melanoma had higher biopsy rates after TBP. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  14. Clinical course of Tourette syndrome.

    PubMed

    Bloch, Michael H; Leckman, James F

    2009-12-01

    Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics lasting at least a year in duration. Children with TS often experience comorbid conditions such as obsessive-compulsive disorder (OCD) and attention-deficit disorder. The goal of this article was to review the long-term clinical course of tics and comorbid conditions in children with TS. We conducted a traditional literature search to locate relevant articles regarding long-term outcome and prognosis in TS and tic disorders. Tics typically have an onset between the ages of 4 and 6 years and reach their worst-ever severity between the ages of 10 and 12 years. On average, tic severity declines during adolescence. By early adulthood, roughly three-quarters of children with TS will have greatly diminished tic symptoms and over one-third will be tic free. Comorbid conditions, such as OCD and other anxiety and depressive disorders, are more common during the adolescence and early adulthood of individuals with TS than in the general population. Although tics are the sine qua non of TS, they are often not the most enduring or impairing symptoms in children with TS. Measures used to enhance self-esteem, such as encouraging strong friendships and the exploration of interests, are crucial to ensuring positive adulthood outcome in TS.

  15. Kissing nevus of the penis.

    PubMed

    Yun, Sook Jung; Wi, Hyun Seung; Lee, Jee-Bum; Kim, Seong-Jin; Won, Young Ho; Lee, Seung-Chul

    2011-11-01

    Kissing or divided nevi are similar in shape to congenital melanocytic nevi located on an adjacent part of the body that are separated during embryogenesis. Kissing nevi of the upper and lower eyelids have been reported infrequently since the first report in 1908. Kissing nevi of the penis are very rare, with only 12 cases being reported until now, and this is the first case report in the Korean dermatological literature. A previously healthy 27-year-old man presented with asymptomatic black colored patches, which were detected 10 years ago, on the glans penis and the prepuce with growth in size. We report here a case of kissing nevus of the penis, which showed an obvious mirror-image symmetry relative to the coronal sulcus.

  16. [Clinical analysis of Sweet syndrome with myelodysplasia syndrome].

    PubMed

    Wang, Y N; Zhuang, J L; Zhao, W L; Fang, K; Liu, Y H; Jin, H Z; Li, L

    2016-06-14

    To study the clinical, histopathological and therapeutic features of Sweet syndrome with myelodysplastic syndrome (MDS). The clinical data of 3 patients with Sweet syndrome and MDS diagnosed at Peking Union Medical College Hospital between October 1988 and November 2015 were reviewed. The laboratory test results, histopathological findings, and therapeutic regimens of these patients were analyzed retrospectively. The three cases were 29, 49 and 49 years old, respectively, including 2 females and 1 male. Two patients presented with Sweet syndrome before the onset of MDS, the other one patient developed Sweet syndrome and MDS simultaneously. The rash of all of these patients manifested as red painful papules in face, trunk and limbs, as well as edematous plaques and nodules. Histopathological examination of skin confirmed the diagnosis of Sweet syndrome. Complete blood count showed cytopenia of at least one lineage. Bone marrow cytology showed dysplasia of hematopoietic cells with abnormal high proportion of myeloblasts. Bone marrow pathology results were normal in 2 patients, while hypoplasia of hematopoietic tissue with excess adipose tissue was found in 1 patient. All the patients were treated with corticosteroid or immunosuppressants and skin lesions alleviated. But relapse was common in process of corticosteroid reduction. Sweet syndrome may be a precursor of MDS. The clinical manifestations, histopathological and hematological findings of these rare cases are characteristic. Corticosteroid indicates short-term response. The patients who had recurrent skin lesions should be further examined to exclude MDS.

  17. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  18. A Case of "Inflammatory Linear Verrucous Epidermal Nevus" (ILVEN) Treated with CO2 Laser Ablation.

    PubMed

    Gianfaldoni, Serena; Tchernev, Georgi; Gianfaldoni, Roberto; Wollina, Uwe; Lotti, Torello

    2017-07-25

    The "inflammatory linear verrucous epidermal nevus" is a rare disease, consisting of hyperplasia of the normal components of the epidermis. Its clinical features include erythematous and hyperkeratosic, warty, sometimes psoriasiform or lichenoid patches with a typical linear arrangement. At present, there are no effective medical therapies available. Currently, the best therapeutic results are obtained with surgical excision or the latest laser therapy. The Authors present a 9-years old girl with an inflammatory linear verrucous epidermal nevus on her neck, successfully treated with CO2 Laser ablation.

  19. Mucinous eccrine nevus: a case report and literature review.

    PubMed

    Chen, Jia; Sun, Jian-fang; Zeng, Xue-si; Liu, Yi; Jiang, Yi-qun; Li, A-mei; Song, Ya-li

    2009-06-01

    Mucinous eccrine nevus (MEN) is a rare variant of eccrine nevus, characterized by a proliferation of normal eccrine structure surrounded by mucin deposits. We report herein the eighth case of mucinous eccrine nevus in the literature, with abundant mucin deposits not only in the stroma surrounding the eccrine glands but also in the superficial dermis. The literature is reviewed.

  20. SF3B1 and BAP1 mutations in blue nevus-like melanoma.

    PubMed

    Griewank, Klaus G; Müller, Hansgeorg; Jackett, Louise A; Emberger, Michael; Möller, Inga; van de Nes, Johannes Ap; Zimmer, Lisa; Livingstone, Elisabeth; Wiesner, Thomas; Scholz, Simone L; Cosgarea, Ioana; Sucker, Antje; Schimming, Tobias; Hillen, Uwe; Schilling, Bastian; Paschen, Annette; Reis, Henning; Mentzel, Thomas; Kutzner, Heinz; Rütten, Arno; Murali, Rajmohan; Scolyer, Richard A; Schadendorf, Dirk

    2017-07-01

    Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations). In this study, we analyzed a large cohort (n=301) of various morphologic variants of blue nevi and related tumors including tumors diagnosed as atypical blue nevi (n=21), and blue nevus-like melanoma (n=12), screening for all gene mutations known to occur in uveal melanoma. Similar to published reports, we found the majority of blue nevi harbored activating mutations in GNAQ (53%) or GNA11 (15%). In addition, rare CYSLTR2 (1%) and PLCB4 (1%) mutations were identified. EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively). In sequencing data from a larger cohort of cutaneous melanomas, this genetic profile was also identified in tumors not originally diagnosed as blue nevus-like melanoma. Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. Future studies will need to further elucidate the prognostic implications and appropriate clinical management for patients with tumors harboring these mutation profiles.

  1. Halo nevus of the choroid in 150 patients: the 2010 Henry van Dyke Lecture.

    PubMed

    Shields, Carol L; Maktabi, Azza My; Jahnle, Erica; Mashayekhi, Arman; Lally, Sara E; Shields, Jerry A

    2010-07-01

    To evaluate choroidal halo nevus. We performed a retrospective medical record review on all patients with a clinical diagnosis of choroidal halo nevus treated at the Ocular Oncology Service at Wills Eye Institute from April 1, 1974, through June 30, 2008. Their clinical characteristics and natural history were studied. The choroidal halo nevus showed 2 components, including a distinct central pigmented region surrounded by a yellow halo. Of the 150 patients, 107 (71.3%) were women and 43 (28.7%) were men; and 149 (99.3%) were white, with a median age at presentation of 54 years. Autoimmune disorders were found in 4 patients (2.7%), a rate similar to the prevalence in the US population (2.7% vs 3.1%, P = .74). Preexistent cutaneous melanoma was found in 5 patients (3.3%), which was significantly more prevalent than the rate for the US population (3.3% vs 0.3%, P < .001). The halo was peripheral in 139 patients (92.7%) and slightly internal in 11 (7.3%). Two patients (1.3%) had multifocal halo nevi. The nevus location was superior in 31 patients (20.7%), temporal in 43 (28.7%), inferior in 29 (19.3%), nasal in 27 (18.0%), and macular in 20 (13.3%). Related features included drusen in 85 patients (56.7%), subretinal fluid in 21 (14.0%), orange pigment in 13 (8.7%), and retinal pigment epithelial atrophy in 15 (10.0%). There were no intraocular inflammatory findings. Of the 110 patients with nevi with follow-up, growth into melanoma occurred in 4 patients (3.6%) at a median interval of 41 months. Halo nevus is a variant of choroidal nevus that has a brown center and yellow halo. No relationship was found with autoimmune disorders, but a relationship with previous cutaneous melanoma is possible.

  2. Genetics Home Reference: Gorlin syndrome

    MedlinePlus

    ... Management Resources (2 links) GeneReview: Nevoid Basal Cell Carcinoma Syndrome MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  3. Hughes Syndrome: the antiphospholipid syndrome--a clinical overview.

    PubMed

    Hughes, Graham

    2007-02-01

    In 1983, a detailed clinical description of a new syndrome was published. This prothrombotic syndrome was initially called the anticardiolipin syndrome and subsequently the antiphospholipid syndrome (APS), or Hughes Syndrome. Almost uniquely, it results in arterial as well as venous thrombosis and is marked by the presence of circulating antiphospholipid antibodies. Clinical features are protean, ranging from peripheral deep vein thrombosis (DVT) to involvement of internal organs such as the liver, kidneys, and adrenals. Likewise, arterial thrombosis can result in life-threatening infarction of organs such as the heart. The nervous system is frequently affected, with migraine, memory loss, balance disorders, stroke, and atypical multiple sclerosis being prominent. Other features include recurrent miscarriage, thrombocytopenia, and livedo reticularis. More recent observations have included ischemic bone fractures, renal and celiac artery stenosis, and a possible tendency toward accelerated atherosclerosis. The condition is seen in patients with lupus, but, significantly, occurs without associated lupus ("primary" APS)-indeed, increasing clinical recognition of Hughes Syndrome suggests that this condition will overtake lupus in prevalence. Treatment at present is by anticoagulation. The mechanisms for thrombosis are being worked out; it has been suggested that in some situations (e.g., pregnancy loss), an inflammatory component as well as thrombosis may play a part.

  4. Nevus

    MedlinePlus

    ... Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Academy Publications EyeNet Ophthalmology Information for: International Ophthalmologists Media Medical Students Patients and Public Technicians and Nurses ...

  5. Abdominal compartment syndrome: a concise clinical review.

    PubMed

    An, Gary; West, Michael A

    2008-04-01

    There has been an increased awareness of the presence and clinical importance of abdominal compartment syndrome. It is now appreciated that elevations of abdominal pressure occur in a wide variety of critically ill patients. Full-blown abdominal compartment syndrome is a clinical syndrome characterized by progressive intra-abdominal organ dysfunction resulting from elevated intra-abdominal pressure. This review provides a current, clinically focused approach to the diagnosis and management of abdominal compartment syndrome, with a particular emphasis on intensive care. Source data were obtained from a PubMed search of the medical literature, with an emphasis on the time period after 2000. PubMed "related articles" search strategies were likewise employed frequently. Additional information was derived from the Web site of the World Society of the Abdominal Compartment Syndrome (http://www.wsacs.org). The detrimental impact of elevated intra-abdominal pressure, progressing to abdominal compartment syndrome, is recognized in both surgical and medical intensive care units. The recent international abdominal compartment syndrome consensus conference has helped to define, characterize, and raise awareness of abdominal compartment syndrome. Because of the frequency of this condition, routine measurement of intra-abdominal pressure should be performed in high-risk patients in the intensive care unit. Evidence-based interventions can be used to minimize the risk of developing elevated intra-abdominal pressure and to aggressively treat intra-abdominal hypertension when identified. Surgical decompression remains the gold standard for rapid, definitive treatment of fully developed abdominal compartment syndrome, but nonsurgical measures can often effectively affect lesser degrees of intra-abdominal hypertension and abdominal compartment syndrome.

  6. A retrospective analysis of the clinical efficacies of Q-switched Alexandrite and Q-switched Nd:YAG lasers in the treatment of nevus of Ota in Korean patients.

    PubMed

    Choi, Jae Eun; Lee, Joo Bong; Park, Ki Beom; Kim, Bang Soon; Yeo, Un-Cheol; Huh, Chang Hun; Kim, Jie Hoon; Kye, Young Chul

    2015-06-01

    While the Q-switched Alexandrite laser (QSAL) and the Q-switched neodymium: yttrium-aluminum-garnet (QSNY) laser have been widely used in treating nevus of Ota, few studies compared them. To compare the efficacies of the QSAL and the QSNY laser in the treatment of nevus of Ota in Korean patients. A retrospective multicenter study was conducted in 76 patients with nevus of Ota. Thirty-one patients were treated with a QSAL (5.5-8.0 J/cm(2), 4-mm spot size) and 45 patients were treated with QSNY laser (6.0-12.0 J/cm(2), 2-mm spot size). Treatment outcomes were categorized into five grades and the results were compared with the relevant variables taken into account using multivariate logistic regression analysis. QSAL treatment was more likely to achieve a better response compared with that with QSNY laser treatment. The odds ratio of achieving an excellent response, compared with the odds ratio of having a poor response, was 12.213-times more likely when a QSAL was used than when a QSNY laser was used (p = 0.026). The QSAL tends to be more efficient than the QSNY laser in the treatment of nevus of Ota in Korean patients. Further controlled, prospective comparison studies are needed.

  7. Blue nevus of the tarsus as the predominant component of a combined nevus of the eyelid.

    PubMed

    Jakobiec, Frederick A; Stacy, Rebecca C; Thakker, Manoj M

    2011-01-01

    A 40-year-old man presented with a pigmented lesion of the palpebral conjunctiva and margin of the right lower eyelid. Because of suspicion of melanoma, the lesion was resected. Microscopic examination revealed 2 distinct components: a dominant blue nevus in the tarsus consisting of bland pigmented spindle and epithelioid cells that dissected among the orbicularis muscle fibers and meibomian glands, and a small subepithelial nevomelanocytic component with no overlying junctional activity. The diagnosis of a combined nevus was supported by minimal Ki-67 nuclear immunoreactivity. While the current lesion was proved to be an atypical nevus, all palpebral pigmented lesions should be routinely excised because many are melanomas.

  8. Malignant Melanoma in Association With a Thymic Nevus in a Patient With a Giant Congenital Nevus.

    PubMed

    Shvartser-Beryozkin, Yulia; Yakobson, Alexander; Benharroch, Daniel; Saute, Milton; Feinmesser, Meora

    2017-07-01

    Nevi and melanocytic proliferations are known to appear in multiple extracutaneous sites, including lymph nodes and meninges. We report a case of an anterior mediastinal mass in a patient with a giant congenital nevus and neurofibromatosis type I. Histologically, the tumor was found to be a malignant melanoma in the thymus arising in association with a nevus that involved most of the thymic tissue. There was no sign of cutaneous melanoma on skin examination. We suggest that the tumor originated from the benign nevus in the thymus, a rare extracutaneous location for nevi and malignant melanoma.

  9. Kissing nevus of the penis. Report of two cases and review of the literature.

    PubMed

    Wang, Songting; Zhou, Mingshu; Qiao, Jianjun

    2014-01-01

    Kissing nevus is a curious type of nevus that was first described on the eyelids and rarely described on the penis. We report two cases of kissing nevus of the penis and review previously reported cases. The lesions of the kissing nevus of the penis showed characteristic mirror-image symmetry relative to the coronal sulcus. On histopathology, the lesion showed a compound nevus.

  10. Comparison of clinical efficacy and complications between Q-switched alexandrite laser and Q-switched Nd:YAG laser on nevus of Ota: a systematic review and meta-analysis.

    PubMed

    Yu, Panxi; Yu, Nanze; Diao, Wenqi; Yang, Xiaonan; Feng, Yongqiang; Qi, Zuoliang

    2016-04-01

    Although the application of Q-switched lasers on nevus of Ota (OTA) is well demonstrated, debates about clinical option between Q-switched alexandrite laser (QSA) and Q-switched Nd:YAG laser (QSNY) still remain. This systematic review and meta-analysis estimated the overall successful rate of OTA pigment clearance and complication rate of QSA and QSNY and evaluated which laser could produce a better result. English articles evaluating pigment clearance and complications of QSA and/or QSNY on OTA were screened through predetermined inclusion and exclusion criteria and analyzed. The successful rate of pigment clearance and complication rate of QSA and QSNY were respectively calculated using a random-effects or fixed-effects model, depending on the heterogeneity of the included studies. The successful rate and complication rate of QSA and QSNY were compared statistically. Of the 140 articles searched, 13 met inclusion criteria. Totally, 2153 OTA patients treated by QSA and 316 patients treated by QSNY were analyzed. In QSA and QSNY groups, respectively, the successful rate of OTA pigment clearance was 48.3% (95% confidence interval (CI) 19.9-76.8%) and 41% (95% CI 9.7-72.2%), while the complication rate was 8.0% (95% CI 3.9-12.2%) and 13.4% (95% CI 7.7-19.0%). When compared with QSNY, QSA had a significantly higher successful rate (P = 0.017), and a lower complication rate (P = 0.000). According to this review, QSA may surpass QSNY in treatment for OTA as it had a superior successful rate of pigment clearance and a lower complication rate than QSNY did.

  11. Congenital melanocytic nevus: two clinicopathological forms.

    PubMed

    Magaña, Mario; Sánchez-Romero, Elizabeth; Magaña, Pablo; Beck-Magaña, Andrés; Magaña-Lozano, Mario

    2015-01-01

    Congenital melanocytic nevus (CMN) is a hamartomatous disease for which many attempts at classification have been proposed. This disease is relevant not only because of its functional and esthetic implications but also because it is a well-documented precursor to malignant melanoma. We performed a clinical and pathological prospective study of 200 cases of CMN and were able to identify 2 different forms of CMN, each one with biological, clinical, and histopathological features and criteria that are consistent and repeatable. We propose to name them types I and II. Type I CMN is the most common, usually, if not always, a single lesion, it consists of a plaque that involves only 1 anatomic region and does not go beyond it; type I CNM grows in proportion to the growth of the child, melanoma rarely develops from it, and when it does it usually arises at the dermoepidermal junction. Its histopathology shows cords, strands, nests, and single units of melanocytes spreading between collagen bundles only in the dermis and frequently the epidermis too, but without trespassing to the hypodermis, that is, it is superficial. Type II CMN is always made up of many lesions, one of them being very large and surrounded by many lesions; histopathologically, it involves not only the skin but also deeper structures, sometimes bone and central nervous system; therefore, it is deep; when melanoma develops, it does in the dermal component and usually from the largest plaque. This type of CMN is the one that develops neurocutaneous melanocytosis. This system is not only easy and logical but it also has biologic advantages and the clinical-pathological correlation and criteria are repeatable by clinicians and pathologists.

  12. Balloon cell change in cellular blue nevus.

    PubMed

    Perez, M T; Suster, S

    1999-04-01

    Balloon cells are altered melanocytes with clear vacuolated cytoplasm caused by a defect in the process of melanogenesis. Although rare, balloon cell change has been observed in a variety of melanocytic proliferations, particularly intradermal melanocytic nevi and melanoma. When present, such features may lead to difficulties in diagnosis, particularly with other clear cell neoplasms. We report an unusual case of the development of balloon cell change in a cellular blue nevus, a phenomenon that has not been extensively addressed in the literature. The importance of recognizing this change in cellular blue nevus to avoid misinterpreting the lesion as malignant is discussed.

  13. Molecular and Clinical Aspects of Angelman Syndrome.

    PubMed

    Dagli, A; Buiting, K; Williams, C A

    2012-04-01

    The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2-q13 genomic region identifies 75-80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5-10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity.

  14. Molecular and Clinical Aspects of Angelman Syndrome

    PubMed Central

    Dagli, A.; Buiting, K.; Williams, C.A.

    2012-01-01

    The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2–q13 genomic region identifies 75–80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5–10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity. PMID:22670133

  15. Skin regeneration for giant pigmented nevus using autologous cultured dermal substitutes and epidermis separated from nevus skin.

    PubMed

    Kobayashi, Shinji; Kubo, Kentarou; Matsui, Hiromichi; Torikai, Katuyuki; Kuroyanagi, Yoshimitsu

    2006-02-01

    We have developed a modality of treatment of giant pigmented nevus of intradermal type. This method involves application of autologous cultured dermal substitute (CDS), followed by grafting of epidermis separated from the patient's nevus skin. To prepare the wound bed, autologous CDS was applied onto a full-thickness skin defect after complete excision of the nevus. The excised nevus skin was preserved for 1 week, after which the epidermis was separated from the nevus skin by enzymatic treatment with dispase. The epidermis thus obtained was grafted onto the resulting wound bed. This procedure was used to treat a giant pigmented nevus on a 7-year-old patient. The grafted region was soft with good tone 1 year after epidermis grafting. These results indicate that the present method can achieve complete excision of giant nevus, with esthetically acceptable results, although it requires careful monitoring for a long time.

  16. Reye's syndrome: a clinical review.

    PubMed Central

    Crocker, J F; Bagnell, P C

    1981-01-01

    Reye's syndrome is a virus-associated biphasic disease that causes acute encephalopathy in infants and children. Epidemiologic and experimental data support the hypothesis that it is a multifactorial disease of modern civilization. Just as young patients seem to be recovering uneventfully from the first phase of the illness, usually a nonspecific viral-like illness such as a respiratory tract infection or gastroenteritis, the second phase, encephalopathy, starts unexpectedly, with vomiting and sensorial changes. Identifying the syndrome early ;in the second phase and referring the child to a specialized centre with the experience, staff and facilities to manage this phase has improved the numbers and neurologic condition of survivors, though the overall mortality is still about 20%. Therapy is primarily directed at facilitating adequate cerebral perfusion pressure. PMID:6783291

  17. The eastern Australian childhood nevus study: prevalence of atypical nevi, congenital nevus-like nevi, and other pigmented lesions.

    PubMed

    Rivers, J K; MacLennan, R; Kelly, J W; Lewis, A E; Tate, B J; Harrison, S; McCarthy, W H

    1995-06-01

    Various melanocytic lesions are frequently observed. An understanding of phenotypic factors and environmental stimuli that are associated with these lesions may help explain their pathogenesis. This study was undertaken to determine the prevalence of atypical nevi, blue nevi, cafe-au-lait macules, congenital nevus-like nevi, halo nevi, nevi spili, nevi 5 mm or more in diameter, and skin-colored melanocytic nevi in a population of schoolchildren and to explore risk factors including solar radiation in the development of these melanocytic lesions. A cross-sectional study was performed by the same medical investigators to examine schoolchildren in three Australian cities that span a wide range of latitudes. Data from 1123 white Australian schoolchildren, 6 to 15 years of age, were analyzed. Acquired melanocytic nevi (atypical nevi, nevi > or = 5 mm in diameter, and skin-colored nevi) were more likely to develop in older fair-skinned subjects who had freckles and lived closest to the equator. Café-au-lait macules and congenital nevus-like nevi were observed in 36.3% and 4.4% of the total population, respectively. Prevalence for both these types of melanocytic lesions increased significantly with decreasing latitude. Halo nevi were present in 5.3% of the subjects and were usually solitary. These lesions were related to the presence of atypical nevi primarily by virtue of their size rather than of other features of clinical atypia. Like melanocytic nevi in general, large and atypical nevi are strongly influenced by geographic location and, by implication, degree of solar radiation. The same can be said for congenital nevus-like nevi, which suggests that many so-called congenital nevi are in fact acquired early in life.

  18. A Clinical Perspective of the Takotsubo Syndrome.

    PubMed

    Sharkey, Scott W

    2016-10-01

    This article provides a contemporary review of the clinical features of the takotsubo syndrome. The author discusses hallmark elements that distinguish this novel acute cardiac condition from the more common acute coronary syndrome. This review includes relevant clinical detail surrounding findings on ECG, biochemical testing, and cardiac imaging and a discussion of complications, including acute decompensated heart failure, arrhythmias, ventricular thrombi, and left ventricular outflow obstruction. The review concludes with discussion of proper treatment, long-term survival, and recurrence. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Blue rubber bleb nevus: an uncommon cause of intestinal intussusception.

    PubMed

    Esposito, C; Giurin, I; Farina, A; Ascione, G; Miele, E; Staiano, A; Di Benedetto, V; Settimi, A

    2012-07-01

    The blue rubber bleb nevus syndrome or Bean syndrome is a rare disorder characterized by cutaneous and gastrointestinal vascular malformations. A 5-year-old girl with Bean syndrome hospitalized in a pediatric unit came under our observation with abdominal pain and vomiting. An X-ray of the abdomen showed an intestinal occlusion and an ultrasonography showed a suspected intestinal invagination. She underwent emergency laparoscopic surgery using three trocars. Laparoscopy revealed a huge ascitis and multiple vascular lesions located on the loops and on the parietal peritoneum, and we identified also an ileo-ileal invagination. We performed a laparoscopic disinvagination that showed one huge vascular lesion producing the invagination and causing a stenosis of intestinal lumen. We performed an intestinal resection after exteriorizing the loops through the umbilicus as well as a termino-terminal ileal anastomosis. Our case shows that an intestinal invagination due to Bean syndrome is extremely rare in pediatric patients but possible. In the emergency, laparoscopy seems to be a safe and effective procedure to confirm the diagnosis and to perform the disinvagination mini-invasivally. In addition, laparoscopy permits to have a clear picture of other intra-abdominal lesions linked to Bean syndrome.

  20. Goodpasture's syndrome: a clinical update.

    PubMed

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Gallo, Andrea; Fusconi, Massimo; Pagliuca, Giulio; Martellucci, Salvatore; Turchetta, Rosaria; Longo, Lucia; De Vincentiis, Marco

    2015-03-01

    Goodpasture's syndrome (GS) is a rare and organ-specific autoimmune disease that is mediated by anti-glomerular basement membrane (anti-GBM) antibodies and has pathology characterized by crescentic glomerulonephritis with linear immunofluorescent staining for IgG on the GBM. It typically presents as acute renal failure caused by a rapidly progressive glomerulonephritis, accompanied by pulmonary hemorrhage that may be life-threatening. It was first described as a distinctive syndrome by Pasture in 1919. Autoimmune Inner Ear Disease (AIED) may be associated. The etiology of GS is unknown. Researchers hypothesized a genetic predisposition HLA-associated. Complex immunological mechanisms are in the pathogenesis. The disease is caused by autoantibodies against the NC1 domain of the alpha 3 chain of type IV collagen. The limited presence of this molecule in the body explains the interest confined to specific target organs, such as the lung and kidney. It occurs when the immune system attacks the walls of the lungs and the tiny filtering units in the kidneys. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

    PubMed

    Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-03-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  2. Metastasizing adenocarcinoma and multiple neoplastic proliferations arising in a nevus sebaceus.

    PubMed

    Kantrow, Sara M; Ivan, Doina; Williams, Michelle D; Prieto, Victor G; Lazar, Alexander J

    2007-10-01

    Nevus sebaceus of Jadassohn is a hamartoma of multiple skin structures. Many neoplasms have been reported to arise in association with nevus sebaceus, most commonly trichoblastoma/basal cell carcinoma and syringocystadenoma papilliferum. We report a case of a 66-year-old woman with an adenocarcinoma as well as multiple neoplastic proliferations arising in a long standing nevus sebaceus on the scalp, with subsequent occipital neck metastatic disease. On histologic evaluation, the epidermis showed changes reminiscent of tumor of the follicular infundibulum as well as basaloid proliferations resembling superficial trichoblastoma. A focus suggestive of syringofibroadenoma was also present. A small dermal collection of basaloid and more mature sebocytes was consistent with a sebaceoma/sebaceous epithelioma. Most of the lesion was composed of an adenocarcinoma with areas showing ductal differentiation with decapitation secretion, well-formed papillae and focal cribriform structures. Other portions demonstrated a high-grade neoplasm with prominent nuclear atypia and a solid pattern of growth resembling high-grade breast carcinoma. Anti-epithelial membrane antigen strongly labeled tumor cells and highlighted ductal structures. Less than 1% of cells expressed progesterone or estrogen receptors. Her2/neu reactivity was focally present, showing 1+ membranous reactivity in 10% of cells. Anti-p63 labeled basaloid cells surrounding the tumor lobules. A breast primary was ruled out by clinical and radiologic examination. This report illustrates an extraordinary case of adnexal neoplasia displaying various lines of differentiation arising in association with nevus sebaceus.

  3. Spitz nevus and atypical spitzoid neoplasm.

    PubMed

    Miteva, Maria; Lazova, Rossitza

    2010-09-01

    Spitz nevus (SN) and Spitzoid malignant melanoma (SMM) represent benign and malignant counterparts at both ends of the spectrum of Spitzoid lesions. Atypical Spitzoid neoplasm (ASN) is a poorly defined and characterized category of melanocytic tumors with histologic features of both benign Spitz nevi and malignant melanomas. The group of ASN represents a mixture of Spitz nevi with atypical features and Spitzoid melanomas. However, at the current moment in time, histopathologists are not capable of differentiating between the 2 in some cases and are forced to place them in this ambiguous category, where the behavior of these lesions cannot be predicted with certainty. Because this group encompasses both benign and malignant lesions, and perhaps also a separate category of melanocytic tumors that behave better than conventional melanomas, some of these neoplasms can metastasize and kill patients, whereas others have no metastatic potential, and yet others might only metastasize to regional lymph nodes. Although diagnostic accuracy has improved over the years, many of these lesions remain controversial, and there is still poor interobserver agreement in classifying problematic Spitzoid lesions among experienced dermatopathologists. The objective of this review article is to summarize the most relevant information about SN and ASNs. At this time histologic examination remains the golden standard for diagnosing these melanocytic neoplasms. We therefore concentrate on the histopathologic, clinical, and dermoscopic aspects of these lesions. We also review the most recent advances in immunohistochemical and molecular diagnostics as well as discuss the controversies and dilemma regarding whether to consider sentinel lymph node biopsy for diagnostically ambiguous melanocytic neoplasms. Copyright © 2010 Elsevier Inc. All rights reserved.

  4. Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations.

    PubMed

    Castellano, José M; Silvay, George; Castillo, Javier G

    2014-09-01

    Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective. © The Author(s) 2013.

  5. Clinical manifestations and stages of Rett syndrome.

    PubMed

    Hagberg, Bengt

    2002-01-01

    The presentation and clinical diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the classical form, variability in phenotype between different atypical Rett forms is given. Obligatory, supportive, and differential diagnostic criteria are summarized. Long-term follow-up findings in ageing Rett women are addressed.

  6. Clinical characteristics of Crouzon syndrome.

    PubMed

    Balyen, L; Deniz Balyen, L S; Pasa, S

    2017-01-01

    Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3-6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation.

  7. Clinical characteristics of Crouzon syndrome

    PubMed Central

    Balyen, L.; Deniz Balyen, L. S.; Pasa, S.

    2017-01-01

    Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3–6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation. PMID:28757702

  8. Spitz nevus arising in the eyelid of a teenager.

    PubMed

    Shields, Patrick W; Jakobiec, Frederick A; Stagner, Anna M; Yoon, Michael K

    2016-01-01

    A 16-year-old boy developed over a 2-month interval a lightly pigmented left upper eyelid lesion measuring 1.5 mm in greatest diameter that, when excised, microscopically was hypercellular and composed almost exclusively of nonpigmented epithelioid cells that created florid, large intraepidermal junctional nests and sheets and nests of subepidermal cells. The diagnosis was a Spitz nevus. HMB-45, MART-1, and microphthalmia-associated transcription factor were all positive and established the melanocytic nature of the benign tumor. The Ki-67 proliferation index (5%) and 2 mitoses/mm(2) were both low; p16 protein was immunohistochemically identified in the nevoid cells. We review the clinical, histopathologic, and other immunohistochemical features of this entity and provide a brief differential diagnosis (including separation from a Spitzoid melanoma). This is only the third eyelid Spitz nevus reported in the literature and is the most fully characterized immunohistochemically. At their present stage of development, contemporary immunohistochemical biomarkers, while providing supplemental information, nonetheless remain less than definitive in terms of reliably distinguishing benign from malignant Spitz lesions.

  9. Meningeal melanocytoma of Meckel's cave associated with ipsilateral Ota's nevus.

    PubMed

    Botticelli, A R; Villani, M; Angiari, P; Peserico, L

    1983-06-15

    A case of meningeal melanocytoma of the left Meckel's cave associated with ipsilateral Ota's nevus in a 43-year-old woman, was studied by light and electron microscopy. The cells of the tumor were characterized by the presence of dendritic cytoplasmic processes, melanosomes and premelanosomes; hence, they were deemed as neoplastic melanocytes. Moreover, the tumor was lacking in histologic and ultrastructural features of pigmented meningioma, melanotic Schwannoma and primary meningeal melanoma. The prolonged clinical course was different from primary and metastatic malignant melanomas of the meninges. The best treatment appears to be radical excision, when possible; otherwise, the local or partial enucleation followed by radiation therapy has been found to be the best curative to date. On the whole, meningeal melanocytoma cannot be considered as entirely benign, given its morphologic patterns that resemble those of uveal melanoma, and its potential for recurrence. The association of this tumor with Ota's nevus is referred to as having a common origin from an arrested migration of melanoblasts at different stages.

  10. Clinical manifestations of trisomy 4p syndrome.

    PubMed

    Patel, S V; Dagnew, H; Parekh, A J; Koenig, E; Conte, R A; Macera, M J; Verma, R S

    1995-06-01

    Trisomy 4p syndrome is a distinct clinical entity which was noted almost a quarter century ago by Wilson et al. [71] and later was delineated by Gonzalez and colleagues [29]. The variation in the length of duplicated segment usually associated with monosomy of other genetic material which has resulted in confusion and as a result a so-called 4p syndrome could not be recognized without cytogenetic analysis. We wish to draw the attention of clinicians to this subject by presenting the description of over 75 cases including one from our clinic and stress the point that molecular approaches are imperative to characterize this anomaly. After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel. Arachnodactyly and camptodactyly. Molecular characterization of 4p is imperative. We have also included an extensive bibliography for clinicians who may find it useful as a single reference source for evaluating their future cases. The 4p-syndrome is a distinct entity but without cytogenetic evaluation, the syndrome can not be recognized.

  11. Hot Tub Folliculitis: A Clinical Syndrome

    PubMed Central

    Zacherle, Barry J.; Silver, Diane S.

    1982-01-01

    With the increasing use of hot tubs, patients are being seen with a distinct clinical syndrome that appears several hours or days after hot tub exposure. It consists of a maculovesicular, often pruritic rash, and commonly occurring associated symptoms including fever, upper respiratory tract complaints, axillary adenopathy and breast tenderness. Cultures in the cases described here grew out Pseudomonas aeruginosa, giving a diagnosis of Pseudomonas folliculitis. The illness clears spontaneously without any treatment. Proper attention to hot tub chlorination and use are probably important in preventing this problem, and awareness of the syndrome by physicians may prevent unnecessary and costly diagnostic studies and treatment programs. PMID:7147933

  12. Histoplasmosis: clinical syndromes and management.

    PubMed

    Stinson, J M; Talley, P A; Thomas, F E

    1979-06-01

    The fungus Histoplasma capsulatum produces a spectrum of disease forms ranging from a benign self-limited illness to progressive disseminated disease with a 50 percent mortality rate. The drug of choice, amphotericin B, must be given intravenously over a prolonged course and carries a high incidence of toxicity. Thus, optimal managment of serious forms of histoplasmosis requires considerable clinical judgment.

  13. Becker's nevus with ipsilateral breast hypoplasia: improvement with spironolactone.

    PubMed

    Hoon Jung, Jae; Chan Kim, You; Joon Park, Hyang; Woo Cinn, Yong

    2003-02-01

    Ipsilateral breast hypoplasia is a rare abnormality in Becker's nevus. The pathogenesis of the breast hypoplasia is not understood, but an increased level of androgenic receptor in the affected area may play a role. We report a case of Becker's nevus with ipsilateral breast hypoplasia. Spironolactone, an anti-androgenic agent, was tried for treatment of the hypoplasia, and, one month later, breast enlargement was seen in only the hypoplastic breast with Becker's nevus. This finding supports the theory that breast hypoplasia in Becker's nevus is related to an increase in androgenic receptor.

  14. Histoplasmosis: Clinical Syndromes and Management

    PubMed Central

    Stinson, Joseph M.; Talley, Paul A.; Thomas, Frank E.

    1979-01-01

    The fungus Histoplasma capsulatum produces a spectrum of disease forms ranging from a benign self-limited illness to progressive disseminated disease with a 50 percent mortality rate. The drug of choice, amphotericin B, must be given intravenously over a prolonged course and carries a high incidence of toxicity. Thus, optimal managment of serious forms of histoplasmosis requires considerable clinical judgment. ImagesFigure 1Figure 2Figure 3 PMID:480392

  15. PFAPA syndrome: new clinical aspects disclosed

    PubMed Central

    Tasher, D; Somekh, E; Dalal, I

    2006-01-01

    Background The recently described PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis) syndrome is characterised by periodic fever, aphthous stomatitis, pharyngitis and adenitis. However, there are currently relatively few data on the natural history of this syndrome. Objective To describe the presentation, clinical course, doctors' awareness, therapeutic response and long‐term follow‐up of children with PFAPA syndrome. Methods Children with PFAPA syndrome referred over a 5‐year period (from January 1999 to January 2004) were enrolled in the study. Data were gathered from medical records, parents' interviews, physical examination and telephone calls. Results 54 patients with PFAPA syndrome were evaluated. Our patients had a higher rate of abdominal pain (65%) and a lower rate of aphthous stomatitis (39%) than those in previous reports. Four different patterns of disease evolution were identified, including the relatively common (n = 14, 26%) and newly described course of alternating remissions and relapses. The remissions lasted 8.5 months on average (range 4–36 months). Diagnosis was established by primary paediatricians in 30 of 54 (56%) patients. However, a substantial delay in diagnosis was apparent (mean 15 months). Episodes were curtailed by a much lower dose of prednisone or equivalent corticosteroid (mean 0.6 mg/kg/day, range 0.15–1.5 mg/kg/day) than reported previously. Tonsillectomy was successful in the prevention of recurrence of further episodes in all six patients who underwent the procedure. Conclusions We describe several new characteristics of PFAPA syndrome in children, contributing to our knowledge of this relatively unrecognised but troublesome syndrome. Early diagnosis and appropriate treatment can markedly improve the quality of life of both patients and families. PMID:16595648

  16. PFAPA syndrome: new clinical aspects disclosed.

    PubMed

    Tasher, D; Somekh, E; Dalal, I

    2006-12-01

    The recently described PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis) syndrome is characterised by periodic fever, aphthous stomatitis, pharyngitis and adenitis. However, there are currently relatively few data on the natural history of this syndrome. To describe the presentation, clinical course, doctors' awareness, therapeutic response and long-term follow-up of children with PFAPA syndrome. Children with PFAPA syndrome referred over a 5-year period (from January 1999 to January 2004) were enrolled in the study. Data were gathered from medical records, parents' interviews, physical examination and telephone calls. 54 patients with PFAPA syndrome were evaluated. Our patients had a higher rate of abdominal pain (65%) and a lower rate of aphthous stomatitis (39%) than those in previous reports. Four different patterns of disease evolution were identified, including the relatively common (n = 14, 26%) and newly described course of alternating remissions and relapses. The remissions lasted 8.5 months on average (range 4-36 months). Diagnosis was established by primary paediatricians in 30 of 54 (56%) patients. However, a substantial delay in diagnosis was apparent (mean 15 months). Episodes were curtailed by a much lower dose of prednisone or equivalent corticosteroid (mean 0.6 mg/kg/day, range 0.15-1.5 mg/kg/day) than reported previously. Tonsillectomy was successful in the prevention of recurrence of further episodes in all six patients who underwent the procedure. We describe several new characteristics of PFAPA syndrome in children, contributing to our knowledge of this relatively unrecognised but troublesome syndrome. Early diagnosis and appropriate treatment can markedly improve the quality of life of both patients and families.

  17. Drug hypersensitivity: pharmacogenetics and clinical syndromes.

    PubMed

    Phillips, Elizabeth J; Chung, Wen-Hung; Mockenhaupt, Maja; Roujeau, Jean-Claude; Mallal, Simon A

    2011-03-01

    Severe cutaneous adverse reactions include syndromes such as drug reaction with eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes, including abacavir-associated hypersensitivity reaction, allopurinol-associated DRESS/DIHS and SJS/TEN, and SJS/TEN associated with aromatic amine anticonvulsants. These HLA associations have created the promise for prevention through screening and have additionally shed further light on the immunopathogenesis of severe cutaneous adverse reactions. The rollout of HLA-B∗5701 into routine clinical practice as a genetic screening test to prevent abacavir hypersensitivity provides a translational roadmap for other drugs. Numerous hurdles exist in the widespread translation of several other drugs, such as carbamazepine, in which the positive predictive value of HLA-B∗1502 is low and the negative predictive value of HLA-B∗1502 for SJS/TEN might not be 100% in all ethnic groups. International collaborative consortia have been formed with the goal of developing phenotypic standardization and undertaking HLA and genome-wide analyses in diverse populations with these syndromes.

  18. Drug Hypersensitivity: Pharmacogenetics and Clinical Syndromes

    PubMed Central

    Phillips, Elizabeth J.; Chung, Wen-Hung; Mockenhaupt, Maja; Roujeau, Jean-Claude; Mallal, Simon A.

    2011-01-01

    Severe cutaneous adverse reactions (SCARs) include syndromes such as drug reaction, eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson Syndrome/Toxic epidermal necrolysis (SJS/TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes including abacavir hypersensitivity reaction, allopurinol DRESS/DIHS and SJS/TEN and SJS/TEN associated with aromatic amine anticonvulsants. These HLA associations have created the promise for prevention through screening and have additionally shed further light on the immunopathogenesis of SCARs. The roll-out of HLA-B*5701 into routine clinical practice as a genetic screening test to prevent abacavir hypersensitivity provides a translational roadmap for other drugs. Numerous hurdles exist in the widespread translation of several other drugs such as carbamazepine where the positive predictive value of HLA-B*1502 is low and the negative predictive value of HLA-B*1502 for SJS/TEN may not be 100% in all ethnic groups. International collaborative consortia have been formed with the goal of developing phenotype standardization and undertaking HLA and genome-wide analyses in diverse populations with these syndromes. PMID:21354501

  19. Atypical histopathologic features in a melanocytic nevus after cryotherapy and pregnancy.

    PubMed

    Wilford, Casey E; Brantley, Julie S; Diwan, A Hafeez

    2014-10-01

    Melanocytic nevi can undergo clinical and histopathologic changes during pregnancy, as well as after various forms of surgical and nonsurgical trauma. We report the case of a 9-month postpartum 29-year-old female who presented to her dermatologist with a clinically worrisome nevus. This nevus had been treated with liquid nitrogen by her primary care physician 6 months prior to presentation. Histopathologic evaluation revealed a crowded proliferation of atypical melanocytes at the dermal-epidermal junction overlying a scar. The dermal component contained scattered mitotic figures. A combined MART-1, tyrosinase and Ki-67 immunohistochemical study showed foci of increased melanocytic proliferation. These atypical features were interpreted as associated with both the prior cryotherapy, as well as her recent pregnancy. Knowledge of the clinical context in evaluating difficult melanocytic lesions is essential.

  20. Primary Sjogren syndrome: clinical and immunopathologic features.

    PubMed

    Fox, R I; Howell, F V; Bone, R C; Michelson, P

    1984-11-01

    Primary Sjogren syndrome is an autoimmune condition in which dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) result from lymphocytic infiltration of lacrimal and salivary glands. Clinical and laboratory features of 60 primary Sjogren syndrome patients seen at our clinic during the past three years are presented. These patients illustrate the wide spectrum of extraglandular features that may occur as a result of lymphoid infiltration of lung, kidney, skin, stomach, liver, and muscle. They further emphasize the difficulty in classifying a patient as primary or secondary Sjogren syndrome (ie, sicca symptoms associated with systemic lupus erythematosus, rheumatoid arthritis, or scleroderma), particularly early in the disease course. As an initial step in understanding the pathogenesis, the lymphocytes that infiltrate the salivary glands and lymph nodes were characterized by using monoclonal antibodies that recognize distinct lymphocyte subsets and by using in vitro functional assays. These studies have demonstrated that affected tissues have infiltrates of T cells with helper/inducer activity and with a high frequency of "activation antigens." The immunohistologic techniques are useful in differentiating "benign" and "pseudolymphoma" lesions (both due predominantly to T cells) from non-Hodgkin lymphoma (usually due to B-cell infiltrates). Although there is no "cure" for primary Sjogren syndrome patient's symptoms may be significantly improved by measures aimed at prevention of ocular and dental complications and by the recognition of extraglandular features that may be amenable to specific treatment.

  1. Polypoid Spitz Nevus With a Halo Reaction.

    PubMed

    Fernandez-Flores, Angel; Saeb-Lima, Marcela; Rodriguez-Peralto, José Luis

    2017-02-01

    Approximately, 2% of Spitz nevi are polypoid; between 3.6% and 7.4% present with a halo reaction. In tandem, these low percentages make the presence of a polypoid Spitz nevus with a halo reaction uncommon; we have not found reports of any previous cases. In the current report, we present a polypoid Spitz nevus with a halo reaction on the back of a 10-year-old male and discuss the morphologic findings. The lesion showed preserved nuclear expression of BAP1. There was no immunohistochemical expression of BRAF and ALK, while the melanocytic cells expressed p16. Comparative genomic hybridization was performed, and no significant aberrations were found. Only 2 small losses were evidenced in chromosome 8. The patient has been followed now for 2 years with no recurrence.

  2. Clinical and genetic aspects of Angelman syndrome.

    PubMed

    Williams, Charles A; Driscoll, Daniel J; Dagli, Aditi I

    2010-07-01

    Angelman syndrome is characterized by severe developmental delay, speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter. Microcephaly and seizures are common. Developmental delays are first noted at 3 to 6 months age, but the unique clinical features of the syndrome do not become manifest until after age 1 year. Management includes treatment of gastrointestinal symptoms, use of antiepileptic drugs for seizures, and provision of physical, occupational, and speech therapy with an emphasis on nonverbal methods of communication. The diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with lack of maternal contribution. Less than 1% of individuals have a visible chromosome rearrangement. UBE3A sequence analysis detects mutations in an additional 11% of individuals. The remaining 10% of individuals with classic phenotypic features of Angelman syndrome have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. The risk to sibs of a proband depends on the genetic mechanism of the loss of the maternally contributed Angelman syndrome/Prader-Willi syndrome region: typically <1% for probands with a deletion or uniparental disomy; as high as 50% for probands with an imprinting defect or a mutation of UBE3A. Members of the mother's extended family are also at increased risk when an imprinting defect or a UBE3A mutation is present. Chromosome rearrangements may be inherited or de novo. Prenatal testing is possible for certain genetic mechanisms.

  3. Clinical pathology of the shock syndromes

    PubMed Central

    Bonanno, Fabrizio Giuseppe

    2011-01-01

    The clinical aspects of shock syndromes are described from their inception as compensated physiology to a stage of decompensation. The clinical significance of hypotension, fluid-responsive and non fluid-responsive hypotension, is discussed. Untimely or inadequate treatment leads to persistent subclinical shock despite adjustments of the macrohemodynamic variables, which evolves in a second hit of physiological deterioration if not aggressively managed. Irreversible shock ensues as consequence of direct hit or as result of inadequate or delayed treatment and is characterized by drug-resistant hypotension. PMID:21769211

  4. Clinical spectrum of Treacher Collins syndrome.

    PubMed

    Mehrotra, Divya; Hasan, Mahdi; Pandey, Rahul; Kumar, Sumit

    2011-01-01

    Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity.

  5. Clinical spectrum of Treacher Collins syndrome

    PubMed Central

    Mehrotra, Divya; Hasan, Mahdi; Pandey, Rahul; Kumar, Sumit

    2012-01-01

    Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity. PMID:25756016

  6. Is fibromyalgia a distinct clinical syndrome?

    PubMed

    Rau, C L; Russell, I J

    2000-01-01

    The validity of the fibromyalgia syndrome (FMS) as a distinct clinical entity has been challenged for several reasons. Many skeptics express concern about the subjective nature of chronic pain, the subjectivity of the tender point (TeP) examination, the lack of a gold standard laboratory test, and the absence of a clear pathogenic mechanism by which to define FMS. Another expressed concern has been the relative nature of the pain-distress relationship in the rheumatology clinic. The apparently continuous relationship between TePs and somatic distress across a variety of clinical disorders is said to argue against FMS as a separate clinical disorder. The most aggressive challenges of the FMS concept have been from legal defenses of insurance carriers motivated by economic concerns. Other forms of critique have presented as psychiatric dogma, uninformed posturing, suspicion of malingering, ignorance of nociceptive physiology, and occasionally have resulted from honest misunderstanding. It is not likely that a few paragraphs of data and logic will cause an unbeliever to change an ingrained opinion. Therefore, this review describes the clinical manifestations of FMS, responds to some of the theoretic arguments against it, and discusses some possible pathophysiologic mechanisms by which FMS may develop and persist as a unique syndrome.

  7. Cardiac and clinical phenotype in Barth syndrome.

    PubMed

    Spencer, Carolyn T; Bryant, Randall M; Day, Jane; Gonzalez, Iris L; Colan, Steven D; Thompson, W Reid; Berthy, Julie; Redfearn, Sharon P; Byrne, Barry J

    2006-08-01

    Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. The clinical phenotype in Barth syndrome has not been characterized systematically, and the condition may be underrecognized. We sought to evaluate extent of cardioskeletal myopathy, potential for arrhythmia, delays in growth, and biochemical correlates of disease severity in patients with this disorder. We conducted an observational, cross-sectional study of the largest cohort of patients with Barth syndrome to date (n = 34; age range: 1.2-22.6 years). Evaluation included echocardiography, electrocardiography (standard and signal-averaged), microvolt T wave alternans analysis, biochemical and hematologic laboratory analyses, and physical therapy evaluation of skeletal myopathy. Family history was positive for confirmed or suspected Barth syndrome in 63%. Ninety percent of patients had a clinical history of cardiomyopathy (mean age at diagnosis of cardiomyopathy: 5.5 months; at genetic confirmation of Barth syndrome: 4.6 years). Echocardiography revealed a mean ejection fraction of 50% +/- 10%, mean fractional shortening of 28% +/- 5%, and mean left ventricular end-diastolic volume z score of 1.9 +/- 1.8. Left ventricular morphology demonstrated increased trabeculations or true noncompaction in 53%. Of 16 patients who were evaluated at > or = 11 years of age, 7 (43%) had documented ventricular arrhythmia. Growth deficiency was present (mean weight percentile: 15%; mean height percentile: 8%). Laboratory analysis revealed low total white blood cell count (absolute count: < 4000 cells per microL) in 25% of those who were not on granulocyte colony-stimulating factor. Hypocholesterolemia was present in 24%, decreased low-density lipoprotein cholesterol in 56%, low prealbumin in 79%, and mildly elevated creatine kinase in 15

  8. Familial papular epidermal nevus with "skyline" basal cell layer.

    PubMed

    Brena, Michela; Besagni, Francesca; Boneschi, Vinicio; Tadini, Gianluca

    2014-01-01

    Papular epidermal nevus with "skyline" basal cell layer (PENS), a novel keratinocytic nevus, has recently been described as a mosaic condition with varying presentations. We herein describe typical PENS lesions, which usually occur sporadically, affecting two members of the same family. The concept of paradominant inheritance is proposed to explain the paradox of occasional transmission of normally sporadically occurring traits.

  9. Spitz nevus arising upon a congenital glomuvenous malformation.

    PubMed

    Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

    2013-01-01

    There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM.

  10. [Verrucose epidermal nevus with belated grow and pregnancy. Case report].

    PubMed

    Aguilera Martínez, Verónica; Cervantes Villarreal, Gustavo Enrique; Ramos Garibay, Alberto; Ruiz Mondragón, María Eugenia

    2007-10-01

    Verrucose epidermal nevus is a benign and congenital hyperplasia of the superficial epidermis and annexes. It expresses itself during the firs year of life, grows during childhood and in adolescence reaches its largest size. It can appear everywhere in skin surface. We present a case of late verrucose epidermal nevus with genital onset. Differential diagnosis was done with acuminated condylomas.

  11. Antiphospholipid Syndrome Clinical Research Task Force report.

    PubMed

    Erkan, D; Derksen, R; Levy, R; Machin, S; Ortel, T; Pierangeli, S; Roubey, R; Lockshin, M

    2011-02-01

    The Antiphospholipid Syndrome (APS) Clinical Research Task Force (CRTF) was one of six Task Forces developed by the 13(th) International Congress on Antiphospholipid Antibodies (aPL) organization committee with the purpose of: a) evaluating the limitations of APS clinical research and developing guidelines for researchers to help improve the quality of APS research; and b) prioritizing the ideas for a well-designed multicenter clinical trial and discussing the pragmatics of getting such a trial done. Following a systematic working algorithm, the Task Force identified five major issues that impede APS clinical research and the ability to develop evidence-based recommendations for the management of aPL-positive patients: (1) aPL detection has been based on partially or non-standardized tests, and clinical (and basic) APS research studies have included patients with heterogeneous aPL profiles with different clinical event risks; (2) clinical (and basic) APS research studies have included a heterogeneous group of patients with different aPL-related manifestations (some controversial); (3) thrombosis and/or pregnancy risk stratification and quantification are rarely incorporated in APS clinical research; (4) most APS clinical studies include patients with single positive aPL results and/or low-titer aPL ELISA results; furthermore, study designs are mostly retrospective and not population based, with limited number of prospective and/or controlled population studies; and (5) lack of the understanding the particular mechanisms of aPL-mediated clinical events limits the optimal clinical study design. The Task Force recommended that there is an urgent need for a truly international collaborative approach to design and conduct well-designed prospective large-scale multi-center clinical trials of patients with persistent and clinically significant aPL profiles. An international collaborative meeting to formulate a good research question using 'FINER' (Feasible; Interesting

  12. Complete regression of a melanocytic nevus after epilation with diode laser therapy

    PubMed Central

    Boleira, Manuela; de Almeida Balassiano, Laila Klotz; Jeunon3, Thiago

    2015-01-01

    The use of lasers and intense pulsed light (IPL) technology has become an established practice in dermatology and aesthetic medicine. The use of laser therapy and IPL in the treatment of pigmented melanocytic lesions is a controversial issue. We report clinical, dermoscopic and histological changes of a completely regressed pigmented melanocytic nevus after hair removal treatment with the LightSheer™ Diode Laser (Lumenis Ltd, Yokneam, Israel). PMID:26114064

  13. The Alteration of the Epidermal Basement Membrane Complex of Human Nevus Tissue and Keratinocyte Attachment after High Hydrostatic Pressurization.

    PubMed

    Morimoto, Naoki; Jinno, Chizuru; Mahara, Atsushi; Sakamoto, Michiharu; Kakudo, Natsuko; Inoie, Masukazu; Fujisato, Toshia; Suzuki, Shigehiko; Kusumoto, Kenji; Yamaoka, Tetsuji

    2016-01-01

    We previously reported that human nevus tissue was inactivated after high hydrostatic pressure (HHP) higher than 200 MPa and that human cultured epidermis (hCE) engrafted on the pressurized nevus at 200 MPa but not at 1000 MPa. In this study, we explore the changes to the epidermal basement membrane in detail and elucidate the cause of the difference in hCE engraftment. Nevus specimens of 8 mm in diameter were divided into five groups (control and 100, 200, 500, and 1000 MPa). Immediately after HHP, immunohistochemical staining was performed to detect the presence of laminin-332 and type VII collagen, and the specimens were observed by transmission electron microscopy (TEM). hCE was placed on the pressurized nevus specimens in the 200, 500, and 1000 MPa groups and implanted into the subcutis of nude mice; the specimens were harvested at 14 days after implantation. Then, human keratinocytes were seeded on the pressurized nevus and the attachment was evaluated. The immunohistochemical staining results revealed that the control and 100 MPa, 200 MPa, and 500 MPa groups were positive for type VII collagen and laminin-332 immediately after HHP. TEM showed that, in all of the groups, the lamina densa existed; however, anchoring fibrils were not clearly observed in the 500 or 1000 MPa groups. Although the hCE took in the 200 and 500 MPa groups, keratinocyte attachment was only confirmed in the 200 MPa group. This result indicates that HHP at 200 MPa is preferable for inactivating nevus tissue to allow its reuse for skin reconstruction in the clinical setting.

  14. The Alteration of the Epidermal Basement Membrane Complex of Human Nevus Tissue and Keratinocyte Attachment after High Hydrostatic Pressurization

    PubMed Central

    Jinno, Chizuru; Sakamoto, Michiharu; Kakudo, Natsuko; Inoie, Masukazu; Fujisato, Toshia; Suzuki, Shigehiko; Kusumoto, Kenji; Yamaoka, Tetsuji

    2016-01-01

    We previously reported that human nevus tissue was inactivated after high hydrostatic pressure (HHP) higher than 200 MPa and that human cultured epidermis (hCE) engrafted on the pressurized nevus at 200 MPa but not at 1000 MPa. In this study, we explore the changes to the epidermal basement membrane in detail and elucidate the cause of the difference in hCE engraftment. Nevus specimens of 8 mm in diameter were divided into five groups (control and 100, 200, 500, and 1000 MPa). Immediately after HHP, immunohistochemical staining was performed to detect the presence of laminin-332 and type VII collagen, and the specimens were observed by transmission electron microscopy (TEM). hCE was placed on the pressurized nevus specimens in the 200, 500, and 1000 MPa groups and implanted into the subcutis of nude mice; the specimens were harvested at 14 days after implantation. Then, human keratinocytes were seeded on the pressurized nevus and the attachment was evaluated. The immunohistochemical staining results revealed that the control and 100 MPa, 200 MPa, and 500 MPa groups were positive for type VII collagen and laminin-332 immediately after HHP. TEM showed that, in all of the groups, the lamina densa existed; however, anchoring fibrils were not clearly observed in the 500 or 1000 MPa groups. Although the hCE took in the 200 and 500 MPa groups, keratinocyte attachment was only confirmed in the 200 MPa group. This result indicates that HHP at 200 MPa is preferable for inactivating nevus tissue to allow its reuse for skin reconstruction in the clinical setting. PMID:27747221

  15. Prader-Willi Syndrome: Clinical Aspects

    PubMed Central

    Elena, Grechi; Bruna, Cammarata; Benedetta, Mariani; Stefania, Di Candia; Giuseppe, Chiumello

    2012-01-01

    Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy. PMID:23133744

  16. Prader-willi syndrome: clinical aspects.

    PubMed

    Elena, Grechi; Bruna, Cammarata; Benedetta, Mariani; Stefania, Di Candia; Giuseppe, Chiumello

    2012-01-01

    Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2-q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.

  17. Kissing nevus of the penis. Report of two cases and review of the literature*

    PubMed Central

    Wang, Songting; Zhou, Mingshu; Qiao, Jianjun

    2014-01-01

    Kissing nevus is a curious type of nevus that was first described on the eyelids and rarely described on the penis. We report two cases of kissing nevus of the penis and review previously reported cases. The lesions of the kissing nevus of the penis showed characteristic mirror-image symmetry relative to the coronal sulcus. On histopathology, the lesion showed a compound nevus. PMID:24770514

  18. The clinics of acute coronary syndrome

    PubMed Central

    Rastelli, Gianni

    2016-01-01

    Risk stratification and management of patients with chest pain continues to be challenging despite considerable efforts made in the last decades by many clinicians and researchers. The throutful evaluation necessitates that the physicians have a high index of suspicion for acute coronary syndrome (ACS) and always keep in mind the myriad of often subtle and atypical presentations of ischemic heart disease, especially in certain patient populations such as the elderly ones. In this article we aim to review and discuss the available evidence on the value of clinical presentation in patients with a suspected ACS, with special emphasis on history, characteristics of chest pain, associated symptoms, atypical presentations, precipitating and relieving factors, drugs, clinical rules and significance of clinical Gestalt. PMID:27294087

  19. Association of giant congenital melanocytic nevus, halo nevus and vitiligo in a 75-year-old patient.

    PubMed

    Silveira, Marina Leite da; Ferreira, Flávia Regina; Alvarenga, Marcia Lanzoni; Mandelbaum, Samuel Henrique

    2012-01-01

    A giant congenital melanocytic nevus represents a rare condition. The halo phenomenon may be seen in congenital or acquired melanocytic nevi. In the literature, association of halo nevus and giant congenital melanocytic nevus is rare and the association of both with vitiligo even more rare. A 75-yearold woman at first consultation complained of a hyperchromic bluish-brown hairy macula on the lower back, buttocks and thighs present since birth and an achromic halo of onset three years ago. The histological features were consistent with congenital melanocytic nevus and halo nevus, respectively. After two years the patient developed achromic areas in normal skin, histologically consistent with vitiligo. The authors emphasize the rarity of this triple combination, the patient's age and the absence of malignant degeneration to date.

  20. Analysis of 28 Chinese Cases of Bilateral Nevus of Ota and Therapeutic Results With the Q-Switched Alexandrite Laser.

    PubMed

    Yang, Jing; Luo, Gaoping; Tuyana, Sanusi; Tong, Xiaorong; Tu, Yating; Tao, Juan

    2016-02-01

    Nevus of Ota is a dermal melanocytic lesion that presents as bluish hyperpigmentation along the first or second branch of the trigeminal nerve. It is common in Asians. However, bilateral involvement is rare. There has been no detailed report on bilateral involvement in Chinese people. To analyze the clinical data on bilateral nevus of Ota in Chinese patients and determine the efficacy of pulsed q-switched alexandrite laser treatment. Twenty-eight cases of bilateral nevus of Ota were diagnosed by clinical appearance, and detailed clinical data were collected. A q-switched alexandrite laser was used for treatment. The incidence of bilateral nevus of Ota was 1.4% (28 of 1985). More than 3 regions were involved in most patients (96.4%), and symmetrical lesions were observed in approximately 60% of cases (17 of 28). The lesion was seen at or soon after birth in 15 patients (53.6%); two-thirds of these patients (10 of 15) had ocular or mucosal involvement. The therapeutic results were excellent or good in 17 cases; the group that received more than 3 treatments and age of starting treatment being less than 6 years had better therapeutic results. The pulsed q-switched alexandrite laser is an effective treatment, and earlier intervention with more sessions achieves better results.

  1. Pineal region tumors: Clinical symptoms and syndromes.

    PubMed

    Rousselle, C; des Portes, V; Berlier, P; Mottolese, C

    2015-01-01

    The present paper investigates the clinical picture and the different clinical signs that reveal pineal region tumors or appear during the course of the follow-up. Biological malignancy and tumor extension determine the semiology and its setting up mode. Typical endocrine signs, dominated by abnormal puberty development, are frequently a part of the clinical scene. Bifocal or ectopic localization in the hypothalamic-pituitary region is accompanied by other endocrine signs such as ante- or post-pituitary insufficiencies which occur several months or even years after the first neurological signs appear. Due to a mass syndrome and obstructive hydrocephalus, intracranial hypertension signs are frequent but unspecific. A careful ophthalmologic examination is essential to search upward gaze paralysis and other signs of the Parinaud's tetrad or pentad. Midbrain dysfunction, including extrinsic aqueduct stenosis, are also prevalent. Except for abnormal pubertal signs, hyper-melatoninemia (secretory tumors) or a-hypo-melatoninemia (tumors destructing pineal) generally remains dormant. Some patients present sleep problems such as narcolepsy or sleepiness during the daytime as well as behavioral problems. This suggests a hypothalamic extension rather than a true consequence of melatonin secretion anomalies. Similarly, some patients may present signs of a "pinealectomized" syndrome, including (cluster) headaches, tiredness, eventually responsive to melatonin.

  2. Kabuki syndrome: clinical and molecular characteristics

    PubMed Central

    Cheon, Chong-Kun

    2015-01-01

    Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS. PMID:26512256

  3. Clinical and genetic aspects of KBG syndrome.

    PubMed

    Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton-Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; McConnell, Vivienne; McEntagart, Meriel; Metcalfe, Kay; Montgomery, Tara; Newbury-Ecob, Ruth; Stewart, Fiona; Turnpenny, Peter; Vogt, Julie; Fitzpatrick, David; Williams, Maggie; Smithson, Sarah

    2016-11-01

    KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. We describe 32 KBG patients aged 2-47 years from 27 families ascertained via two pathways: targeted ANKRD11 sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were almost universal and variable behavioral problems frequent. Macrodontia of permanent upper central incisors was seen in 85%. Other clinical features included short stature, conductive hearing loss, recurrent middle ear infection, palatal abnormalities, and feeding difficulties. We recognized a new feature of a wide anterior fontanelle with delayed closure in 22%. The subtle facial features of KBG syndrome were recognizable in half the patients. We identified 20 ANKRD11 mutations (18 novel: all truncating) confirmed by Sanger sequencing in 32 patients. Comparison of the two ascertainment groups demonstrated that facial/other typical features were more subtle in the ES group. There were no conclusive phenotype-genotype correlations. Our findings suggest that mutation of ANKRD11 is a common Mendelian cause of developmental delay. Affected patients may not show the characteristic KBG phenotype and the diagnosis is therefore easily missed. We propose updated diagnostic criteria/clinical recommendations for KBG syndrome and suggest that inclusion of ANKRD11 will increase the utility of gene panels designed to investigate developmental delay. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

  4. Oral Congenital Melanocytic Nevus: A Rare Case Report and Review of the Literature.

    PubMed

    Marangon Júnior, Helvécio; Souza, Paulo Eduardo Alencar; Soares, Rodrigo Villamarim; de Andrade, Bruno Augusto Benevenuto; de Almeida, Oslei Paes; Horta, Martinho Campolina Rebello

    2015-12-01

    Melanocytic nevi are congenital or acquired benign proliferations of cells of melanocytic origin. Oral congenital melanocytic nevi are rare, and only a few cases have been reported in the literature. The purpose of this study is to present the clinical, histological and immunohistochemical features of an oral congenital melanocytic nevus in a 16-year-old female with an 11-year follow-up and to review the pertinent literature. The reported case is the fifth well-documented case report of oral congenital melanocytic nevus in the English literature and the first with a long period of follow-up, thereby making it an important contribution to the knowledge regarding this uncommon oral mucosa lesion.

  5. [DRESS syndrome. A clinical case report].

    PubMed

    Muciño-Bermejo, Jimena; Díaz de León-Ponce, Manuel; Briones-Vega, Carlos Gabriel; Guerrero-Hernández, Antonio; Sandoval-Ayala, Oswaldo Israel; Sáenz-Coronado, Ana Gabriela; Briones-Garduño, Jesús Carlos

    2013-01-01

    DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) or reaction to drugs with eosinophilia and systemic symptoms is a serious drug reaction associated with the use of aromatic anticonvulsants and allopurinol. At least 44 drugs have been associated with DRESS. The aim was to present the case of a patient with DRESS syndrome associated with phenytoin. a 20 year old woman, with a history of seizures since childhood, presented generalised tonic-clonic seizures for the last three months. Therefore, she began treatment with 100 mg of phenytoin, administered orally, every 8 hours. Three weeks later, she developed fever up to 42 degrees, papules in the hands extending to trunk and extremities, generalized rubicund, pruritus, pain while urinating, adding hyperoxia, dysphagia and dry cough. Consequently, she went to the emergency room. the diagnosis is clinical and it is set according to the criteria of the scale of RegiSCAR. As the initial manifestations are unspecific, the diagnosis and treatment could be delayed. The importance of recognizing this syndrome is an early treatment to get better prognostics. The mortality is up to 10 %.

  6. Non pigmented melanocytic nevus of the oral cavity: a case report with emphasis on the surgical excision procedures.

    PubMed

    Porrini, R; Valente, G; Colombo, E; Cannas, M; Sabbatini, M

    2013-01-01

    We report a case of a 37-year-old caucasian woman presenting a 1 cm pinkish nodular asymptomatic lesion of the hard palate, slowly growing in the last years. The lesion underwent to biopsy. Histological analysis showed the nevus tissue layered under a continuous squamous epithelium. The stroma contained nests of medium-sized round cells, with regular monomorphous nuclei. The nevus cells were immunohistochemically positive for S-100 protein, while melanin, visualized by Masson-Fontana silver staining, was absent. Therefore a diagnosis of non pigmented melanocytic nevus was formulated. Because of its rarity and to avoid any risk of malignant transformation, a surgical treatment with wide excision was chosen; the surgical wound was previously covered with a membrane of fibrin and autologous platelets, and subsequently sutured, resulting in a total heal. This procedure seems to be the most reliable to approach melanocytic lesions of the oral cavity. Clinical diagnosis of non-pigmented nevi, either flat or protruding, is difficult, because the nevus shows a pinkish colour that is indistinguishable from that of the surrounding mucosa. Moreover, attention is required when similar clinical evidence occurs, because the localization inside the oral cavity may offer several problems of differential diagnosis.

  7. Metabolic Syndrome: An Evolving Clinical Construct.

    PubMed

    Vassallo, Patricia; Driver, Steven L; Stone, Neil J

    Metabolic syndrome (MetS), a clustering of metabolic risk factors, identifies individuals at increased risk of diabetes and cardiovascular disease (CVD). Measurement of waist circumference, high-density lipoprotein-cholesterol, triglycerides, blood pressure and fasting blood glucose are easily obtained in the clinic. At any level of low-density lipoprotein-cholesterol, presence of MetS increases the risk of adverse CVD outcomes including bothatherosclerotic CVD and atrial fibrillation. The MetS construct should focus the clinician on recommending behavioral lifestyle modification as this improves all of its components. The challenge, however, has been the lack of a standardized approach to achieve effective and sustained lifestyle modification in clinical practice. We briefly review various approaches useful to the clinician in counseling such patients. These include group lifestyle programs and emerging mobile technology. Technology alone may not be sufficient, but as an adjunct has the promise to improve low rates of behavioral change currently seen with traditional programs.

  8. Malignant transformation of kissing nevus- a rare entity.

    PubMed

    Kharel Sitaula, R; Batta, S; Shrestha, G B; Shrestha, J K

    2012-01-01

    Kissing nevus is a congenital nevus in adjacent parts of the eyelids. Malignant transformation of kissing or divided nevi of the eyelids is rarely described. To report a very rare case of malignant transformation of kissing nevus with ocular and extraocular spread. A 57- year- old man with 6/6 visual acuity in both eyes presented with a kissing nevus present since birth in right upper and lower eyelids which had a slow growth phase. The upper lid in the area of the nevus was thickened with a 20x12x15 mm black pigmented crusted hemorrhagic nodular lesions. The lower lid had a 6 mm black pigmented ulcerated lesion over the pre-existing nevus in the lateral third of the lid with full thickness infiltration. Another 5x4 mm pigmented lesion over the lower medial lid margin with a thickness of about 3 mm extended to the conjunctival side of the lower lid. Right sided pre-auricular and sub-maxillary nodes were palpable. A biopsy of tissue samples from the eyelid and pre-auricular nodes were consistent with malignant melanoma. Malignant transformation of kissing nevus is rare. It can spread to the conjunctiva,pre-auricular and sub-mandibular lymphnodes. © NEPjOPH.

  9. Blau syndrome, clinical and genetic aspects.

    PubMed

    Sfriso, Paolo; Caso, Francesco; Tognon, Sofia; Galozzi, Paola; Gava, Alessandra; Punzi, Leonardo

    2012-11-01

    Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous recurrent uveitis, dermatitis and symmetric arthritis. The gene responsible for BS has been identified in the caspase recruitment domain gene CARD15/NOD2. In the majority of patients, the disease is characterized by early onset, usually before 3-4years of age. The manifestations at disease onset are usually represented by articular and cutaneous involvement signs, generally followed later by ocular manifestations which are often the most relevant morbidity of BS. In some cases the presence of fever is also observed; atypical cases of BS have been reported with cardiovascular, neurological, renal, intestinal and other organ involvement. The rarity and the variations in the severity and evolution of its expressions do not permit sufficient data about optimal treatment for patients with BS. The first step of therapy is represented by the use of corticosteroids and successively, in case of unsatisfactory response, by additional treatment with immunosuppressive agents. The results with biologic anti-cytokine agents, such as anti-TNFα and anti-IL1β, are different, particularly with regard to ocular morbidity. Clinical and genetic aspects of the familial and the sporadic form of BS will be discussed and focused on. A description of a case study of an Italian family is also included.

  10. A clinical study of Noonan syndrome.

    PubMed Central

    Sharland, M; Burch, M; McKenna, W M; Paton, M A

    1992-01-01

    Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were present in 76% of the group. Although the children were short (50% with a height less than 3rd centile), and underweight (43% with a weight less than 3rd centile), the mean head circumference of the group was on the 50th centile. Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. Abnormal vision (94%) and hearing (40%) were frequent findings, but 89% of the group were attending normal primary or secondary schools. Other associations included undescended testicles (77%), hepatosplenomegaly (50%), and evidence of abnormal bleeding (56%). The mean age at diagnosis of Noonan syndrome in this group was 9.0 years. Earlier diagnosis of this common condition would aid both clinical management and genetic counselling. Images Figure 1 Figure 2 Figure 3 PMID:1543375

  11. A peculiar case of facial congenital nevus.

    PubMed

    Scaglioni, Mario F; Bauer, M T; Giuseppe, Alberto Di

    2014-08-01

    Reconstruction of congenital nevi is difficult and challenging, but becomes even more so when they occur on the face due to functional and aesthetic reasons. Traditionally, these lesions have been treated with tissue expansion, sequential resection, and local flap closure with or without skin grafts. Here, we present a case reconstructing a large facial defect involving the entire cheek facial subunit following excision of a giant congenital nevus with a free anterolateral thigh flap. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  12. Congenital agminated melanocytic nevus - case report*

    PubMed Central

    da Rocha, Camila Roos Mariano; Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Luzzatto, Laura; Bonamigo, Renan Rangel

    2013-01-01

    Agminated nevus is a cluster group of melanocytic nevi confined to a localized area of the body. There are many pigmented lesions described in the literature as agminated, such as blue nevi, multiple lentigines and Spitz nevi, but only a few cases of congenital agminated melanocytic nevi have been described. We report a case of a male child who presented with congenital agminated nevi, emphasizing the importance of physical examination, dermoscopy, histopathological evaluation, differential diagnosis and follow up to rule out the possibility of dysplastic or malignant changes. PMID:24346910

  13. Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea).

    PubMed

    Tinschert, Sigrid; Stein, Anette; Göldner, Burkhard; Dietel, Manfred; Happle, Rudolf

    2003-01-01

    We report an unusual case of unilateral melorheostosis and ipsilateral extensive sebaceous nevus. Because the two conditions affected the same side of the body, we hypothesize that they originated from a common genetic mechanism. The temporal and spatial co-occurrence may represent a further example of non-allelic didymosis (twin spotting). The embryo would carry two different recessive mutations at one gene locus or at linked loci on either of a pair of homologous chromosomes. Postzygotic recombination occurring during early embryonic development would result in two different populations of cells homozygous for either mutation. If this concept holds true, the present case may be described as " didymosis melorheosebacea ".

  14. Symptom Severity of Restless Legs Syndrome Predicts Its Clinical Course.

    PubMed

    Lee, Chung Suk; Kim, Tae; Lee, Sumin; Jeon, Hong Jun; Bang, Young Rong; Yoon, In-Young

    2016-04-01

    This study examines the clinical course of restless legs syndrome according to its severity and factors associated with the remission of restless legs syndrome symptoms. The remission or persistence of restless legs syndrome symptoms was investigated by considering patients with restless legs syndrome at the sleep clinic of Seoul National University Bundang Hospital. All subjects were observed for at least 18 months, and an incidence of remission was defined as having no restless legs syndrome symptoms for at least 1 year. Restless legs syndrome severity was evaluated by the International Restless Legs Syndrome Study Group Rating Scale. A total of 306 patients participated in this study. Over the observation periods of 4.1 ± 1.6 years, the cumulative incidence of remission is 32.5% (95% confidence interval [CI], 27.0-38.0) and decreased with baseline restless legs syndrome severity (P < .001): 60% (95% CI, 44.9-75.1), 44% (95% CI, 34.4-53.6), and 16.7% (95% CI, 10.6-22.8) in mild, moderate, and severe to very severe restless legs syndrome cases, respectively. Most cases of remission (82/96) were observed within 1 year, and the remission occurred sooner for mild restless legs syndrome. The hazard ratios of remission by Cox proportional hazards model were lower for moderate (0.556; 95% CI, 0.340-0.909) and severe to very severe (0.193; 95% CI, 0.108-0.343) restless legs syndrome than for mild restless legs syndrome. The remission incidence was lower for those patients who had a family history of restless legs syndrome and were older at restless legs syndrome diagnosis. Mild restless legs syndrome severity, no family history, and young age at restless legs syndrome diagnosis were significant predictors of restless legs syndrome remission. More than 80% of patients with severe restless legs syndrome showed a chronic clinical course. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Clinical Characteristics of Marfan Syndrome in Korea.

    PubMed

    Lim, A Young; Song, Ju Sun; Kim, Eun Kyoung; Jang, Shin Yi; Chung, Tae-Young; Choi, Seung-Hyuk; Sung, Kiick; Huh, June; Kang, I-Seok; Choe, Yeon Hyeon; Ki, Chang-Seok; Kim, Duk-Kyung

    2016-11-01

    Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was

  16. Clinical Characteristics of Marfan Syndrome in Korea

    PubMed Central

    Lim, A Young; Song, Ju Sun; Kim, Eun Kyoung; Jang, Shin Yi; Chung, Tae-Young; Choi, Seung-Hyuk; Sung, Kiick; Huh, June; Kang, I-Seok; Choe, Yeon Hyeon; Ki, Chang-Seok

    2016-01-01

    Background and Objectives Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. Subjects and Methods We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. Results The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. Conclusion We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present

  17. Clinically Isolated Syndromes: Clinical Characteristics, Differential Diagnosis, and Management

    PubMed Central

    EFENDİ, Hüsnü

    2015-01-01

    Clinically isolated syndrome (CIS) is a term that describes the first clinical onset of potential multiple sclerosis (MS). The term CIS is typically applied to young adults with episodes of acute or subacute onset, which reaches a peak quite rapidly within 2–3 weeks. In 85% of young adults who develop MS, onset occurs with an acute, CIS of the optic nerves, brainstem, or spinal cord. When clinically silent brain lesions are seen on MRI, the likelihood of developing MS is high. Because no single clinical feature or diagnostic test is sufficient for the diagnosis of CIS, diagnostic criteria have included a combination of both clinical and paraclinical studies. Diagnostic criteria from the International Panel of McDonald and colleagues incorporate MRI evidence of dissemination in time and space to allow a diagnosis of definite MS in patients with CIS. As CIS is typically the earliest clinical expression of MS, research on patients with CIS may provide new insights into early pathological changes and pathogenetic mechanisms that might affect the course of the disorder. With recent improvements in diagnosis and the advent of disease-modifying treatments for MS, there has been growing interest and research in patients with CIS.

  18. Photodynamic therapy for polypoidal choroidal vasculopathy secondary to choroidal nevus

    PubMed Central

    Wong, James G; Lai, Xin Jie; Sarafian, Richard Y; Wong, Hon Seng; Smith, Jeremy B

    2017-01-01

    We report a case of a Caucasian female who developed active polypoidal choroidal vasculopathy (PCV) at the edge of a stable choroidal nevus and was successfully treated with verteporfin photodynamic therapy. No active polyp was detectable on indocyanine green angiography 2 years after treatment, and good vision was maintained. Indocyanine green angiography is a useful investigation to diagnose PCV and may be underutilized. Unlike treatment of choroidal neovascularization secondary to choroidal nevus, management of PCV secondary to nevus may not require intravitreal anti-vascular endothelial growth factor therapy. Photodynamic monotherapy may be an effective treatment of secondary PCV. PMID:28243154

  19. [Obstructive sleep apnea syndrome: clinical history and physical examination].

    PubMed

    Guimarães, Gleison Marinho

    2010-06-01

    Although obstructive sleep apnea syndrome is a common disease, it often goes undiagnosed. The signs and symptoms of the syndrome are mostly subjective. Therefore, snoring, daytime sleepiness, fatigue, dejection and mood changes should raise the suspicion of obstructive sleep apnea syndrome. Scales and tables that have good sensitivity and include the most relevant clinical symptoms and physical examination results can suggest a diagnosis of obstructive sleep apnea syndrome. The diagnosis is confirmed by polysomnography, which is considered the gold standard method.

  20. Mitotically active proliferative nodule arising in a giant congenital melanocytic nevus: a diagnostic pitfall.

    PubMed

    Nguyen, Thuy L T; Theos, Amy; Kelly, David R; Busam, Klaus; Andea, Aleodor A

    2013-02-01

    Proliferative (cellular) nodules (PN) which mimic malignant melanoma clinically and histologically are described in congenital melanocytic nevi (CMN) and may pose significant diagnostic challenges. We report the case of a 10-day-old male with a giant congenital nevus involving the neck, upper chest, back, and left shoulder containing several nodular lesions, some crusted. Biopsy of a nodule revealed densely packed nevus cells with hyperchromatic round to oval and occasionally irregularly shaped nuclei. There was no necrosis or pushing border, and the nodule blended with the adjacent nevus; however, the lesion demonstrated a significant number of mitoses (27 per mm2) and a 60% labeling index with Ki-67. Further analysis by fluorescence in situ hybridization (FISH) with a 4-color probe set targeting 6p25, 6q23, 11q13, and centromere 6 revealed increased chromosomal copy numbers of all 4 probes, which was interpreted as evidence of polyploidy. In addition, analysis of DNA copy number changes using a single nucleotide polymorphism microarray (Affymetrix, Santa Clara, CA) showed no chromosomal aberrations. The diagnosis of PN in a giant congenital nevus was eventually rendered. At 13-month follow-up, the nodules showed no evidence of growth. Our case illustrates that PNs in the neonatal period might demonstrate extreme mitotic activity. This feature is worrisome when encountered in melanocytic lesions; however, it should not trigger by itself a diagnosis of melanoma in the absence of other histologic criteria of malignancy. In addition, we document polyploidy by FISH in PN, which can potentially be misinterpreted as a FISH-positive result.

  1. A Case of Epidermal Nervous Syndrome with a Novel Association of Congenital Cystic Dysplastic Kidney with Numerous Nephroblastic Proliferations

    DTIC Science & Technology

    2016-04-19

    Epidermal nevus syndrome is a broad term encompassing several disease processes. These entities are united by their association with epidermal nevi...and extracutaneous abnormalities. Renal aberrancies associated with this syndrome include nephroblastoma, hamartomas, hypoplasia, and renal agenesis...However, there are no well-described, documented cases of dysplastic kidney with cystic nephroblastic proliferation associated with epidermal nevus

  2. Histopathologic and mutational analysis of a case of blue nevus-like melanoma.

    PubMed

    Dai, Julia; Tetzlaff, Michael T; Schuchter, Lynn M; Elder, David E; Elenitsas, Rosalie

    2016-09-01

    Blue nevi are a heterogeneous group of dermal melanocytic proliferations that share a common clinical appearance but remain controversial in their histopathologic and biologic distinction. While common blue nevi and cellular blue nevi are well-defined entities that are classified without significant controversy, the distinction between atypical cellular blue nevi and blue nevus-like melanoma remains diagnostically challenging. We report a case of a 46-year-old female with recurrent blue nevus-like melanoma of the scalp with liver metastases; mutational analysis showed GNA11 Q209L and BAP1 Q393 mutations. To our knowledge, this is the first case of blue nevus-like melanoma with GNA11 and BAP1 mutations. These particular mutations and the predilection for liver metastases in our patient's case underscore a fundamental biological relationship between blue nevi and uveal melanoma and suggest the two entities may prove amenable to similar diagnostic and prognostic testing and targeted therapies. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Klinefelter's syndrome: a clinical and therapeutical update.

    PubMed

    Forti, G; Corona, G; Vignozzi, L; Krausz, C; Maggi, M

    2010-09-01

    The prevalence of the Klinefelter's syndrome, ranging between 1/500 and 1/1,000 in the general male population, rises up to 3-4% among infertile males and to 10-12% in azoospermic patients. Due to the paucity of symptoms, only 10% of Klinefelter patients are diagnosed prepubertally. The clinical spectrum of the phenotype of adult Klinefelter patients is very broad and ranges from clinically overt hypogonadism to normally virilized males. The diagnosis is usually made during the evaluation of couple infertility. The only nearly constant clinical feature is the reduced testicular volume and azoospermia or, in few cases, cryptozoospermia. Due to the variability of the phenotype and also to the fact that the main symptoms of the syndrome (androgen deficiency, infertility) are in the reproductive domain, approximately two thirds of Klinefelter patients are not diagnosed during their life. Low/normal testosterone and high levels of the luteinizing hormone (LH) suggest that all Klinefelter patients have overt or compensated hypogonadism which should be treated with testosterone, starting from the peri-pubertal age. Even if no medical treatment is possible for infertility, testicular sperm for assisted reproduction techniques can be obtained by multiple testicular biopsies in experienced centers in up to 50% of subjects. Although there are no predictors for successful sperm retrieval, the birth of 101 children with normal karyotype was reported in the last 15 years. Furthermore, the genetic risk to the offspring of Klinefelter patients has recently not been found to be greater than that of patients with nonobstructive azoospermia with normal karyotype.

  4. Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

    PubMed Central

    Tartaglia, M.; Zampino, G.; Gelb, B.D.

    2010-01-01

    Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeletal defects, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition to hematologic malignancies during childhood. NS is caused by mutations in the PTPN11, SOS1, KRAS, RAF1, BRAF and MEK1 (MAP2K1) genes, accounting for approximately 70% of affected individuals. SHP2 (encoded by PTPN11), SOS1, BRAF, RAF1 and MEK1 positively contribute to RAS-MAPK signaling, and possess complex autoinhibitory mechanisms that are impaired by mutations. Similarly, reduced GTPase activity or increased guanine nucleotide release underlie the aberrant signal flow through the MAPK cascade promoted by most KRAS mutations. More recently, a single missense mutation in SHOC2, which encodes a cytoplasmic scaffold positively controlling RAF1 activation, has been discovered to cause a closely related phenotype previously termed Noonan-like syndrome with loose anagen hair. This mutation promotes aberrantly acquired N-myristoylation of the protein, resulting in its constitutive targeting to the plasma membrane and dysregulated function. PTPN11, BRAF and RAF1 mutations also account for approximately 95% of LEOPARD syndrome, a condition which resembles NS phenotypically but is characterized by multiple lentigines dispersed throughout the body, café-au-lait spots, and a higher prevalence of electrocardiographic conduction abnormalities, obstructive cardiomyopathy and sensorineural hearing deficits. These recent discoveries demonstrate that the substantial phenotypic variation characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved. PMID:20648242

  5. Postural orthostatic tachycardia syndrome: a clinical review.

    PubMed

    Johnson, Jonathan N; Mack, Kenneth J; Kuntz, Nancy L; Brands, Chad K; Porter, Coburn J; Fischer, Philip R

    2010-02-01

    Postural orthostatic tachycardia syndrome was defined in adult patients as an increase >30 beats per minute in heart rate of a symptomatic patient when moving from supine to upright position. Clinical signs may include postural tachycardia, headache, abdominal discomfort, dizziness/presyncope, nausea, and fatigue. The most common adolescent presentation involves teenagers within 1-3 years of their growth spurt who, after a period of inactivity from illness or injury, cannot return to normal activity levels because of symptoms induced by upright posture. Postural orthostatic tachycardia syndrome is complex and likely has numerous, concurrent pathophysiologic etiologies, presenting along a wide spectrum of potential symptoms. Nonpharmacologic treatment includes (1) increasing aerobic exercise, (2) lower-extremity strengthening, (3) increasing fluid/salt intake, (4) psychophysiologic training for management of pain/anxiety, and (5) family education. Pharmacologic treatment is recommended on a case-by-case basis, and can include beta-blocking agents to blunt orthostatic increases in heart rate, alpha-adrenergic agents to increase peripheral vascular resistance, mineralocorticoid agents to increase blood volume, and serotonin reuptake inhibitors. An interdisciplinary research approach may determine mechanistic root causes of symptoms, and is investigating novel management plans for affected patients.

  6. [Prevalence for clinically proved carpal tunnel syndrome is 4 percent].

    PubMed

    Atroshi, I; Gummesson, C; Johnsson, R; Ornstein, E; Ranstam, J; Rosén, I

    2000-04-05

    This article summarizes the results of a large-scale population-based study conducted to determine the prevalence of carpal tunnel syndrome in the Swedish general population. The study utilized a health questionnaires as well as clinical and electrophysiological examinations. Population prevalence rates of carpal tunnel syndrome, based on clinical diagnosis and electrophysiological criteria, were calculated. Obesity and specific work-related hand activities were shown to be risk factors for carpal tunnel syndrome.

  7. Allan-Herndon syndrome. I. Clinical studies.

    PubMed Central

    Stevenson, R E; Goodman, H O; Schwartz, C E; Simensen, R J; McLean, W T; Herndon, C N

    1990-01-01

    A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Twenty-nine males have been affected in seven generations. Clinical features include severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, and Babinski reflexes. The facies appear elongated with normal head circumference, bitemporal narrowing, and large, simple ears. Contractures develop at both small and large joint. Statural growth is normal and macroorchidism does not occur. Longevity is not impaired. High-resolution chromosomes, serum creatine kinase, and amino acids are normal. This condition, termed the Allan-Herndon syndrome, appears distinct from other X-linked disorders having mental retardation, muscle hypoplasia, and spastic paraplegia. Images Figure 2 Figure 3 PMID:2393019

  8. Clinical correlates of the restless legs syndrome.

    PubMed

    Marin, Luis Fabiano; Felicio, Andre Carvalho; Santos, William Adolfo; Prado, Lucila Bizari; Prado, Gilmar Fernandes

    2012-07-01

    To determine the clinical correlates of the restless legs syndrome (RLS) in a Brazilian sleep disorders center. We retrospectively studied 118 patients with RLS from January, 2004, to December, 2010. The analyzed variables were: age at disease onset, gender, race, years of school instruction, primary and secondary RLS, and treatment options. Among the studied patients, 83.9% were women with a female/male sex ratio of 5:1. Mean age of the patients at symptom onset ± standard deviation was 41.7±17.9 years-old. The primary RLS was found in 85% of patients. The other 15% remainders consisted of secondary forms, and they were associated with neuropathy, iron deficiency anemia, end-stage renal disease, or Parkinson's disease. Drug therapy for RLS was introduced in 67% of patients. Most patients presented primary RLS with an early disease onset. Further epidemiological studies are welcomed to provide better information on secondary RLS in Brazil.

  9. Prader-Willi Syndrome: Clinical and Genetic Findings

    PubMed Central

    Butler, Merlin G.; Thompson, Travis

    2016-01-01

    Since the initial medical description by Prader, Labhart and Willi in 1956 of individuals with overlapping features, the Prader-Willi syndrome has become recognized as a classical but sporadic genetic syndrome. Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in humans. It is estimated that there are 350,000–400,000 people with this syndrome worldwide. Prader-Willi Syndrome Association USA knows of more than 3,400 persons with Prader-Willi syndrome in the USA out of an approximate 17,000–22,000. Prader-Willi syndrome with an incidence of 1 in 10,000 to 25,000 individuals and Angelman syndrome, an entirely different clinical condition, were the first examples in humans of genetic imprinting. Genetic imprinting or the differential expression of genetic information depending on the parent of origin plays a significant role in other conditions including malignancies. PMID:27570435

  10. High nevus counts confer a favorable prognosis in melanoma patients.

    PubMed

    Ribero, Simone; Davies, John R; Requena, Celia; Carrera, Cristina; Glass, Daniel; Rull, Ramon; Vidal-Sicart, Sergi; Vilalta, Antonio; Alos, Lucia; Soriano, Virtudes; Quaglino, Pietro; Traves, Victor; Newton-Bishop, Julia A; Nagore, Eduardo; Malvehy, Josep; Puig, Susana; Bataille, Veronique

    2015-10-01

    A high number of nevi is the most significant phenotypic risk factor for melanoma and is in part genetically determined. The number of nevi decreases from middle age onward but this senescence can be delayed in patients with melanoma. We investigated the effects of nevus number count on sentinel node status and melanoma survival in a large cohort of melanoma cases. Out of 2,184 melanoma cases, 684 (31.3%) had a high nevus count (>50). High nevus counts were associated with favorable prognostic factors such as lower Breslow thickness, less ulceration and lower mitotic rate, despite adjustment for age. Nevus count was not predictive of sentinel node status. The crude 5- and 10-year melanoma-specific survival rate was higher in melanomas cases with a high nevus count compared to those with a low nevus count (91.2 vs. 86.4% and 87.2 vs. 79%, respectively). The difference in survival remained significant after adjusting for all known melanoma prognostic factors (hazard ratio [HR] = 0.43, confidence interval [CI] = 0.21-0.89). The favorable prognostic value of a high nevus count was also seen within the positive sentinel node subgroup of patients (HR = 0.22, CI = 0.08-0.60). High nevus count is associated with a better melanoma survival, even in the subgroup of patients with positive sentinel lymph node. This suggests a different biological behavior of melanoma tumors in patients with an excess of nevi. © 2015 The Authors. Published by Wiley Periodicals, Inc. on behalf of UICC.

  11. Clinical review: Klinefelter syndrome--a clinical update.

    PubMed

    Groth, Kristian A; Skakkebæk, Anne; Høst, Christian; Gravholt, Claus Højbjerg; Bojesen, Anders

    2013-01-01

    Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries. PubMed was searched for "Klinefelter," "Klinefelter's," and "XXY" in titles and abstracts. Relevant papers were obtained and reviewed, as well as other articles selected by the authors. KS is the most common sex chromosome disorder in males, affecting one in 660 men. The genetic background is the extra X-chromosome, which may be inherited from either parent. Most genes from the extra X undergo inactivation, but some escape and serve as the putative genetic cause of the syndrome. KS is severely underdiagnosed or is diagnosed late in life, roughly 25% are diagnosed, and the mean age of diagnosis is in the mid-30s. KS is associated with an increased morbidity resulting in loss of approximately 2 yr in life span with an increased mortality from many different diseases. The key findings in KS are small testes, hypergonadotropic hypogonadism, and cognitive impairment. The hypogonadism may lead to changes in body composition and a risk of developing metabolic syndrome and type 2 diabetes. The cognitive impairment is mainly in the area of language processing. Boys with KS are often in need of speech therapy, and many suffer from learning disability and may benefit from special education. Medical treatment is mainly testosterone replacement therapy to alleviate acute and long-term consequences of hypogonadism as well as treating or preventing the frequent comorbidity. More emphasis should be placed on increasing the rate of diagnosis and generating evidence for timing and dose of testosterone replacement. Treatment of KS should be a multidisciplinary task including pediatricians, speech therapists, general practitioners, psychologists, infertility specialists, urologists, and endocrinologists.

  12. [EMO-syndrome. Clinical and roentgenologic signs].

    PubMed

    Lubach, D; Freyschmidt, J

    1981-02-01

    The EMO-syndrome (thyroid acropachy) consists of the triad of exophthalmos, circumscribed pretibial myxedema and clubbing of fingers and toes. This report describes a patients with EMO-syndrome. The skeletal changes are discussed.

  13. Clinical variants of Guillain-Barré syndrome in children.

    PubMed

    Lin, Jainn-Jim; Hsia, Shao-Hsuan; Wang, Huei-Shyong; Lyu, Rong-Kuo; Chou, Min-Liang; Hung, Po-Cheng; Hsieh, Meng-Ying; Lin, Kuang-Lin

    2012-08-01

    Guillain-Barré syndrome is characterized by acute progressive weakness, areflexia, and maximal motor disability that occur within 4 weeks of onset. Various clinical subtypes have been described since the original description of the syndrome. This study aimed to identify characteristics of clinical variants of Guillain-Barré syndrome through retrospective review of cases in Chang Gung Children's Hospital from 2000-2010. Forty-three Guillain-Barré syndrome patients were evaluated based on clinical presentations and an electrodiagnostic study. The most frequent variant of Guillain-Barré syndrome was demyelinating polyneuropathy (67.4%), followed by acute axonal neuropathy (7.0%), Miller Fisher syndrome (7.0%), Bickerstaff brainstem encephalitis (7.0%), pharyngo-cervical-brachial variant (4.7%), and polyneuritis cranialis (4.7%). Follow-up revealed that 35 recovered satisfactorily, eight were persistently disabled, and none died during hospitalization. At the earliest stage, differentiating clinical variants from typical Guillain-Barré syndrome was difficult. Children with clinical variants of Guillain-Barré syndrome are more likely to manifest rapid onset from disease onset to nadir, increasing the severity of disability, cranial nerve involvement, urine incontinence, respiratory impairment, and need for ventilator support than in typical Guillain-Barré syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. Irritable bowel syndrome: a clinical review.

    PubMed

    Soares, Rosa L S

    2014-09-14

    Irritable bowel syndrome (IBS) remains a clinical challenge in the 21(st) century. It's the most commonly diagnosed gastrointestinal condition and also the most common reason for referral to gastroenterology clinics. Its can affect up to one in five people at some point in their lives, and has a significantly impact of life quality and health care utilization. The prevalence varies according to country and criteria used to define IBS. Various mechanisms and theories have been proposed about its etiology, but the biopsychosocial model is the most currently accepted for IBS. The complex of symptoms would be the result of the interaction between psychological, behavioral, psychosocial and environmental factors. The diagnosis of IBS is not confirmed by a specific test or structural abnormality. It is made using criteria based on clinical symptoms such as Rome criteria, unless the symptoms are thought to be atypical. Today the Rome Criteria III is the current gold-standard for the diagnoses of IBS. Secure positive evidence of IBS by means of specific disease marker is currently not possible and cannot be currently recommended for routine diagnosis. There is still no clinical evidence to recommend the use of biomarkers in blood to diagnose IBS. However, a number of different changes in IBS patients were demonstrated in recent years, some of which can be used in the future as a diagnostic support. IBS has no definitive treatment but could be controlled by non-pharmacologic management eliminating of some exacerbating factors such certain drugs, stressor conditions and changes in dietary habits.The traditional pharmacologic management of IBS has been symptom based and several drugs have been used. However, the cornerstone of its therapy is a solid patient physician relationship. This review will provide a summary of pathophysiology, diagnostic criteria and current and emerging therapies for IBS.

  15. Irritable bowel syndrome: A clinical review

    PubMed Central

    Soares, Rosa LS

    2014-01-01

    Irritable bowel syndrome (IBS) remains a clinical challenge in the 21st century. It’s the most commonly diagnosed gastrointestinal condition and also the most common reason for referral to gastroenterology clinics. Its can affect up to one in five people at some point in their lives, and has a significantly impact of life quality and health care utilization. The prevalence varies according to country and criteria used to define IBS. Various mechanisms and theories have been proposed about its etiology, but the biopsychosocial model is the most currently accepted for IBS. The complex of symptoms would be the result of the interaction between psychological, behavioral, psychosocial and environmental factors. The diagnosis of IBS is not confirmed by a specific test or structural abnormality. It is made using criteria based on clinical symptoms such as Rome criteria, unless the symptoms are thought to be atypical. Today the Rome Criteria III is the current gold-standard for the diagnoses of IBS. Secure positive evidence of IBS by means of specific disease marker is currently not possible and cannot be currently recommended for routine diagnosis. There is still no clinical evidence to recommend the use of biomarkers in blood to diagnose IBS. However, a number of different changes in IBS patients were demonstrated in recent years, some of which can be used in the future as a diagnostic support. IBS has no definitive treatment but could be controlled by non-pharmacologic management eliminating of some exacerbating factors such certain drugs, stressor conditions and changes in dietary habits.The traditional pharmacologic management of IBS has been symptom based and several drugs have been used. However, the cornerstone of its therapy is a solid patient physician relationship. This review will provide a summary of pathophysiology, diagnostic criteria and current and emerging therapies for IBS. PMID:25232249

  16. Clinical Characteristics of Fuchs’ Uveitis Syndrome

    PubMed Central

    Nalçacıoğlu, Pınar; Çakar Özdal, Pınar; Şimşek, Mert

    2016-01-01

    Objectives: To evaluate the clinical and demographic properties of Fuchs’ uveitis syndrome (FUS) in Turkish patients. Materials and Methods: The medical records of 161 patients with FUS followed in the Uveitis Division of Ulucanlar Eye Hospital between 1996 and 2014 were respectively reviewed. The mean age at diagnosis, sex, the number of affected eyes, follow-up period, clinical findings at presentation, complications during the follow-up period, medical and surgical treatments, and best corrected visual acuity at the initial and final visits were recorded. Results: The study included 171 eyes of 161 patients diagnosed with FUS. Of the patients, 94 (58.4%) were female and 67 (41.6%) were male. The mean age at presentation was 35.2±11.0 (11-65) years. The mean follow-up period was 23.5±32.8 (2-216) months. Ten (6.2%) patients had bilateral involvement. The most common symptoms at presentation were decreased visual acuity or blurred vision in 63 (39.1%) and floaters in 19 (11.8%) patients. Clinical findings at presentation included diffuse small, round, white keratic precipitates in 128 (74.8%) eyes, anterior chamber reaction in 82 (47.9%), vitreous cells in 122 (71.3%), heterochromia in 47 (27.4%) and iris nodules in 32 (18.7%) eyes. During the follow-up period, elevated intraocular pressure occured in 31 (18.1%) eyes and the most common complication was cataract development (89 eyes, 52.0%). Conclusion: Heterochromia was observed in 27.4% of patients in our study. However, the diffuse small, round keratic precipitates, low-grade anterior chamber reaction and varying degrees of vitreous reaction are more common clinical characteristics that are helpful in making the diagnosis. PMID:27800260

  17. Venous compression syndromes: clinical features, imaging findings and management

    PubMed Central

    Liu, R; Oliveira, G R; Ganguli, S; Kalva, S

    2013-01-01

    Extrinsic venous compression is caused by compression of the veins in tight anatomic spaces by adjacent structures, and is seen in a number of locations. Venous compression syndromes, including Paget–Schroetter syndrome, Nutcracker syndrome, May–Thurner syndrome and popliteal venous compression will be discussed. These syndromes are usually seen in young, otherwise healthy individuals, and can lead to significant overall morbidity. Aside from clinical findings and physical examination, diagnosis can be made with ultrasound, CT, or MR conventional venography. Symptoms and haemodynamic significance of the compression determine the ideal treatment method. PMID:23908347

  18. Clinical genetic testing of periodic fever syndromes.

    PubMed

    Marcuzzi, Annalisa; Piscianz, Elisa; Kleiner, Giulio; Tommasini, Alberto; Severini, Giovanni Maria; Monasta, Lorenzo; Crovella, Sergio

    2013-01-01

    Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

  19. Clinical Genetic Testing of Periodic Fever Syndromes

    PubMed Central

    Marcuzzi, Annalisa; Piscianz, Elisa; Kleiner, Giulio; Tommasini, Alberto; Severini, Giovanni Maria; Monasta, Lorenzo; Crovella, Sergio

    2013-01-01

    Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions. PMID:23484126

  20. Nail apparatus melanoma initially diagnosed as nail matrix blue nevus: a case report with dermatoscopy and dermatopathology

    PubMed Central

    Akay, Bengu Nisa; Heper, Aylin Okcu; Thomas, Luc; Balme, Brigitte; Clark, Simon; Rosendahl, Cliff

    2017-01-01

    We present a case of nail apparatus melanoma in a 50-year-old woman presenting as new and changing longitudinal melanonychia of the right thumb. Very heavy melanin pigmentation involving both the epidermis and dermis interfered with dermatopathological assessment, which initially leads to a diagnosis of nail matrix blue nevus. After consultation with a specialist multidisciplinary clinic the diagnosis was revised to invasive melanoma, a diagnosis consistent with the clinical and dermatoscopic assessment. PMID:28243499

  1. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report.

    PubMed

    Kulkarni, Gayithri Harish; Khaji, Shahanavaj I; Metkari, Suryakant; Kulkarni, Harish S; Kulkarni, Reshma

    2014-07-01

    Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

  2. [Asperger syndrome: evolution of the concept and current clinical data].

    PubMed

    Aussilloux, C; Baghdadli, A

    2008-05-01

    Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.

  3. Nevus anemicus: a distinctive cutaneous finding in neurofibromatosis type 1.

    PubMed

    Hernández-Martín, Angela; García-Martínez, Francisco Javier; Duat, Anna; López-Martín, Inmaculada; Noguera-Morel, Lucero; Torrelo, Antonio

    2015-01-01

    Nevus anemicus (NA) is a cutaneous anomaly characterized by pale, well-defined patches with limited vascularization after rubbing. They are largely known to be associated with neurofibromatosis 1 (NF1) and have received little attention in the literature until recently. We sought to characterize the prevalence and clinical features of patients with NA and NF1. We conducted an observational prospective study of 99 children with NF1 at the Hospital Niño Jesús, Madrid, Spain, from January 1, 2012, through July 31, 2013, and reviewed three other series of patients with NF1 and NA recently reported. The prevalence of NA in children with NF1 ranged from 8.8% to 51%, being much more prevalent at younger ages. Prospective studies yielded a higher prevalence than retrospective studies. NA was located most commonly on the trunk, particularly on the anterior chest wall, and was often multiple. Patients with segmental NF1 or isolated café au lait spots rarely had NA, and NA was absent in other genodermatoses. The collection of data was not homogeneous in all studies. NA has a high prevalence in individuals with NF1 patients but seems to be absent in connection with other genodermatoses, therefore its presence can assist in the diagnosis of suspected cases of NF1. The subtle clinical appearance of NA makes its detection difficult, and physicians involved in the care of children with NF1 must be aware of its possible presence and significance. © 2015 Wiley Periodicals, Inc.

  4. Clinical and behavioral characteristics in FG syndrome.

    PubMed

    Graham, J M; Superneau, D; Rogers, R C; Corning, K; Schwartz, C E; Dykens, E M

    1999-08-27

    FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths

  5. [DRESS syndrome in paediatrics: Clinical case].

    PubMed

    Silva-Feistner, Marcos; Ortiz, Elena; Rojas-Lechuga, María Jesús; Muñoz, Daniel

    2017-02-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, potentially life-threatening, drug-induced hypersensitivity reaction that includes skin eruption, haematological abnormalities, lymphadenopathy, and internal organ involvement. Presenting a rare condition in children, to facilitate a rapid diagnostic suspicion and recognition by doctors. An 9 months old infant admitted due to a severe viral pneumonia, managed with non-invasive ventilation and ceftriaxone. Five days after stopping antibiotics, a confluent maculopapular rash appeared, which was predominantly in the trunk, face and upper extremities, combined with a fever, eosinophilia, and elevated serum levels of transaminase. She received treatment with oral prednisone and topical corticosteroids for 6 weeks, with a good outcome after 3 months. The diagnosis of DRESS syndrome is made using clinical criteria, laboratory values, and histopathology, if there is any query. Although it is classically caused by anticonvulsants and sulphonamides, many other drugs have been implicated. The offending drug should be immediately discontinued and the patient given supportive treatment, and systemic corticosteroids for long periods of treatment.

  6. [DRESS syndrome in paediatrics. Clinical case].

    PubMed

    Silva-Feistner, Marcos; Ortiz, Elena; Rojas-Lechuga, María Jesús; Muñoz, Daniel

    2016-07-01

    Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, potentially life-threatening, drug-induced hypersensitivity reaction that includes skin eruption, haematological abnormalities, lymphadenopathy, and internal organ involvement. Presenting a rare condition in children, to facilitate a rapid diagnostic suspicion and recognition by doctors CASE REPORT: An 9 months old infant admitted due to a severe viral pneumonia, managed with non-invasive ventilation and ceftriaxone. Five days after stopping antibiotics, a confluent maculopapular rash appeared, which was predominantly in the trunk, face and upper extremities, combined with a fever, eosinophilia, and elevated serum levels of transaminase. She received treatment with oral prednisone and topical corticosteroids for 6 weeks, with a good outcome after 3 months. The diagnosis of DRESS syndrome is made using clinical criteria, laboratory values, and histopathology, if there is any query. Although it is classically caused by anticonvulsants and sulphonamides, many other drugs have been implicated. The offending drug should be immediately discontinued and the patient given supportive treatment, and systemic corticosteroids for long periods of treatment. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Costeff syndrome: clinical features and natural history.

    PubMed

    Yahalom, Gilad; Anikster, Yair; Huna-Baron, Ruth; Hoffmann, Chen; Blumkin, Lubov; Lev, Dorit; Tsabari, Rakefet; Nitsan, Zeev; Lerman, Sheera F; Ben-Zeev, Bruria; Pode-Shakked, Ben; Sofer, Shira; Schweiger, Avraham; Lerman-Sagie, Tally; Hassin-Baer, Sharon

    2014-12-01

    Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. All patients were examined by a neurologist and signs and symptoms were rated. 28 patients with CS (16 males, 21 families, age at last observation 28.6 ± 16.1 years, range 0.5-68 years) were included. First signs of neurological deficit appeared in infancy or early childhood, with delayed motor milestones, choreiform movements, ataxia and visual disturbances. Ataxia and chorea were the dominant motor features in childhood, but varied in severity among patients and did not seem to worsen with age. Pyramidal dysfunction appeared later and progressed with age (r = 0.71, p < 0.001) leading to spastic paraparesis and marked gait impairment. The course of neurological deterioration was slow and the majority of patients could still walk beyond the fifth decade. While visual acuity seemed to deteriorate, it did not correlate with age. CS is a rare neurogenetic disorder that causes serious disability and worsens with age. Spasticity significantly increases over the years and is the most crucial determinant of neurological dysfunction.

  8. Smith-Magenis Syndrome: Genetic Basis and Clinical Implications

    ERIC Educational Resources Information Center

    Finucane, Brenda; Haas-Givler, Barbara

    2009-01-01

    Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

  9. Smith-Magenis Syndrome: Genetic Basis and Clinical Implications

    ERIC Educational Resources Information Center

    Finucane, Brenda; Haas-Givler, Barbara

    2009-01-01

    Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

  10. Clinical Variant of Ablepharon Macrostomia Syndrome

    PubMed Central

    Larumbe, Jose; Villalta, Patricia; Velez, Ines

    2011-01-01

    Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession. PMID:23198177

  11. Tumor lysis syndrome: A clinical review

    PubMed Central

    Mirrakhimov, Aibek E; Voore, Prakruthi; Khan, Maliha; Ali, Alaa M

    2015-01-01

    Tumor lysis syndrome is an oncometabolic emergency resulting from rapid cell death. Tumor lysis syndrome can occur as a consequence of tumor targeted therapy or spontaneously. Clinicians should stratify every hospitalized cancer patient and especially those receiving chemotherapy for the risk of tumor lysis syndrome. Several aspects of prevention include adequate hydration, use of uric acid lowering therapies, use of phosphate binders and minimization of potassium intake. Patients at high risk for the development of tumor lysis syndrome should be monitored in the intensive care unit. Established tumor lysis syndrome should be treated in the intensive care unit by aggressive hydration, possible use of loop diuretics, possible use of phosphate binders, use of uric acid lowering agents and dialysis in refractory cases. PMID:25938028

  12. Ellis-van Creveld syndrome: A rare clinical entity.

    PubMed

    Kamal, Reet; Dahiya, Parveen; Kaur, Simerpreet; Bhardwaj, Rohit; Chaudhary, Karun

    2013-01-01

    Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.

  13. Ellis-van Creveld syndrome: A rare clinical entity

    PubMed Central

    Kamal, Reet; Dahiya, Parveen; Kaur, Simerpreet; Bhardwaj, Rohit; Chaudhary, Karun

    2013-01-01

    Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature. PMID:23798848

  14. Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakomatoses?

    PubMed

    Boncoraglio, Giorgio B; Parati, Eugenio A; Ciceri, Elisa; Rinaldi, Rosa; Capella, Giovanni L

    2010-12-01

    Phakomatosis refers to several malformation syndromes with simultaneous involvement of the skin, the eye, and the central nervous system by developmental lesions. Speckled lentiginous nevus (SLN), a subtype of congenital melanocytic nevi, is usually an isolate, harmless finding. Here, we report the case of a 52-year-old woman with congenital left laterocervical SLN associated with an ipsilateral intracranial extra-axial cavernous angioma, a yet not described association to date. After revision of the literature, we suggest that both these lesions could be correlated in the setting of an atypical, yet unclassifiable form of phakomatosis, such as phakomatosis pigmentovascularis or SLN syndrome. We also propose that patients with bizarre, geometrical, pigmented or vascular cervicocranial skin lesions should undergo a thorough neurologic and ophthalmologic evaluation.

  15. Internal derangements of the temporomandibular joint: description of clinical syndromes.

    PubMed

    Schwartz, H C; Kendrick, R W

    1984-07-01

    Clinical findings and diagnostic criteria for internal derangements of the temporomandibular joint are outlined. Pathophysiology is discussed, including the role of predisposing factors and the relationship with myofascial pain-dysfunction syndrome.

  16. Coccygeal polypoid eccrine nevus associated with imperforate anus and unilateral multicystic kidney dysplasia.

    PubMed

    Frouin, Eric; Riviere, Benjamin; Maillet, Olivier; Willems, Marjolaine; Kalfa, Nicolas; Costes, Valerie; Bessis, Didier

    2016-08-01

    Eccrine nevi are rare hamartomas characterized by an increase in the number or size of eccrine glands. A polypoid form located in the coccygeal area has been described in a few cases and termed coccygeal polypoid eccrine nevus (CPEN). No association with internal malformations was reported in any of these cases. We describe herein a case of CPEN associated with imperforate anus and unilateral multicystic kidney dysplasia. We review the clinical and pathological characteristics of CPENs and discuss the differential diagnoses. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Accuracy in the clinical diagnosis of parkinsonian syndromes.

    PubMed Central

    Gibb, W. R.

    1988-01-01

    This review of Parkinson's disease and related disorders emphasizes the difficulties of distinguishing between variants of the parkinsonian syndrome. Characteristic clinical features may remain absent for many months, but accuracy of diagnosis may be improved by considering certain presenting symptoms and signs. The main characteristics of various parkinsonian syndromes are reviewed and their major distinguishing features are emphasized. Future improvement in the precision of clinical diagnosis, especially early in the course of parkinsonian syndromes, will depend on selecting out patients with Parkinson's disease using positive diagnostic criteria. PMID:3059338

  18. Pigmented oral compound nevus of retromolar area - A rare case report.

    PubMed

    Gombra, Virender; Kaur, Mandeep; Sircar, Keya; Popli, Deepika Bablani

    2016-12-01

    Solitary pigmented melanocytic intraoral lesions of the oral cavity are rare. Oral nevus is a congenital or acquired benign neoplasm. Oral compound nevus constitutes 5.9%-16.5% of all oral melanocytic nevi. The oral compound nevus is commonly seen on hard palate and buccal mucosa and rarely on other intraoral sites. The objective of this article is to present a rare case report of oral compound nevus in the retromolar pad region along with a review of literature. A 22 year old female reported with a solitary black pigmented papule at retromolar pad region which was surgically removed and microscopic investigation confirmed the diagnosis of oral compound nevus.

  19. [Paraneoplastic syndromes: pathogenetic theories, clinical aspects and therapeutic approach].

    PubMed

    Ngonga, Gaelle Flore Ketchandja; Ferrari, Daniela; Lorusso, Lorenzo; Gasparetto, Chiara; Neznama, Eva; D'Abramo, Manuela; Ricevuti, Giovanni

    2005-01-01

    Paraneoplastic syndromes are uncommon diseases with different pathogenesis and clinical manifestations, correlated with neoplasms but not due to the tumor, metastasis or other distant effects. The aim of the present article is to describe the main paraneoplastic syndromes (neurological, endocrine-metabolic, rheumatological, osteo-articular, dermatological, hematological, vascular and nephrological), the associated pathogenetic theories (theory of the common embryonal sketches, theory of reactivation of the information and autoimmune theory) and the most important therapeutic approaches, on the basis of the literature. Experimental works, reviews and clinical observations, in some cases still in progress, regarding the described syndromes, their pathogenesis and their therapeutic approach have been examined. No meta-analyses regarding paraneoplastic syndromes have been published in the literature. The better described pathogenesis is the autoimmune one, characteristic of neurological, nephrologic and some dermatologic syndromes, for which the clinical and laboratory findings have been well supported. The pathogenetic theories associated with the other syndromes have been correlated on the basis of the literature. Paraneoplastic syndromes are important because their identification permits an early diagnosis of tumors and rapid treatment, with a largely improved prognosis and life expectancy for the patient. They often represent the only signal of a silent neoplasm; sometimes they precede the tumor itself. More studies are necessary for a better definition of their clinical aspects and pathogenesis and to delineate standard guidelines for a diagnostic-therapeutic approach to these diseases.

  20. Clinical Audit of Gastrointestinal Conditions Occurring among Adults with Down Syndrome Attending a Specialist Clinic

    ERIC Educational Resources Information Center

    Wallace, Robyn A.

    2007-01-01

    Background: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. Method: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. Results: From January 2003 to March 2005, 57 patients attended the clinic,…

  1. Clinical Audit of Gastrointestinal Conditions Occurring among Adults with Down Syndrome Attending a Specialist Clinic

    ERIC Educational Resources Information Center

    Wallace, Robyn A.

    2007-01-01

    Background: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. Method: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. Results: From January 2003 to March 2005, 57 patients attended the clinic,…

  2. Clinical Syndromes among the Learning Disabled.

    ERIC Educational Resources Information Center

    Lewandowski, Lawrence J.

    1985-01-01

    Four physiological conditions associated with later learning disabilities are noted: Turner Syndrome (a chromosomal abnormality), preterm children with intracranial hemorrhage, children with incompletely developed connecting fibers between the cerebral hemispheres, and children with acquired brain injury. (CL)

  3. Clinical Syndromes among the Learning Disabled.

    ERIC Educational Resources Information Center

    Lewandowski, Lawrence J.

    1985-01-01

    Four physiological conditions associated with later learning disabilities are noted: Turner Syndrome (a chromosomal abnormality), preterm children with intracranial hemorrhage, children with incompletely developed connecting fibers between the cerebral hemispheres, and children with acquired brain injury. (CL)

  4. [Schimmelpenning-Feuerstein-Mims syndrome: a case report].

    PubMed

    Bahloul, E; Abid, I; Masmoudi, A; Makni, S; Kamoun, F; Boudawara, T; Triki, C; Turki, H

    2015-11-01

    Schimmelpenning-Feuerstein-Mims syndrome (SFM) is a congenital neurocutaneous disorder characterized by the association of nevus sebaceous with extracutaneous abnormalities. We report a new case of Schimmelpenning-Feuerstein-Mims with aortic coarctation and drug-resistant West syndrome. This case emphasizes the importance of exploring and monitoring patients with nevus sebaceous in order to diagnose associated anomalies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  5. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

    PubMed

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cavé, Hélène; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C M; Wilson, Louise C; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yoichi

    2007-04-15

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. The purpose of this study was to perform comprehensive mutation analysis in 56 patients with CFC syndrome and to investigate genotype-phenotype correlation. We analyzed KRAS, BRAF, and MAP2K1/2 (MEK1/2) in 13 new CFC patients and identified five BRAF and one MAP2K1 mutations in nine patients. We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. No mutations were identified in MAPK3/1 (ERK1/2) in 21 patients without any mutations. In total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2). No significant differences in clinical manifestations were found among 3 KRAS-positive patients, 16 BRAF-positive patients, and 6 MAP2K1/2-positive patients. Wrinkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30-40% of the mutation-positive CFC patients, suggesting a significant clinical overlap between these two syndromes. Copyright 2007 Wiley-Liss, Inc.

  6. Schnitzler syndrome: an under-diagnosed clinical entity

    PubMed Central

    Jain, Tania; Offord, Chetan P.; Kyle, Robert A.; Dingli, David

    2013-01-01

    Schnitzler syndrome is considered to be a rare disorder characterized by a monoclonal IgM protein and chronic urticaria that is associated with considerable morbidity. We hypothesized that the syndrome may be under-recognized and patients may be deprived of highly effective therapy in the form of anakinra. We performed a retrospective search of the dysproteinemia database at Mayo Clinic as well as the medical records of all patients with chronic urticaria to determine the true incidence of the disease. We compared patients with the diagnosis of Schnitzler syndrome and those who met the criteria but in whom the syndrome was not recognized. Comparisons between groups were performed and survival curves determined. We identified 16 patients with diagnosed Schnitzler syndrome and an additional 46 patients who met diagnostic criteria. The monoclonal protein was IgMκ in 94% of patients. Therapy with anakinra in 4 patients led to rapid and complete resolution of symptoms. The median overall survival for this syndrome is over 12.8 years. Progression to lymphoma was only observed in 8% of patients; this is lower than previous reports. Schnitzler syndrome may be present in up to 1.5% of patients with a monoclonal IgM in their serum and likely under-recognized as a clinical syndrome. PMID:23812931

  7. [Clinical studies of pediatric malabsorption syndromes].

    PubMed

    Hosoyamada, Takashi

    2006-11-01

    Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the treatments were undertaken. The cases studied, included one patient with cystic fibrosis, two with lactose intolerance with lactosuria (Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. Each case description and outcome is described below: 1. A 15-year-old Japanese boy with cystic fibrosis presented with severe symptoms, including pancreatic insufficiency, bronchiectasis, pneumothorax and hemoptysis. His prognosis was poor. Analysis of the CFTR genes of this patient revealed a homozygous large deletion from intron 16 to 17b. 2. In the sibling case of Durand type lactose intolerance, the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both. These observations suggested, not only an abnormal gastric condition, but also duodenal and intestinal mucosal abnormal permeability of lactose. 3. In the case of primary intestinal lymphangiectasia, the subject had a lymphedematous right arm and hand, a grossly coarsened mucosal pattern of the upper gastrointestinal tract (identified via radiologic examination) and the presence of lymphangiectasia (confirmed via duodenal mucosal biopsy). The major laboratory findings were hypoalbuminemia, decreased immunoglobulin levels and lymphopenia resulting from loss of lymph fluid and protein into the gastro

  8. The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

    PubMed

    Kojovic, Maja; Pareés, Isabel; Lampreia, Tania; Pienczk-Reclawowicz, Karolina; Xiromerisiou, Georgia; Rubio-Agusti, Ignacio; Kramberger, Milica; Carecchio, Miryam; Alazami, Anas M; Brancati, Francesco; Slawek, Jaroslaw; Pirtosek, Zvezdan; Valente, Enza Maria; Alkuraya, Fowzan S; Edwards, Mark J; Bhatia, Kailash P

    2013-06-01

    The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions.

  9. Molecular analysis of a case of nevus of ota showing progressive evolution to melanoma with intermediate stages resembling cellular blue nevus.

    PubMed

    Gerami, Pedram; Pouryazdanparast, Pedram; Vemula, Swapna; Bastian, Boris C

    2010-05-01

    Nevus of Ota is a variant of congenital nevus, which is morphologically paucicellular and resembles a common blue nevus. Although nevus of Ota is a risk factor for uveal melanoma in white people, the development of cutaneous melanoma within nevus of Ota is a very rare occurrence with only a few reported cases. We present a case of a long-standing nevus of Ota, with radiologic imaging demonstrating a large retro-orbital mass and a biopsy showing melanoma. The histopathology of the eye exenteration specimen illustrated various stages of melanocytic progression including areas resembling a nevus of Ota, blue nevus, cellular blue nevus, and melanoma. There was heterogeneity in the overtly malignant sections with some areas displaying expansile nodules of blander appearing spindled cells, whereas other areas were composed of epithelioid cells with higher mitotic counts and zones of necrosis. The extensive lesion also infiltrated the soft tissue and bone. We performed gene mutation analysis for GNAQ, BRAF, NRAS, and KIT and fluorescence in situ hybridization (FISH) targeting commonly altered chromosomal loci in melanoma and comparative genomic hybridization (CGH). Copy number changes typical of melanoma were identified by both FISH and CGH in the morphologically malignant areas illustrating the relationship of tumor progression and the progressive acquisition of genetic aberrations.

  10. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

    PubMed

    Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen

    2013-12-01

    Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve.

  11. An oral clinical approach to Gorlin-Goltz syndrome.

    PubMed

    Abreu, Lucas Guimaraes; Paiva, Saul Martins; Pretti, Henrique; Bastos Lages, Elizabeth Maria; Castro, Wagner Henriques

    2015-01-01

    Gorlin-Goltz syndrome is a rare hereditary disease that can have negative effects on one's quality of life. The main clinical features are multiple nevoid basal cell carcinomas, odontogenic keratocysts, congenital skeletal abnormalities, calcification of the falx cerebri, facial dysmorphism, and skin depressions (pits) on the palms and soles. Diagnosis is based on major and minor clinical and radiological criteria and can be confirmed by DNA analysis. This article describes the case of a child with Gorlin-Goltz syndrome and outlines the clinical manifestations of the disease.

  12. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    ERIC Educational Resources Information Center

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  13. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    ERIC Educational Resources Information Center

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  14. A split-face comparison of Q-switched Nd:YAG 1064-nm laser for facial rejuvenation in Nevus of Ota patients.

    PubMed

    Yongqian, Cao; Li, Lin; Jianhai, Bi; Ran, Huo; Li, Guo; Hao, Wei; Xining, Wang; Shigang, Xie; Yibing, Wang

    2017-05-01

    We aimed to investigate the efficacy and safety of using the 1064-nm Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser (QSNYL) for skin rejuvenation in patients with Nevus of Ota. A retrospective, randomized, split-faced, clinical study was conducted. Twenty-nine patients with unilateral moderate to severe Nevus of Ota were enrolled. The participants completed 3-13 sessions of QSNYL treatments 3-6 months apart. Two independent physicians compared the treated and untreated sides of the face to evaluate the clearance of Nevus of Ota, the wrinkle severity rating scale (WSRS), the global aesthetic improvement scale (GAIS), and adverse event reporting. Patients' satisfaction levels were also considered. Of the 29 patients, 28 (96.6%) achieved nearly complete pigmentation clearance. After an average of 7.76 ± 2.99 sessions, statistically significant improvement in wrinkles and skin texture were observed, compared with the untreated side. The degree of skin rejuvenation was positively correlated with the number of treatment sessions. No clinically adverse effects were observed. Repeated QSNYL treatments not only remove the pigment in Nevus of Ota effectively and safely but also improve facial rejuvenation.

  15. Adenocarcinoma of the lung in Down syndrome: first clinical report.

    PubMed

    Satgé, Daniel; Salmeron, Sergio; Homsi, Toufik; Réthoré, Marie-Odile; Tredaniel, Jean

    2013-01-01

    Lung cancer is rare in persons with Down syndrome, and the clinical presentation of the disease has not been described in adults with intellectual disability. We report the first detailed clinical observation of a 33-year-old man with Down syndrome who developed an adenocarcinoma of the lung 30 years after an acute lymphoblastic leukemia in infancy. Despite advanced disease at initial presentation and extensive tumor spreading during the course of the disease, he presented with unusually mild symptoms. The scarcity of lung cancer in people with intellectual disability, and particularly those with Down syndrome, is due, in part, to reduced tobacco use. However, cytogenetic and molecular studies suggest that genes mapping to chromosome 21 may protect against lung cancer. Numerous reports also suggest that, in persons with Down syndrome and other intellectual disability, cancers are often discovered late, leading to loss of the chance of cure and recovery.

  16. [Impingement syndrome of the shoulder. Clinical data and radiologic findings].

    PubMed

    Masala, S; Fanucci, E; Maiotti, M; Nardocci, M; Gaudioso, C; Apruzzese, A; Di Mario, M; Simonetti, G

    1995-01-01

    Subcoracoid impingement syndrome pain is elicited by some positions of the upper limbs, i.e., adduction and inward rotation, whenever coracohumeral space reduces. Although acquired or congenital malformations of the humeral head and/or coracoid apophysis are the most common causes of painful syndromes, repeated flections and inward rotations of the upper limbs, typical of some sports, such as swimming and tennis, and of some sports, such as swimming and tennis, and of some kinds of work, are predisposing factors. The subcoracoid impingement syndrome exhibits on pathogenomonic signs at clinics and the specificity of diagnostic methods is low, which calls for reliable radiologic assessment of this condition. Fifteen patients with subcoracoid impingement syndrome underwent X-ray, US, CT and MR studies. Plain radiography detected no specific signs of this syndrome, but yielded useful information regarding other painful syndromes of the shoulder, such as anatomical variants of the acromion and degenerative changes. US yield was poor because of the acoustic window of the coracoid apophysis, but supraspinatus tendon changes were demonstrated in 2 cases. CT and MRI proved to be the most reliable and accurate diagnostic methods, the former thanks to its sensitivity to even slight bone changes and to its capabilities in measuring coracohumeral distance and acquiring dynamic scans and the latter because it detects tendon, bursa and rotator cuff changes. To conclude, in our opinion, when the subcoracoid impingement syndrome is clinically suspected, plain X-ray films should be performed first and followed by MR scans.

  17. Early onset marfan syndrome: Atypical clinical presentation of two cases

    PubMed Central

    Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

    2015-01-01

    Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

  18. Clinical management of the uraemic syndrome in chronic kidney disease.

    PubMed

    Vanholder, Raymond; Fouque, Denis; Glorieux, Griet; Heine, Gunnar H; Kanbay, Mehmet; Mallamaci, Francesca; Massy, Ziad A; Ortiz, Alberto; Rossignol, Patrick; Wiecek, Andrzej; Zoccali, Carmine; London, Gérard Michel

    2016-04-01

    The clinical picture of the uraemic syndrome is a complex amalgam of accelerated ageing and organ dysfunction, which progress in parallel to chronic kidney disease. The uraemic syndrome is associated with cardiovascular disease, metabolic bone disease, inflammation, protein energy wasting, intestinal dysbiosis, anaemia, and neurological and endocrine dysfunction. In this Review, we summarise specific, modern management options for the uraemic syndrome in chronic kidney disease. Although large randomised controlled trials are scarce, based on data from randomised controlled trials and observational studies, as well as pathophysiological reasoning, a therapeutic algorithm can be developed for this complex and multifactorial condition, with interventions targeting several modifiable factors simultaneously.

  19. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

    PubMed

    Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Wertheim-Tysarowska, Katarzyna; Giza, Aleksandra; Mordasewicz-Goliszewska, Maria; Bal, Jerzy; Obersztyn, Ewa

    2015-08-01

    Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification.

  20. Epileptic syndromes: From clinic to genetic

    PubMed Central

    Tafakhori, Abbas; Aghamollaii, Vajiheh; Faghihi-Kashani, Sara; Sarraf, Payam; Habibi, Laleh

    2015-01-01

    Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management. PMID:25874049

  1. Clinical and radiological characteristics of SAPHO syndrome.

    PubMed

    Colina, Matteo; Trotta, Francesco

    2013-01-01

    The peculiar bone involvement, represented by osteitis, is the common denominator of SAPHO syndrome. Hyperostosis and osteitis are chronic inflammatory reactions involving the cortical and trabecular bone respectively; both are characterised by increased sclerosis. Hyperostosis appears radiologically as chronic endosteal and periosteal thickening with narrowing of the medullary canal, but areas of ostelysis may also be present. Conversely, osteitis appears as increased osteosclerosis involving the trabecular infrastructure of cancellous bone. The occurrence of hyperostosis with little or no osteitis is not uncommon. SAPHO syndrome may have a prolonged course with phases of reacutization and remission; the long-term prognosis is usually fairly good, but sometimes a disabling course may occur. Our experience demonstrated that the majority of patients suffering from SAPHO syndrome experienced a chronic course, requiring continous treatment, whilst in a third of the cases the patients reported multiple remission and exacerbations of the disease with flares lasting till to 8 months. Only in a minority of cases the bone inflammation faded and never recurred. Female sex, peripheral arthritis, ACW involvement, the coexistence of more than one cutaneous symptoms, and high inflammatory indices are correlated with a chronic disease course and involvement of new osteoarticular sites.

  2. Sleep apnea syndrome in endocrine clinics.

    PubMed

    Ceccato, F; Bernkopf, E; Scaroni, C

    2015-08-01

    Obstructive sleep apnea syndrome (OSAS) is a chronic condition with a high prevalence (up to 7 % of the general population) characterized by frequent episodes of upper airway collapse while sleeping. Left untreated, OSAS can cause severe complications, including systemic hypertension, cardiovascular disease, stroke, and abnormal glucose metabolism. This review aims to summarize the close links between OSAS, endocrinology, and metabolism. In patients with metabolic syndrome, OSAS is an independent risk factor for the onset of type 2 diabetes and a worsening glycemic control. The accumulation of adipose tissue in the neck and limited chest wall dynamics, hypoxia, and local micro-inflammation link visceral obesity closely with OSAS. There is now an abundance of convincing data indicating that promoting lifestyle changes, improving sleep hygiene, and adjusting diet can ameliorate both metabolic syndrome and OSAS, especially in obese patients. The incidence of OSAS in acromegaly is high, though GH treatments seem to be unrelated to the onset of apnea in GH-deficient individuals. Prospective studies have suggested an association between hypertension and OSAS because intermittent nocturnal hypoxia prompts an increase in sympathetic tone, endothelial dysfunction, and vascular inflammation: aldosterone excess may have a pathophysiological role, and some authors have reported that treating OSAS leads to a modest, but significant, reduction in blood pressure.

  3. Rectal Blue Nevus: Distinguishing Features of a Rare Entity

    PubMed Central

    Mohan, Neena; McCue, Peter; Quirk, Daniel

    2016-01-01

    A 26-year-old African American man with a history of depression and tuberculosis presented to the gastroenterology department after several months of rectal pain with bowel movements. Colonoscopy revealed hyperpigmentation in the distal rectum and internal hemorrhoids, which resulted in a diagnosis of blue nevi. This is only the third known description of a blue nevus involving the gastrointestinal mucosa. PMID:28008401

  4. A signet-ring cell melanoma arising from a medium-sized congenital melanocytic nevus in an adult: A case report and literature review.

    PubMed

    Tajima, Shogo; Koda, Kenji

    2015-07-01

    Patients with congenital nevus, especially giant congenital melanocytic nevus (CMN) measuring >20 cm, are known to be at elevated risk of developing melanomas, especially during the first and second decades of life. Melanomas rarely develop in patients with small and medium-sized CMNs, but if they do, they occur during the fourth and fifth decades of life. We present a case of a rapidly enlarging signet-ring cell melanoma (over 3 months) that arose from a medium-sized CMN in a 57-year-old Japanese man. Only 11 other cases of signet-ring cell melanomas at the primary site have been reported. On the basis of morphology alone, it is difficult to diagnose a nodule appearing in a CMN as a signet-ring cell melanoma, because even a benign melanocytic nevus can appear as signet-ring cell morphology. Moreover, a rapidly growing proliferative nodule (PN) more often develops in a CMN than melanoma; PNs may at times exhibit enough atypia to be comparable to melanomas. In our case, loss of p16 expression in the melanoma distinguished it from the nevus cells and was helpful in making the correct diagnosis. Clinical information, such as the patient's age, was also useful in establishing the diagnosis.

  5. Genital melanocytic nevus arising in a background of lichen sclerosus in a 7-year-old female: the diagnostic pitfall with malignant melanoma. A literature review.

    PubMed

    Pinto, Andre; Mclaren, Son H; Poppas, Dix P; Magro, Cynthia M

    2012-12-01

    Genital melanocytic nevus represents a distinct form of melanocytic proliferation, which can exhibit significant atypia, both clinically and histologically. In a background of lichen sclerosus (LS), the histologic changes could be misconstrued as indicative of malignant melanoma. We present herein a case of the atypical genital nevus of childhood complicated by LS, and a review of the literature is performed. Tissue was available for routine light microscopy and immunohistochemical evaluation to assess the expression of soluble adenylyl cyclase. Fluorescent in situ hybridization studies were conducted to assess for abnormalities in Myb1, CCND1, RREB1 and CEP6. The specimen showed an atypical compound melanocytic proliferation arising in a background of LS. The lesion exhibited significant architectural atypia based on the high-density confluent nature of the junctional melanocytic proliferation with epidermal effacement, rare areas of pagetoid ascent, and the heavily pigmented epithelioid quality of the melanocytes. Fluorescent in situ hybridization studies were normal. The soluble adenylyl cyclase antibody preparation demonstrated a benign nevus-like pattern. The lesion was felt to represent an atypical genital melanocytic nevus, which can resemble a partially regressed melanoma in a background of LS. It is very important for the pathologist to be aware of this entity to avoid misdiagnosis.

  6. Clinical acute cholecystitis and the Curtis-Fitz-Hugh syndrome.

    PubMed Central

    Shanahan, D.; Lord, P. H.; Grogono, J.; Wastell, C.

    1988-01-01

    When patients are admitted with clinically diagnosed acute cholecystitis, no cause will be found for their pain in 9-13% (4.5). Our retrospective study shows that women between 15-35 years are most likely to be in this group. Our prospective study of all patients in the 15-35 year age group admitted with clinical 'acute cholecystitis', showed that in 6 out of 7 patients with 'undiagnosed' pain, the Curtis-Fitz-Hugh syndrome was the cause. We suggest that screening for the Curtis-Fitz-Hugh syndrome is performed in all patients with right upper quadrant pain who have a normal ultrasound scan. PMID:3408139

  7. Schmahmann's syndrome - identification of the third cornerstone of clinical ataxiology.

    PubMed

    Manto, Mario; Mariën, Peter

    2015-01-01

    Schmahmann's syndrome represents a novel clinical condition consisting of a constellation of cognitive and affective deficits following cerebellar disease. The complex was first described in 1998 as cerebellar cognitive affective syndrome (CCAS) on the basis of a careful neurological examination, detailed bedside mental state tests, neuropsychological investigations and anatomical neuroimaging of a group of 20 patients with focal cerebellar disorders. The syndrome was characterized by four clusters of symptoms including: (a) impairment of executive functions such as planning, set-shifting, verbal fluency, abstract reasoning and working memory, (b) impaired visuo-spatial cognition, (c) personality changes with blunting of affect or abnormal behaviour, and (d) language deficits including agrammatism, wordfinding disturbances, disruption of language dynamics and dysprosodia. This complex of neurocognitive and behavioural-affective symptoms was ascribed to a functional disruption of the reciprocal pathways that connect the cerebellum with the limbic circuitry and the prefrontal, temporal and parietal association cortices. With the introduction of Schmahmann's syndrome, clinical ataxiology has found its third cornerstone, the two others being the cerebellar motor syndrome (CMS) mainly delineated by the pioneer French and English neurologists of the 19(th) and early 20(th) century, and the vestibulo-cerebellar syndrome (VCS) consisting of ocular instability, deficits of oculomotor movements and ocular misalignment.

  8. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

    PubMed

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Sakurai, Masahiro; Cavé, Hélène; Verloes, Alain; Nishio, Kimio; Ohashi, Hirofumi; Kurosawa, Kenji; Okamoto, Nobuhiko; Kawame, Hiroshi; Mizuno, Seiji; Kondoh, Tatsuro; Addor, Marie-Claude; Coeslier-Dieux, Anne; Vincent-Delorme, Catherine; Tabayashi, Koichi; Aoki, Masashi; Kobayashi, Tomoko; Guliyeva, Afag; Kure, Shigeo; Matsubara, Yoichi

    2008-01-01

    Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients with NS and those in KRAS, BRAF and MAP2K1/2 have been identified in patients with CFC syndrome, establishing a new role of the RAS/MAPK pathway in human development. Recently, mutations in the son of sevenless gene (SOS1) have also been identified in patients with NS. To clarify the clinical spectrum of patients with SOS1 mutations, we analyzed 24 patients with NS, including 3 patients in a three-generation family, and 30 patients with CFC syndrome without PTPN11, KRAS, HRAS, BRAF, and MAP2K1/2 (MEK1/2) mutations. We identified two SOS1 mutations in four NS patients, including three patients in the above-mentioned three-generation family. In the patients with a CFC phenotype, three mutations, including a novel three amino-acid insertion, were identified in one CFC patient and two patients with both NS and CFC phenotypes. These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome.

  9. Automatic differentiation of melanoma and clark nevus skin lesions

    NASA Astrophysics Data System (ADS)

    LeAnder, R. W.; Kasture, A.; Pandey, A.; Umbaugh, S. E.

    2007-03-01

    Skin cancer is the most common form of cancer in the United States. Although melanoma accounts for just 11% of all types of skin cancer, it is responsible for most of the deaths, claiming more than 7910 lives annually. Melanoma is visually difficult for clinicians to differentiate from Clark nevus lesions which are benign. The application of pattern recognition techniques to these lesions may be useful as an educational tool for teaching physicians to differentiate lesions, as well as for contributing information about the essential optical characteristics that identify them. Purpose: This study sought to find the most effective features to extract from melanoma, melanoma in situ and Clark nevus lesions, and to find the most effective pattern-classification criteria and algorithms for differentiating those lesions, using the Computer Vision and Image Processing Tools (CVIPtools) software package. Methods: Due to changes in ambient lighting during the photographic process, color differences between images can occur. These differences were minimized by capturing dermoscopic images instead of photographic images. Differences in skin color between patients were minimized via image color normalization, by converting original color images to relative-color images. Relative-color images also helped minimize changes in color that occur due to changes in the photographic and digitization processes. Tumors in the relative-color images were segmented and morphologically filtered. Filtered, relative-color, tumor features were then extracted and various pattern-classification schemes were applied. Results: Experimentation resulted in four useful pattern classification methods, the best of which was an overall classification rate of 100% for melanoma and melanoma in situ (grouped) and 60% for Clark nevus. Conclusion: Melanoma and melanoma in situ have feature parameters and feature values that are similar enough to be considered one class of tumor that significantly differs from

  10. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

    PubMed

    Starr, Lois J; Grange, Dorothy K; Delaney, Jeffrey W; Yetman, Anji T; Hammel, James M; Sanmann, Jennifer N; Perry, Deborah A; Schaefer, G Bradley; Olney, Ann Haskins

    2015-12-01

    Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology and abnormal wound healing. Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to surgical intervention is a newly delineated complication that occurred in all patients and contributes to our understanding of the natural history of this disorder. We recommend routine cardiopulmonary surveillance for patients with Myhre syndrome. Surgical intervention should be approached with extreme caution and with as little invasion as possible as the propensity to develop fibrosis/scar tissue is dramatic and can cause significant morbidity and mortality.

  11. Catastrophic antiphospholipid syndrome: a clinical review.

    PubMed

    Nayer, Ali; Ortega, Luis M

    2014-01-01

    Catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening autoimmune disease characterized by disseminated intravascular thrombosis resulting in multiorgan failure. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. CAPS is due to antiphospholipid antibodies directed against a heterogeneous group of proteins that are associated with phospholipids. These autoantibodies activate endothelial cells, platelets, and immune cells, thereby promoting a proinflammatory and prothrombotic phenotype. Furthermore, antiphospholipid antibodies inhibit anticoagulants, impair fibrinolysis, and activate complements. Although CAPS can affect a variety of organs and tissues, the kidneys, lungs, central nervous system, heart, skin, liver, and gastrointestinal tract are most commonly affected. The systemic inflammatory response syndrome, likely to extensive tissue damage, accompanies CAPS. The most frequent renal manifestations are hypertension, proteinuria, hematuria, and acute renal failure.In the majority of patients with CAPS, a precipitating factor such as infection, surgery, or medication can be identified. Antiphospholipid antibodies such as lupus anticoagulant and antibodies against cardiolipin, β2-glycoprotein I, and prothrombin are serological hallmark of CAPS. Laboratory tests often reveal antinuclear antibodies, thrombocytopenia, and anemia. Despite widespread intravascular coagulation, blood films reveal only a small number of schistocytes. In addition, severe thrombocytopenia is uncommon. Histologically, CAPS is characterized by acute thrombotic microangiopathy. CAPS must be distinguished from other forms of thrombotic microangiopathies such as hemolytic-uremic syndrome, thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, and heparin-induced thrombocyt openia. CAPS is associated with high morbidity and mortality. Therefore, an aggressive multidisciplinary

  12. Catastrophic antiphospholipid syndrome: a clinical review

    PubMed Central

    Nayer, Ali; Ortega, Luis M.

    2014-01-01

    Context: Catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening autoimmune disease characterized by disseminated intravascular thrombosis resulting in multiorgan failure. Evidence Acquisitions: Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. Results: CAPS is due to antiphospholipid antibodies directed against a heterogeneous group of proteins that are associated with phospholipids. These autoantibodies activate endothelial cells, platelets, and immune cells, thereby promoting a proinflammatory and prothrombotic phenotype. Furthermore, antiphospholipid antibodies inhibit anticoagulants, impair fibrinolysis, and activate complements. Although CAPS can affect a variety of organs and tissues, the kidneys, lungs, central nervous system, heart, skin, liver, and gastrointestinal tract are most commonly affected. The systemic inflammatory response syndrome, likely to extensive tissue damage, accompanies CAPS. The most frequent renal manifestations are hypertension, proteinuria, hematuria, and acute renal failure.In the majority of patients with CAPS, a precipitating factor such as infection, surgery, or medication can be identified. Antiphospholipid antibodies such as lupus anticoagulant and antibodies against cardiolipin, β2-glycoprotein I, and prothrombin are serological hallmark of CAPS. Laboratory tests often reveal antinuclear antibodies, thrombocytopenia, and anemia. Despite widespread intravascular coagulation, blood films reveal only a small number of schistocytes. In addition, severe thrombocytopenia is uncommon. Conclusions: Histologically, CAPS is characterized by acute thrombotic microangiopathy. CAPS must be distinguished from other forms of thrombotic microangiopathies such as hemolytic-uremic syndrome, thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, and heparin-induced thrombocyt openia. CAPS is associated with high morbidity and

  13. In vivo photoacoustic microscopy of human cutaneous microvasculature and a nevus

    NASA Astrophysics Data System (ADS)

    Favazza, Christopher P.; Jassim, Omar; Cornelius, Lynn A.; Wang, Lihong V.

    2011-01-01

    In several human volunteers, photoacoustic microscopy (PAM) has been utilized for noninvasive cutaneous imaging of the skin microvasculature and a melanocytic nevus. Microvascular networks in both acral and nonacral skin were imaged, and multiple features within the skin have been identified, including the stratum corneum, epidermal-dermal junction, and subpapillary vascular plexus. Several vascular and structural differences between acral and nonacral skin were also observed in the photoacoustic images. In addition, a nevus was photoacoustically imaged, excised, and histologically analyzed. The photoacoustic images allowed for in vivo measurement of tumor thickness, depth, and microvasculature-values confirmed by histologic examination. The presented images demonstrate the potential of PAM to aid in the study and evaluation of cutaneous microcirculation and analysis of pigmented lesions. Through its ability to three-dimensionally image the structure and function of the microvasculature and pigmented lesions, PAM can have a clinical impact in diagnosis and assessment of systemic diseases that affect the microvasculature such as diabetes and cardiovascular disease, cutaneous malignancies such as melanoma, and potentially other skin disorders.

  14. Pregnancy and estrogen receptor β expression in a large congenital nevus

    PubMed Central

    Nading, Mary Alice; Nanney, Lillian B.; Ellis, Darrel L.

    2013-01-01

    Introduction Large congenital nevi carry a slightly increased risk for the development of melanoma. Pregnancy poses an additional challenge in monitoring these patients as little is known regarding the effects of increased estrogen levels on congenital nevi. Observation A young woman was observed to have clinical lightening of her garment nevus and satellite nevi during two sequential pregnancies. Post-partum, the patient experienced darkening and re-pigmentation within her large garment nevus, with continued lightening of nearby satellite lesions. In addition to photographic documentation of these changes, biopsies taken during pregnant and non-pregnant periods were evaluated with immunohistochemistry for estrogen receptor beta (ERβ), the predominant estrogen receptor in nevi and melanomas. Biopsies taken during pregnancy showed a decrease in nuclear staining for ERβ when compared to biopsies taken following pregnancy. These changes in ERβ expression were not associated with histological atypia either during pregnancy or following delivery. Conclusion Congenital nevi may be unique in their response to altered estrogen levels. Given the slightly increased risk for the development of melanoma in giant congenital nevi and the dearth of information available regarding the effects of pregnancy on congenital nevi, this case illustrates the need for further study of these pigmented lesions. PMID:19528425

  15. Pervasive refusal syndrome - A clinical challenge.

    PubMed

    Kaku, Sowmyashree Mayur; Kommu, John Vijay Sagar; Seshadri, Shekhar; Girimaji, Satish Chandra; Srinath, Shoba

    2015-10-01

    Pervasive refusal syndrome is described as a condition comprising varying degrees of refusal across several domains; social withdrawal; resistance to treatment and is potentially life threatening with no detectable organic cause. Female predominance, refusal to eat with low weight, body image distortion, depressive features, premorbid personality issues similar to eating disorders have been noted, with 67% cases having complete recovery. In this paper, we describe what is probably the first case reported from India, of a child, who presented with neuropsychiatric symptoms, and treated with electroconvulsive therapy along with medications, but, sadly had a fatal outcome.

  16. Carpal tunnel syndrome - anatomical and clinical correlations.

    PubMed

    Iskra, Tomasz; Mizia, Ewa; Musial, Agata; Matuszyk, Aleksandra; Tomaszewski, Krzysztof A

    2013-01-01

    Carpal tunnel syndrome (CTS) is the most common and widely known of the entrapment neuropathies in which the body's peripheral nerves are compressed. Common symptoms of CTS involve the hand and result from compression of the median nerve within the carpal tunnel. In general, CTS develops when the tissues around the median nerve irritate or compress on the nerve along its course through the carpal tunnel, however often it is very difficult to determine cause of CTS. Proper treatment (conservative or surgical) usually can relieve the symptoms and restore normal use of the wrist and hand.

  17. Clinical and polysomnographic features of patients with Restless Legs Syndrome.

    PubMed

    Mungan, Semra; Ozcan, Murat; Orhan, Gurdal; Titiz, Ayse; Arli, Berna; Koseoglu, Sabri; Ak, Fikri; Dere, Haci Huseyin

    2016-05-01

    To reveal clinical and polysomnographic features in patients treated for restless leg syndrome, and to examine the compatibility of sleep data and clinical features. The study was conducted at the Department of Neurology, Ankara Numune Training and Education Hospital, Ankara, Turkey, and comprised patients who presented to the outpatient clinic between January and July 2014 who were diagnosed with restless leg syndrome based on the International RestIess Leg Syndrome Study Group criteria. Patients underwent polysomnography test in spontaneous sleep in a single room. SPSS 18 was used for statistical analyses. Of the 18 patients, 13(72%)were females and 5(28%)were males. Overall mean age was 51.56±11.57years (range: 23-66 years). Fourteen (77.8%) patients reported insomnia; 10(55.5%) patients had excessive daytime sleepiness; 13(72.2%) reported snoring; and 3(17%) had apnoea. Mean International Restless Legs Syndrome Study Group Rating Scale score was 26.11±7.9 (range: 16-40).Mean Epworth Sleepiness Scale score was 9.17±5.1 (range: 0-20). Restless leg syndrome was more common in women and the most common complaint was insomnia.

  18. Clinical report of 28 patients with Sheehan's syndrome.

    PubMed

    Sert, Murat; Tetiker, Tamer; Kirim, Sinan; Kocak, Mustafa

    2003-06-01

    The aim of the present study was to determine the clinical and hormonal characteristics with Sheehan's syndrome in 28 cases that we had diagnosed and followed in the last 20 years. Twenty-eight patients with Sheehan's syndrome, diagnosed and followed at our University Endocrinology Clinic in the last 20 years were reported in the study. Medical history, physical examination, routine laboratory examinations, pituitary hormone analysis, CT and/or MRI scan of the sella of the patients were reviewed. All patients had a history of massive hemorrhage at delivery and physical signs of Sheehan's syndrome. Twenty-six of them lacked postpartum milk production, followed by failure of resumption of menses. There were 9 subjects with disturbances in consciousness associated with hyponatremia on admittance. All 28 patients had secondary hypothyroidism, adrenal cortex failure, hypogonadotrophic hypogonadism and growth hormone deficiency. Diabetes insipidus has not been found in any patient. Empty sellae were revealed in 8 patients by CT and/or MRI scan. Sheehan's syndrome is still encountered in clinical practice occasionally. If not diagnosed early, it could cause increased morbidity and mortality. The most important clues for diagnosis of Sheehan's syndrome are lack of lactation and failure of menstrual resumption after a delivery complicated with severe hemorrhage.

  19. Hughes Syndrome (the antiphospholipid syndrome): ten clinical lessons.

    PubMed

    Hughes, Graham R V

    2008-01-01

    The APS was described 25 years ago as a triad of manifestations (GRV Hughes). During the last 3 decades the disease became more systemic than systemic lupus erythematosus (SLE). The paper entails many of the old clinical findings as well as novel ones which are still not well documented in large series. The authors also refer to the second hit theory of infectious origin of APS. How to treat and indications for self monitoring the INR are detailed. The question of whether specific IVIG (directed against anti cardiolipin) or anti CD 20 be incorporated into the therapeutic armamentarium employed in APS will be answered in the near future.

  20. Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation.

    PubMed

    Hussain, Jonathan; Schlachterman, Alexander; Kamel, Amir; Gupte, Anand

    2016-01-01

    We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA). This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with diffuse abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of significant nausea, vomiting, and diarrhea, which had been present intermittently over the past year. On examination, she was found to have a soft, nontender, and mildly distended abdomen without splenomegaly or masses. She had a normal blood pressure and was tachycardic (130 bpm). Her initial complete blood count and basic metabolic panel, excluding glucose, were within normal limits. She was found to have an elevated peripherally drawn venous ammonia (171 mmol/L) and near hypoglycemia (blood glucose 61 mg/dL), which were drawn given her history of HI/HA. She was continued on home carglumic acid and diazoxide, glucose was supplemented intravenously, and she was started on levetiracetam for seizure prophylaxis. An upper endoscopy (esophagogastroduodenoscopy [EGD]) was performed and was unremarkable, and biopsies taken were within normal limits. Following the EGD, she underwent a gastric emptying study that showed delayed emptying (216 minutes), consistent with a new diagnosis of gastroparesis, the likely etiology of her initial abdominal pain on presentation. This was subsequently treated with azithromycin oral solution. We present this case to raise awareness of this rarely encountered syndrome and to provide the basic principles of treatment.

  1. Clinical analysis of 113 patients with Poland syndrome.

    PubMed

    Yiyit, Nurettin; Işıtmangil, Turgut; Öksüz, Sinan

    2015-03-01

    Poland syndrome is a rare congenital anomaly characterized by the partial or complete absence of pectoral muscles, varying thoracic deformities, and hand anomalies. To date, many variants of this syndrome and its accompanying anomalies have been reported. In our clinic, 113 patients were diagnosed with Poland syndrome between 1990 and 2014. A latissimus dorsi muscle transfer was performed on 6 of these patients. Out of 113 patients, 63 (55.7%) were diagnosed with the syndrome on the right side, 42 (37.1%) were diagnosed on the left side, and 8 (7%) had a bilateral diagnosis. The partial or complete absence of the pectoralis major muscle was detected in all patients. Although 81 (71.6%) patients had a complete absence of the pectoralis major muscle, 32 (28.3%) were lacking only the sternocostal head of the muscle. In the analyzed cases, Poland syndrome was also found to be accompanied by specific anomalies. The most common anomaly accompanying Poland syndrome in these patients was Sprengel deformity, seen in 18 patients. Symmetry and stabilization of the chest wall were performed in 6 patients through transfer of the latissimus dorsi muscle. Poland syndrome is a rare congenital anomaly, which has several variants and accompanying anomalies. The absence of several muscles in addition to the pectoral muscle can be seen in patients with Poland syndrome. Sprengel deformity is the most common accompanying anomaly. Several surgical procedures have been reported for the syndrome; for example, transposing the latissimus dorsi muscle is an effective procedure in terms of stabilizing the chest wall and providing optimum symmetric body appearance. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  2. Linear syringocystadenoma papilliferum on the retroauricular area associated with nevus sebaceus.

    PubMed

    Ekinci, Algun Polat; Buyukbabani, Nesimi; Mehdi, Lale; Yazganoglu, K Didem; Baykal, Can

    2016-11-15

    Syringocystadenoma papilliferum is a rare cutaneous adnexal tumor that usually arises in the head and neck region. It may develop de novo or within a nevus sebaceus. Linear syringocystadenoma papilliferum is an uncommon variant of this benign tumor. We report a child with linear retroauricular distribution of syringocystadenoma papilliferum. A background nevus sebaceus was shown histologically. Total excision was curative with no recurrence. An association between the linear variant of syringocystadenoma papilliferum and nevus sebaceus has not been reported previously.

  3. Epilepsy in Down Syndrome: Clinical Aspects and Possible Mechanisms.

    ERIC Educational Resources Information Center

    Stafstrom, Carl E.

    1993-01-01

    This review examines clinical aspects of seizures among individuals with Down's syndrome and explores possible mechanisms by which the trisomy 21 brain may generate seizures. Evidence suggests an interplay between pathologically hyperexcitable membrane properties, altered neuronal structure, and abnormal inhibitory neurotransmission. (Author/JDD)

  4. Genital ulcer as a new clinical clue to PFAPA syndrome.

    PubMed

    Scattoni, R; Verrotti, A; Rinaldi, V E; Paglino, A; Carelli, A; D'Alonzo, R

    2015-04-01

    Vaginal ulcers can be associated with a number of different diseases. We describe two girls who presented genital ulcers as a persistent symptom of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome. The possibility of considering this clinical manifestation as a clue for the diagnosis of PFAPA is discussed.

  5. The SAPHO syndrome: a clinical and imaging study.

    PubMed

    Sallés, Meritxell; Olivé, Alejandro; Perez-Andres, Ricard; Holgado, Susana; Mateo, Lourdes; Riera, Elena; Tena, Xavier

    2011-02-01

    The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984-2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all "hot joints" showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.

  6. [Tolosa-Hunt syndrome: current clinical and electrophysiologic evaluation].

    PubMed

    Oba, E; Salu, P; Liesenborgh, F; Brihaye, M

    1989-01-01

    Three patients with Tolosa-Hunt syndrome were reported. All clinical investigations were negative in two of them, apart from the orbital venography, which showed on the affected side, an obstruction of the superior ophthalmic vein in its third segment. In the third case, early subclinical optic nerve involvement were demonstrated and followed up by visual evoked responses to checker-board pattern stimuli.

  7. Epilepsy in Down Syndrome: Clinical Aspects and Possible Mechanisms.

    ERIC Educational Resources Information Center

    Stafstrom, Carl E.

    1993-01-01

    This review examines clinical aspects of seizures among individuals with Down's syndrome and explores possible mechanisms by which the trisomy 21 brain may generate seizures. Evidence suggests an interplay between pathologically hyperexcitable membrane properties, altered neuronal structure, and abnormal inhibitory neurotransmission. (Author/JDD)

  8. Elastoma: clinical and histopathological aspects of a rare disease*

    PubMed Central

    Maciel, Marina Gagheggi; Enokihara, Milvia Maria Simões e Silva; Seize, Maria Bandeira de Melo Paiva; Marcassi, Aline Pantano; Piazza, Christiane Affonso De Donato; Cestari, Silmara da Costa Pereira

    2016-01-01

    Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

  9. Clinical grand rounds: atypical hemolytic uremic syndrome.

    PubMed

    Hodgkins, Kavita S; Bobrowski, Amy E; Lane, Jerome C; Langman, Craig B

    2012-01-01

    Atypical hemolytic uremic syndrome (aHUS) is a rare, lifethreatening, chronic, genetic disease of uncontrolled alternative pathway complement activation. The understanding of the pathophysiology and genetics of this disease has expanded over recent decades and promising new developments in the management of aHUS have emerged. Regardless of the cause of aHUS, with or without a demonstrated mutation or autoantibody, blockade of terminal complement activation through C5 is of high interest as a mechanism to ameliorate the disease. Eculizumab, an existing monoclonal antibody directed against C5 with high affinity, prevents the perpetuation of the downstream activation of the complement cascade and the damage caused by generation of the anaphylotoxin C5a and the membrane attack complex C5b-9, by blocking C5 cleavage. We report the successful use of eculizumab in a patient after kidney transplantation and discuss the disease aHUS.

  10. Rett syndrome: clinical review and genetic update

    PubMed Central

    Weaving, L; Ellaway, C; Gecz, J; Christodoulou, J

    2005-01-01

    Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat. PMID:15635068

  11. The ITP syndrome: pathogenic and clinical diversity

    PubMed Central

    Bussel, James B.; Liebman, Howard A.; Luning Prak, Eline T.

    2009-01-01

    Immune thrombocytopenia (ITP) is mediated by platelet autoantibodies that accelerate platelet destruction and inhibit their production. Most cases are considered idiopathic, whereas others are secondary to coexisting conditions. Insights from secondary forms suggest that the proclivity to develop platelet-reactive antibodies arises through diverse mechanisms. Variability in natural history and response to therapy suggests that primary ITP is also heterogeneous. Certain cases may be secondary to persistent, sometimes inapparent, infections, accompanied by coexisting antibodies that influence outcome. Alternatively, underlying immune deficiencies may emerge. In addition, environmental and genetic factors may impact platelet turnover, propensity to bleed, and response to ITP-directed therapy. We review the pathophysiology of several common secondary forms of ITP. We suggest that primary ITP is also best thought of as an autoimmune syndrome. Better understanding of pathogenesis and tolerance checkpoint defects leading to autoantibody formation may facilitate patient-specific approaches to diagnosis and management. PMID:19395674

  12. [Clinical aspect of diffuse alveolar hemorrhage syndrome].

    PubMed

    Ishida, Kazuo; Seki, Reiko; Inoue, Takeo; Iwamoto, Tokuzen; Hoshino, Makoto; Nakagawa, Takemasa

    2003-12-01

    Thirteen cases of diffuse alveolar hemorrhage (DAH) were encountered in our Hospital between January 1996 and October 2001. Eight patients were men and five were women, their mean age being 59.5 +/- 19.2 years (range, 18-88 years). Three patients had systemic lupus erythematosus (SLE), three (23%) had polyarteritis nodosa (including microscopic PN), one (7.7%) had allergic granulomatous angitis, one (7.7%) had Goodpasture syndrome, one (7.7%) had MPO-ANCA-associated vasculitis, one (7.7%) had Behçet's disease, one (7.7%) had chronic heart failure caused by mitral stenosis, one (7.7%) had chronic renal failure (etiology unknown), and the last had no particular disorder. Nine episodes (69%) had occurred as complications of primary diseases, four (31%) as the first symptoms of underlying diseases. Prognosis was poor in the former cases but in the latter, the prognosis was relatively favorable.

  13. Metabolic syndrome: clinical perspective for best practice.

    PubMed

    Olde, Darin; Alpert, Patricia; Dalusung-Angosta, Alona

    2013-12-01

    To explore current studies on metabolic syndrome (MetS), including its complex pathophysiology and to describe the unique role of the advanced practice nurse including management and ethical decision making utilizing a case study to exemplify salient points. From original research articles extracted from nursing and medical databases. MetS is a constellation of characteristics that increases the risk for the development of diabetes and cardiovascular disease. The pathophysiology of MetS is not completely understood, but is thought to involve a complex interaction between the environment, genetic susceptibility, insulin resistance, and abnormal adipose tissue function. The role of the advanced practice nurse is appropriate for early intervention and counseling of patients with MetS and those who are at risk, as well as addressing the ethical challenges that accompany their care. ©2013 The Author(s) ©2013 American Association of Nurse Practitioners.

  14. Delineation of a clinical syndrome caused by mosaic trisomy 15

    SciTech Connect

    Buehler, E.M.; Bienz, G.; Straumann, E.; Bosceh, N.

    1996-03-15

    We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet. Different degrees of mosaicism may explain the more or less severe manifestations in individual patients. 10 refs., 4 figs., 1 tab.

  15. Sjögren-Larsson syndrome in clinical practice.

    PubMed

    Fuijkschot, Joris; Theelen, Thomas; Seyger, Marieke M B; van der Graaf, Marinette; de Groot, Imelda J M; Wevers, Ron A; Wanders, Ronald J A; Waterham, Hans R; Willemsen, Michèl A A P

    2012-11-01

    This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.

  16. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.

    PubMed

    Lazic, Tamara; Li, Qiaoli; Frank, Michael; Uitto, Jouni; Zhou, Linda H

    2012-01-01

    Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. We compare this patient's phenotype with the only two other patients described with the same (G12R) mutation. The phenotypic heterogeneity of KID syndrome, inexplicable according to our current understanding of these proteins, speaks to the complexity of the connexin system and its overlapping expression patterns in different tissues.

  17. Rectal blue nevus: Case report of a rare entity and literature review.

    PubMed

    Makker, Jasbir; Sakam, Sailaja; Arety, Prasanthi; Niazi, Masooma; Balar, Bhavna

    2015-08-01

    Blue nevus, a pigmented skin lesion, affects the dermal melanocytes that are rich in melanin. Its occurrence on skin has been well described in literature. Less commonly, involvement of mucosal surfaces especially genitourinary tract has also been noticed. Here we present a rare case of a blue nevus involving the rectum. So far there has been only one prior description of the blue nevus involving the gastrointestinal mucosa. Differentiation of this lesion from melanoma is the key. Simple excision of the blue nevus with a biopsy forceps during the colonoscopy is an effective management.

  18. Spectral-Domain Optical Coherence Tomography of Polypoidal Choroidal Vasculopathy Associated With Benign Choroidal Nevus.

    PubMed

    De Salvo, Gabriella; Vaz-Pereira, Sara; Sehmi, Kulwant S; Andrews, Richard M; Sagoo, Mandeep S

    2015-01-01

    Two cases of polypoidal choroidal vasculopathy (PCV) complicating benign choroidal nevus and their tomographic features at spectral-domain optical coherence tomography (SD-OCT) are reported. Two eyes with choroidal nevus and associated subretinal fluid underwent complete ophthalmological examination, SD-OCT, fundus fluorescein angiography, and indocyanine green angiography (ICGA). SD-OCT and ICGA confirmed the diagnosis of PCV in both cases. Ophthalmologists should be aware of this rare combination between choroidal nevus and PCV. If a choroidal nevus presents with subretinal fluid, this does not always herald malignant transformation, and PCV should be ruled out so that the correct treatment can be planned.

  19. Hypertrichosis in Becker's nevus: effective low-fluence laser hair removal.

    PubMed

    Lapidoth, M; Adatto, M; Cohen, S; Ben-Amitai, D; Halachmi, S

    2014-01-01

    Becker's nevus is cosmetically bothersome both due to the hyperpigmentation and due to the hypertrichosis which can accompany it, particularly in males. Laser hair removal can be considered, but the pigmented background of the Becker's nevus makes the treatment more challenging. Fifteen patients with Becker's nevus underwent eight sessions of hair removal with low-fluence high-repetition-rate diode lasers (808-810 nm). All participants experienced significant hair reduction at 6 and 12 months. No adverse events were reported. The study supports the use of low fluence with high-repetition-rate diode laser hair removal as a safe and effective method for the management of hypertrichosis in Becker's nevus.

  20. Abdominal vascular syndromes: characteristic imaging findings.

    PubMed

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic.

  1. Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes.

    PubMed

    Cantó, Ester; Tintoré, Mar; Villar, Luisa M; Costa, Carme; Nurtdinov, Ramil; Álvarez-Cermeño, José C; Arrambide, Georgina; Reverter, Ferran; Deisenhammer, Florian; Hegen, Harald; Khademi, Mohsen; Olsson, Tomas; Tumani, Hayrettin; Rodríguez-Martín, Eulalia; Piehl, Fredrik; Bartos, Ales; Zimova, Denisa; Kotoucova, Jolana; Kuhle, Jens; Kappos, Ludwig; García-Merino, Juan Antonio; Sánchez, Antonio José; Saiz, Albert; Blanco, Yolanda; Hintzen, Rogier; Jafari, Naghmeh; Brassat, David; Lauda, Florian; Roesler, Romy; Rejdak, Konrad; Papuc, Ewa; de Andrés, Clara; Rauch, Stefan; Khalil, Michael; Enzinger, Christian; Galimberti, Daniela; Scarpini, Elio; Teunissen, Charlotte; Sánchez, Alex; Rovira, Alex; Montalban, Xavier; Comabella, Manuel

    2015-04-01

    Chitinase 3-like 1 (CHI3L1) has been proposed as a biomarker associated with the conversion to clinically definite multiple sclerosis in patients with clinically isolated syndromes, based on the finding of increased cerebrospinal fluid CHI3L1 levels in clinically isolated syndrome patients who later converted to multiple sclerosis compared to those who remained as clinically isolated syndrome. Here, we aimed to validate CHI3L1 as a prognostic biomarker in a large cohort of patients with clinically isolated syndrome. This is a longitudinal cohort study of clinically isolated syndrome patients with clinical, magnetic resonance imaging, and cerebrospinal fluid data prospectively acquired. A total of 813 cerebrospinal fluid samples from patients with clinically isolated syndrome were recruited from 15 European multiple sclerosis centres. Cerebrospinal fluid CHI3L1 levels were measured by enzyme-linked immunosorbent assay. Multivariable Cox regression models were used to investigate the association between cerebrospinal fluid CHI3L1 levels and time to conversion to multiple sclerosis and time to reach Expanded Disability Status Scale 3.0. CHI3L1 levels were higher in patients who converted to clinically definite multiple sclerosis compared to patients who continued as clinically isolated syndrome (P = 8.1 × 10(-11)). In the Cox regression analysis, CHI3L1 levels were a risk factor for conversion to multiple sclerosis (hazard ratio = 1.7; P = 1.1 × 10(-5) using Poser criteria; hazard ratio = 1.6; P = 3.7 × 10(-6) for McDonald criteria) independent of other covariates such as brain magnetic resonance imaging abnormalities and presence of cerebrospinal fluid oligoclonal bands, and were the only significant independent risk factor associated with the development of disability (hazard ratio = 3.8; P = 2.5 × 10(-8)). High CHI3L1 levels were associated with shorter time to multiple sclerosis (P = 3.2 × 10(-9) using Poser criteria; P = 5.6 × 10(-11) for McDonald criteria

  2. Pathophysiology and Japanese clinical characteristics in Marfan syndrome.

    PubMed

    Fujita, Daishi; Takeda, Norifumi; Imai, Yasushi; Inuzuka, Ryo; Komuro, Issei; Hirata, Yasunobu

    2014-08-01

    Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF-β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time-consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome.

  3. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

    PubMed Central

    2014-01-01

    Background Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father together with a gene-by-gene testing approach led us to the proper diagnosis. Case presentation We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. Subsequently, the proband was also found to have type-1 Arnold-Chiari malformation in association with syringomyelia. Conclusion Our experience suggests that differential clinical diagnosis among RASopathies remains ambiguous and raises doubts on the current diagnostic clinical criteria. In some cases, genetic tests represent the only conclusive proof for a correct diagnosis and, consequently, for establishing individual prognosis and providing adequate follow-up. Thus, molecular testing represents an essential tool in differential diagnosis of RASophaties. This view is further strengthened by the increasing accessibility of new sequencing techniques. Finally, to our knowledge, the described case represents the third report of the occurrence of Arnold Chiari malformation and the second description of syringomyelia with

  4. [Clinical literature based statistical analysis of common Chinese medical syndrome types].

    PubMed

    Li, Bing; Wang, Zhong; Zhang, Ying-Ying; Yu, Ya-Nan; Liu, Jun; Shen, Chun-Ti; Zhang, Lei; Wang, Yong-Yan

    2014-08-01

    According to the principle of evidence-based medicine (EBM), Chinese medical literatures based descriptive statistical analysis of common Chinese medical syndrome types were performed. By data extraction, standardization, and frequency calculation of disease names and syndrome types from 286 literatures in line with the inclusion criteria, the frequencies of diseases and syndromes were obtained to analyze common syndrome types in clinical practice, to analyze the distribution features of disease related syndromes and syndrome related diseases, to analyze the distribution of basic Chinese medical syndrome types in clinical common diseases as a whole, thus providing reference for clinical and basic researches.

  5. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association.

    PubMed

    Garg, Anubhav; Gupta, Lalit K; Khare, A K; Kuldeep, C M; Mittal, Asit; Mehta, Sharad

    2013-07-01

    A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity.

  6. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association

    PubMed Central

    Garg, Anubhav; Gupta, Lalit K.; Khare, A. K.; Kuldeep, C. M.; Mittal, Asit; Mehta, Sharad

    2013-01-01

    A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity. PMID:23984239

  7. Genetics of hereditary nephrotic syndrome: a clinical review

    PubMed Central

    2017-01-01

    Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis. This paper provides an update on the current knowledge of podocyte genes involved in the development of hereditary nephrotic syndrome and, thereby, reviews genotype-phenotype correlations to propose an approach for appropriate mutational screening based on clinical aspects. PMID:28392820

  8. The dysplastic nevus: from historical perspective to management in the modern era

    PubMed Central

    Duffy, Keith; Grossman, Douglas

    2013-01-01

    The dysplastic nevus is a discreet histologic entity, which exhibits some clinical and histologic features overlapping with common nevi and melanoma. These overlapping features present a therapeutic challenge, and with a lack of accepted guidelines, the management of dysplastic nevi remains a controversial subject. Although some differences between dysplastic and common nevi can be detected at the molecular level, there are currently no established markers to predict biologic behavior. In part II of this continuing medical education article, we will review the molecular aspects of dysplastic nevi and their therapeutic implications. Our goal is to provide the clinician with an up-to-date understanding of this entity to facilitate clinical management of patients with nevi that demonstrate histologic dysplasia. PMID:22703916

  9. Basal Cell Carcinoma or Trichoblastoma? Dermoscopic Examination of Black Macules Developing in the Same Nevus Sebaceus

    PubMed Central

    Kitamura, Shinya; Hata, Hiroo; Imafuku, Keisuke; Shimizu, Hiroshi

    2016-01-01

    Nevus sebaceus (NS) is a common congenital birthmark, and various tumors have been reported to develop in NS. Basal cell carcinoma (BCC) seldom occurs in NS, and it is very important to be able to clinicopathologically distinguish BCC from trichoblastoma. Herein, we describe a case of BCC and trichoblastoma occurring simultaneously in the same NS, including the differential dermoscopic features. BCC is clinically difficult to distinguish from trichoblastoma because the clinical manifestations are similar. In a dermoscopic examination of BCC, arborizing vessels are one of the diagnostically significant features. In our case, the BCC showed ‘multiple’ black structures, and the trichoblastoma showed a ‘single’ black structure without arborizing vessels. To the best of our knowledge, there have been no reports on the dermoscopic findings of secondary tumors on NS. PMID:27293402

  10. Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

    PubMed

    Júnior, Hercílio-Martelli; de Aquino, Sibele-Nascimento; Machado, Renato-Assis; Leão, Letícia-Lima; Coletta, Ricardo-Della; Burle-Aguiar, Marcos-José

    2015-01-01

    Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.

  11. Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates

    PubMed Central

    Mercer, Ben N.; Begg, Gordon A.; Page, Stephen P.; Bennett, Christopher P.; Tayebjee, Muzahir H.; Mahida, Saagar

    2016-01-01

    The early repolarization (ER) pattern on the 12-lead electrocardiogram is characterized by J point elevation in the inferior and/or lateral leads. The ER pattern is associated with an increased risk of ventricular arrhythmias and sudden cardiac death (SCD). Based on studies in animal models and genetic studies, it has been proposed that J point elevation in ER is a manifestation of augmented dispersion of repolarization which creates a substrate for ventricular arrhythmia. A competing theory regarding early repolarization syndrome (ERS) proposes that the syndrome arises as a consequence of abnormal depolarization. In recent years, multiple clinical studies have described the characteristics of ER patients with VF in more detail. The majority of these studies have provided evidence to support basic science observations. However, not all clinical observations correlate with basic science findings. This review will provide an overview of basic science and genetic research in ER and correlate basic science evidence with the clinical phenotype. PMID:27445855

  12. Hirayama disease (monomelic amyotrophy) clinically confused for carpal tunnel syndrome.

    PubMed

    Ay, Halil

    2017-01-01

    Hirayama disease (HD) is a rare motor neuron disorder that involves a single upper extremity. It is clinically characterized by weakness and atrophy of the muscles of the hand and forearm. This article presents a 19-year-old woman who visited the orthopedics outpatient clinic with weakness and atrophy in her right hand and was clinically diagnosed with advanced stage carpal tunnel syndrome and scheduled for surgical intervention; she was later diagnosed with HD by an electrophysiological study. As a result, it has been found that a careful electrophysiological study and neurological examination can be used to diagnose HD. In this way, advanced stage carpal tunnel syndrome will be ruled out and patients will be spared from an unnecessary surgical operation.

  13. Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth.

    PubMed

    Ruggieri, Martino; Pavone, Vito; Polizzi, Agata; Falsaperla, Raffaele; Fichera, Marco; Pavone, Piero

    2014-05-01

    Klippel-Trenaunay syndrome comprises congenital vascular malformations of the capillary (nevus flammeus), venous (varicosities) or lymphatic systems and disturbed (usually over-) growth of one or more extremities and adjacent parts of the trunk. In some individuals the affected body area may show reduced rather than increased growth. Such patients have been described inverse Klippel-Trenaunay syndrome and included within the spectrum of the syndrome. We report on a 3-year-old boy with vascular malformation of the nevus flammeus type extending from the right buttock to the sole of the right foot with clinical and radiological evidence of leg varicosities and underlying deficiency of the soft tissues and bone. In addition, he had macrodactyly of the first, second, and third toes with small nails, and cutaneous syndactyly of the second and third toes of the ipsilateral foot. Cranial magnetic resonance imaging showed high signal lesions in the peritrigonal areas with normal spinal images. This mosaic phenotype demonstrates that decreased and increased growth can coexist in the same body area of an individual with Klippel-Trenaunay syndrome. © 2014 Wiley Periodicals, Inc.

  14. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    PubMed

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported.

  15. Study design considerations for irritable bowel syndrome clinical trials

    PubMed Central

    Miller, Larry E.

    2014-01-01

    Clinical trials of therapies intended to alleviate symptoms of irritable bowel syndrome (IBS) are prevalent. However, the ideal study design remains elusive since there is no obvious pathophysiological target and no universally accepted endpoint to assess symptom improvement in IBS. The purpose of this paper is to identify and discuss the most problematic issues in the design of clinical trials intended to evaluate the effectiveness of treatments for IBS symptoms. Lack of standardized diagnostic criteria, symptom variability, heterogeneous subject characteristics, large placebo effects, lack of statistical power, inappropriate endpoint selection, and poorly selected study design are the most critical issues that may confound study outcomes in IBS clinical trials. PMID:25330749

  16. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.

    PubMed

    Bonomi, M; Rochira, V; Pasquali, D; Balercia, G; Jannini, E A; Ferlin, A

    2017-02-01

    Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients' interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.

  17. A Rare Clinical Course of Seronegative Pulmonary-Renal Syndrome

    PubMed Central

    Jabs, W. J.; Berhold, C.; Kuhlmann, M. K.; Ketterer, U.; Kische, S.; Ince, H.

    2016-01-01

    Purpose. Pulmonary-renal syndrome (PRS) is characterized by diffuse alveolar hemorrhage and rapidly progressive glomerulonephritis mainly due to autoimmune etiologies. Seronegative PRS is a challenging entity to the clinician, since early diagnosis may be missed leading to delayed appropriate treatment. Materials and Methods. We present the clinical course of a 77-year-old patient who was admitted under the suspected diagnosis of pneumogenic sepsis and septic renal failure with fever, dyspnea, and elevated CRP levels. The diagnosis of pulmonary-renal syndrome was initially missed because of the absence of autoantibodies in all serological findings. Results. Despite delayed initiation of immunosuppressive therapy and a prolonged period of dialysis and extracorporeal membrane oxygenation the patient recovered well and was released to a rehabilitation center with nearly normalized creatinine levels. The diagnosis of PRS was established by renal biopsy. Conclusion. This case illustrates the important differential diagnosis of seronegative pulmonary-renal syndrome in patients with pulmonary and renal impairment. PMID:27867668

  18. Strawberries, blueberries, and cranberries in the metabolic syndrome: clinical perspectives.

    PubMed

    Basu, Arpita; Lyons, Timothy J

    2012-06-13

    Emerging science supports therapeutic roles of strawberries, blueberries, and cranberries in metabolic syndrome, a prediabetic state characterized by several cardiovascular risk factors. Interventional studies reported by our group and others have demonstrated the following effects: strawberries lowering total and LDL-cholesterol, but not triglycerides, and decreasing surrogate biomarkers of atherosclerosis (malondialdehyde and adhesion molecules); blueberries lowering systolic and diastolic blood pressure and lipid oxidation and improving insulin resistance; and low-calorie cranberry juice selectively decreasing biomarkers of lipid oxidation (oxidized LDL) and inflammation (adhesion molecules) in metabolic syndrome. Mechanistic studies further explain these observations as up-regulation of endothelial nitric oxide synthase activity, reduction in renal oxidative damage, and inhibition of the activity of carbohydrate digestive enzymes or angiotensin-converting enzyme by these berries. These findings need confirmation in future studies with a focus on the effects of strawberry, blueberry, or cranberry intervention in clinical biomarkers and molecular mechanisms underlying the metabolic syndrome.

  19. HIV-associated lipodystrophy syndrome: A review of clinical aspects

    PubMed Central

    Baril, Jean-Guy; Junod, Patrice; LeBlanc, Roger; Dion, Harold; Therrien, Rachel; Laplante, François; Falutz, Julian; Côté, Pierre; Hébert, Marie-Nicole; Lalonde, Richard; Lapointe, Normand; Lévesque, Dominic; Pinault, Lyse; Rouleau, Danielle; Tremblay, Cécile; Trottier, Benoît; Trottier, Sylvie; Tsoukas, Chris; Weiss, Karl

    2005-01-01

    Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome. PMID:18159551

  20. [Clinical, laboratory and therapeutics aspects of Sheehan's syndrome].

    PubMed

    Soares, Débora Vieira; Conceição, Flávia Lúcia; Vaisman, Mário

    2008-07-01

    Sheehan's syndrome is characterized by hypopituitarism that occurs as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Nowadays it is not usually seen in developed countries because of the improvements in obstetric care. However, in developing countries it is still frequent and probably one of the most common causes of hypopituitarism. Most patients usually present it months to years later, with a history of failure of postpartum lactation, failure to resume menses and other signs of panhypopituitarism. In mild forms of the disease, patients may remain undetected and do not receive treatment for many years. Early diagnosis and appropriate treatment are important to reduce the morbimortality of the patients with Sheehan's syndrome. The aim of this review is to describe clinical, laboratory and therapeutic aspects of Sheehan's syndrome, including our experience in the replacement of recombinant GH in these patients.

  1. Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals

    PubMed Central

    Carter, Melissa T; Pierre, Stephanie A St.; Zackai, Elaine H; Emanuel, Beverly S; Boycott, Kym M

    2009-01-01

    Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioural issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals. PMID:19606488

  2. Pigmented choroidal nevus in a child with oculocutaneous albinism.

    PubMed

    Sharma, Priya; Kaliki, Swathi; Peña, Maria Soledad; Shields, Carol L

    2013-04-01

    We report the case of an 8-year-old white girl with albinism and a flat pigmented choroidal lesion in the left eye measuring 0.5 mm in diameter. There was no subretinal fluid, lipofuscin, or drusen. The patient later displayed 10 lightly-pigmented cutaneous nevi on her upper chest, left arm, and right leg at 8 months' follow-up. The choroidal nevus showed minimal change over 2 years.

  3. The Framingham school nevus study: a pilot study.

    PubMed

    Oliveria, Susan A; Geller, Alan C; Dusza, Stephen W; Marghoob, Ashfaq A; Sachs, Dana; Weinstock, Martin A; Buckminster, Marcia; Halpern, Allan C

    2004-05-01

    To (1). describe nevus patterns using digital photography and dermoscopy; (2). evaluate the relationship between host and environmental factors and prevalence of nevi in schoolchildren; and (3). demonstrate the feasibility of conducting a longitudinal study. Cross-sectional survey and 1-year prospective follow-up study. Students from 2 classrooms, grades 6 and 7, in the Framingham, Mass, school system (N = 52). A survey was completed by students and 1 of their parents that included questions on demographic and phenotypic characteristics, family history of skin cancer, and sun exposure and protection practices. An examination of nevi on the back was performed that included digital photography and digital dermoscopy. Follow-up child and parent surveys and examinations were conducted at 1-year follow-up. At baseline, the median number of back nevi was 15 (mean [SD], 21.9 [15.3]). Older age, male sex, fair skin, belief that a tan is healthier, tendency to burn, and sporadic use of sunscreen were positively associated with mole count, although age was the only statistically significant factor. Predominant dermoscopic patterns for the index nevus were as follows: 38% globular, 14% reticulated, 38% structureless, and 10% combinations of the above patterns with no predominant characteristic. The overall participation rate from baseline to follow-up was 81% (42/52) for the skin examination process. At the 1-year follow-up examination, new nevi were identified in 36% of students (n = 15), while 9.6% of baseline index nevi had changes in the dermoscopic pattern. Dominant dermoscopic pattern was related to nevus size: smaller nevi tended to be structureless, while larger nevi were of mixed pattern. This study supports the feasibility and utility of digital photography and dermoscopy for the longitudinal study of nevus evolution in early adolescence.

  4. Verrucous Epidermal Nevus - a misleading diagnosis for 28 years.

    PubMed

    Ocampo-Garza, Jorge; Di Chiacchio, Nilton Gioia; Haneke, Eckart; Di Chiacchio, Nilton; Noriega, Leandro Fonseca

    2017-09-19

    Epidermal nevi (EN) are hamartomas of the skin that result from mosaic post-zygotic mutations. There are several variants of EN, the verrucous epidermal nevus (VEN) being the most common. EN can be further subdivided into epidermolytic and nonepidermolytic, important since in contrast with nonepidermolytic EN, epidermolytic EN occurs sporadically (not heritable), and it is not associated with extracutaneous abnormalities. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  5. [Genetic and clinical diagnosis of Angelman syndrome. Case Reviews].

    PubMed

    García Ramírez, M; Csanyi, B; Martínez Antón, J; Delgado Marqués, M; Bauzano Poley, E

    2008-09-01

    Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome.

  6. Iliac vein compression syndrome: Clinical, imaging and pathologic findings

    PubMed Central

    Brinegar, Katelyn N; Sheth, Rahul A; Khademhosseini, Ali; Bautista, Jemianne; Oklu, Rahmi

    2015-01-01

    May-Thurner syndrome (MTS) is the pathologic compression of the left common iliac vein by the right common iliac artery, resulting in left lower extremity pain, swelling, and deep venous thrombosis. Though this syndrome was first described in 1851, there are currently no standardized criteria to establish the diagnosis of MTS. Since MTS is treated by a wide array of specialties, including interventional radiology, vascular surgery, cardiology, and vascular medicine, the need for an established diagnostic criterion is imperative in order to reduce misdiagnosis and inappropriate treatment. Although MTS has historically been diagnosed by the presence of pathologic features, the use of dynamic imaging techniques has led to a more radiologic based diagnosis. Thus, imaging plays an integral part in screening patients for MTS, and the utility of a wide array of imaging modalities has been evaluated. Here, we summarize the historical aspects of the clinical features of this syndrome. We then provide a comprehensive assessment of the literature on the efficacy of imaging tools available to diagnose MTS. Lastly, we provide clinical pearls and recommendations to aid physicians in diagnosing the syndrome through the use of provocative measures. PMID:26644823

  7. Expanding the mutation and clinical spectrum of Roberts syndrome.

    PubMed

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome.

  8. Congenital melanocytic nevus with features of hybrid schwannoma/perineurioma.

    PubMed

    Wang, Lei; Wang, Gang; Gao, Tianwen

    2013-05-01

    Neural differentiation by melanocytic nevi represents a well-recognized phenomenon, and melanocytic nevi with perineurial differentiation have been reported recently. We reported a case of a congenital melanocytic nevus with histopathologic features of hybrid schwannoma/perineurioma. The patient was a 36-year-old male who presented with a black tumor on his arm since birth. Histopathology showed a congenital melanocytic nevus in the superficial dermis, but more strikingly, in continuity with the melanocytic nevus, there was a well-circumscribed but unencapsulated nodule in the deep dermis. The nodule was composed of cellular and myxoid areas with storiform, laminated or whorled growth patterns. The cellular area was mainly composed of proliferation of plump spindle, oval or epithelioid cells. The myxoid area was mainly composed of proliferation of slender spindle cells with mucin deposition. Immunohistochemical stains showed that the cellular area was positive for S100 and CD34, weakly positive for EMA, negative for Glut-1 and collagen IV, the myxoid area was positive for S100, negative for CD34, strongly positive for EMA and focally positive for Glut-1 and collagen IV. Our results show that congenital melanocytic nevi may show neural differentiation with histopathologic features of hybrid schwannoma/perineurioma.

  9. Optical Coherence Tomography Angiography of Iris Nevus: A Case Report

    PubMed Central

    Allegrini, Davide; Montesano, Giovanni; Pece, Alfredo

    2016-01-01

    Iris nevus is common: 6% of patients with suspected iris melanoma have lesions other than melanoma, and 36% of them are nevi. Iris nevus turns into melanoma in approximately 8% of cases at a mean of 15 years. This case report provides the first description of an iris tumor examined with iris optical coherence tomography angiography (OCTA) compared to iris fluorescein angiography (IFA). A 60-year-old man with a diagnosis of iris nevus in the left eye was referred to our department for IFA and iris OCTA. The iris vasculature in IFA was visible only in the early phases, but not clearly. OCTA, however, gave visualization of the vascular network and very precisely defined the vessels of the whole lesion, except for the pupillary portion, which was masked by superficial pigment accumulations. IFA and iris OCTA can add information about the vascular architecture compared to slit-lamp biomicroscopy, ultrasound biomicroscopy, and anterior-segment OCT. However, IFA is time-consuming and invasive and can – very occasionally – cause serious adverse reactions. In contrast, OCTA defines the texture of the iris vasculature better. In conclusion, OCTA is a new method, easy to execute, needing no dye injection, and provides useful information on the vascular network of iris lesions. It could therefore be helpful in the diagnosis and follow-up of these lesions. PMID:27790134

  10. Metastatic Basal cell carcinoma accompanying gorlin syndrome.

    PubMed

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

  11. Lyell's Syndrome and Antimalarials: A Case Report and Clinical Review

    PubMed Central

    Nunes, Joana Miranda; Santareno, Sofia; Guerreiro, Lina; Margalho, Ana Filipa

    2017-01-01

    Toxic epidermal necrolysis (TEN) or Lyell's syndrome is a rare, however, life-threatening mucocutaneous disorder with an epidermal detachment of a total body surface area (TBSA) of >30%. It is triggered by an idiosyncratic immune-allergic reaction to a drug, with many possible drugs implicated. Treatment success relies on early diagnosis and withdrawal of suspected/causative drug(s) and supportive care. Clinical evidence for specific therapies is still sparse. It is described a case of Lyell syndrome by sulfonamides for chemoprophylaxis of malaria. The patient presented with an extensive, rapidly evolving skin detachment, which progressed, despite supportive therapy, involving about 80% of TBSA. This led us to initiate a course of immunoglobulin with good clinical response. The aim of this work is to provide a discussion of the case and simultaneously make a practical literature review of TEN. PMID:28250622

  12. Outcome Measures for Clinical Trials in Down Syndrome.

    PubMed

    Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah; Hartley, Sigan L; Edgin, Jamie; d'Ardhuy, Xavier Liogier; Capone, George; Conners, Frances A; Mervis, Carolyn B; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J; Urv, Tiina; Group, Outcome Measures Working

    2017-05-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

  13. Clinical variability in KBG syndrome: report of three unrelated families.

    PubMed

    Maegawa, Gustavo Henrique Boff; Leite, Júlio Cesar Loguercio; Félix, Têmis Maria; da Silveira, Heraldo Luís Dias; da Silveira, Heloísa Emília

    2004-12-01

    The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. Hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.

  14. [CONGENITAL MELANOCYTIC NEVUS OF THE SHOULDER WITH RAPID GROWTH PROGRESSION DURING PREGNANCY. SUCCESSFUL SURGICAL APPROACH].

    PubMed

    Trayanov, I; Trayanova, E; Chokoeva, A; Tchernev, G

    2015-01-01

    Congenital melanocytic nevi are common subject of scientific debates nowadays, because of their possibility for transformation in malignant melanoma, although relatively rare. The diagnosis is difficult, due to their non-specific clinical and histological presentation, while the therapeutic methods are varied, depending on their size and localization. Surgical excision, however, is the most secure among them, because a complete removal of the lesion could be achieved, which, firstly provides a prevention of a possible malignant transformation, as well as this approach provides material for histological examination. We present a case of a 23-year-old female patient with congenital melanocytic nevus, located on the upper back, which increased significantly its size during her pregnancy, successfully treated by single surgical excision, with excellent aesthetic results.

  15. The recurrent nevus phenomenon: a history of challenge, controversy, and discovery.

    PubMed

    Fox, John C; Reed, Jon A; Shea, Christopher R

    2011-07-01

    The diagnosis of recurrent nevus poses a potential challenge to practicing pathologists. Although most recurrent nevi show uniform microscopic findings and pose no great diagnostic difficulty, a few cases exhibit some histopathologic features similar to, and in some cases indistinguishable from, melanoma. Historically, the term pseudomelanoma has been used in the literature to describe such recurrent nevi, although this label has the potential for confusion and is no longer the favored term for recurrent pigmented melanocytic nevi. To describe historical, histopathologic, and immunohistochemical features of recurrent pigmented melanocytic nevi and to review briefly the literature surrounding the mechanism of recurrence. Published peer-reviewed literature and the authors' personal experience. Recognition of the histopathologic pattern of recurrent nevi leads the pathologist to the correct diagnosis in most cases; however, in particularly challenging specimens or in circumstances in which there is insufficient clinical history, immunohistochemical studies have proved helpful in distinguishing recurrent nevi from melanoma.

  16. Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families

    PubMed Central

    Júnior, Hercílio-Martelli; Machado, Renato-Assis; Leão, Letícia-Lima; Coletta, Ricardo- Della; Burle-Aguiar, Marcos-José

    2015-01-01

    Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS. Key words:Craniosynostosis, Pfeiffer syndrome, mutation, FGFR2. PMID:25129254

  17. ["Syndrome de glissement": clinical description, psychopathological models, and care management].

    PubMed

    Weimann Péru, N; Pellerin, J

    2010-06-01

    "Syndrome de glissement", a French geriatric concept, is a serious state of physical and psychological destabilization, including anorexia, malnutrition, withdrawal and opposition. It can be compared to the American "failure to thrive syndrome" although it is a somewhat different and less extensive conception. It occurs after a free period following a disease being cured or a moving event. Considering that it has no known medical etiology and that it presents psychological symptoms, several theories can be considered. It differs from melancholia in several points: clinically, depressive thoughts are not as clear as in melancholia; biologically, there is no history of bipolar disorder and there is a poor response to antidepressants; according to a psychoanalytical model, there no longer appears to be any mental work, unlike in melancholia. Psychopathological mechanisms could be close to essential depression, involving disunion of instincts, and progressive disorganization, with a psychosomatic disorganization following a traumatism. The comparison with anaclitic depression of babies, also proposed for the American failure to thrive syndrome, leads us to question the link between "syndrome de glissement" and early traumatisms such as maternal deprivation. Moreover, it enhances the importance of environment and lack of anaclisis for the onset of a "syndrome de glissement" and its evolution. Relationship between the patient and his/her caretakers is frail and extremely necessary. When the syndrome occurs, relatives and caretakers are submitted to violent feelings, which can give rise to excessive reactions. This is the reason why a third party is required in order to support the caregiver-caregiven couple, which can be the institution. It is the only way caretakers can be supportive enough for the patient. Copyright (c) 2009 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

  18. Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis

    PubMed Central

    Vishnevskia-Dai, Vicktoria; Chapman, Joav; Sheinfeld, Roee; Sharon, Tal; Huna-Baron, Ruth; Manor, Riri S.; Shoenfeld, Yehuda; Zloto, Ofira

    2016-01-01

    Abstract Susac syndrome is a rare condition characterized by the clinical triad of central nervous system (CNS) dysfunction, sensorineural hearing impairment, and branch retinal artery occlusion (BRAO). The purpose of this study is to examine the demographics, clinical characteristics, treatment, and long-term prognosis of Susac syndrome. The data recorded for all Susac syndrome patients treated at the Sheba Medical Center between 1998 and 2014 included demographics, clinical signs at presentation and during the disease course, imaging findings, treatment, and prognosis. Susac syndrome was diagnosed in 10 patients (age range 30–45 years). Only 2 patients presented with the full triad and 7 patients developed the full triad during mean follow-up period of 35 months. The average time to full triad was 7 months. Based on our observations at presentation, we divided the disease course into suspected, incomplete, and complete Susac syndrome. All 10 patients were treated at diagnosis with a pulse of high-dose intravenous methylprednisolone. There was improvement in visual acuity and visual field at the end of follow-up compared to baseline, but it was not statistically significant (P = 0.479 and P = 0.053, respectively). Five patients remained with neurological damage, and 5 patients had no improvement of their hearing loss at study closure. In conclusion, Susac syndrome is a rare condition that can mimic other disorders. The diagnosis is challenging because most patients do not initially present with the definitive triad. We suggest a clinical classification for the syndrome that may assist in early diagnosis. PMID:27787385

  19. The Korsakoff syndrome: clinical aspects, psychology and treatment.

    PubMed

    Kopelman, Michael D; Thomson, Allan D; Guerrini, Irene; Marshall, E Jane

    2009-01-01

    The Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the aftermath of an episode of Wernicke's encephalopathy. The present paper reviews the clinical and scientific literature on this disorder. A systematic review of the clinical and scientific literature on Wernicke's encephalopathy and the alcoholic Korsakoff syndrome. The Korsakoff syndrome is most commonly associated with chronic alcohol misuse, and some heavy drinkers may have a genetic predisposition to developing the syndrome. The characteristic neuropathology includes neuronal loss, micro-haemorrhages and gliosis in the paraventricular and peri-aqueductal grey matter. Lesions in the mammillary bodies, the mammillo-thalamic tract and the anterior thalamus may be more important to memory dysfunction than lesions in the medial dorsal nucleus of the thalamus. Episodic memory is severely affected in the Korsakoff syndrome, and the learning of new semantic memories is variably affected. 'Implicit' aspects of memory are preserved. These patients are often first encountered in general hospital settings where they can occupy acute medical beds for lengthy periods. Abstinence is the cornerstone of any rehabilitation programme. Korsakoff patients are capable of new learning, particularly if they live in a calm and well-structured environment and if new information is cued. There are few long-term follow-up studies, but these patients are reported to have a normal life expectancy if they remain abstinent from alcohol. Although we now have substantial knowledge about the nature of this disorder, scientific questions (e.g. regarding the underlying genetics) remain. More particularly, there is a dearth of appropriate long-term care facilities for these patients, given that empirical research has shown that good practice has beneficial effects.

  20. [Clinical and preclinical aspects of adrenal Cushing syndrome].

    PubMed

    Ambrosi, B; Re, T; Passini, E; Peverelli, S; Sartorio, A; Colombo, P

    1995-03-01

    Cushing's syndrome of adrenal origin encompasses different entities: besides the occurrence of adenoma and carcinoma, a not homogeneous group includes the ACTH-independent macro- or micronodular bilateral hyperplasia and the familial pigmented nodular hyperplasia (Carney's syndrome). Moreover, isolated cases of immunological origin and food-dependence have recently described. On clinical grounds no major characteristics may help to identify the adrenal origin of Cushing's syndrome, except for few situations as carcinoma or nodular dysplasia. Laboratory investigations of patients with adrenocortical tumor are based on ACTH and cortisol determinations in basal conditions and in response to high dose dexamethasone and CRH tests. However, isolated diagnostic problems may occur, as the presence of a black adrenocortical adenoma or the uncommon persistence of a circadian rhythmicity of glucocorticoid secretion. The evaluation of new markers of bone turnover (BGP, ICTP) and of collagen turnover (PIIINP) confirms the existence of corticosteroid-induced bone and collagen damages and may also be a useful prognostic index after treatment. Although up to now food-dependent Cushing's syndrome appears to be very rare, the adrenocortical sensitivity to GIP has been investigated in patients with either pituitary Cushing's disease, or clinically silent adrenal masses. No evidence of GIP-dependent cortisol secretion during the peptide infusion or after endogenous stimulation by OGTT was observed in any case. Since the wide availability of sensitive and noninvasive imaging techniques (CT and NMR), in recent years the finding of incidentalomas has become fairly common. In patients with incidentaloma abnormalities of the endocrine function are frequently encountered, and the "preclinical" Cushing's syndrome is increasingly recognized.(ABSTRACT TRUNCATED AT 250 WORDS)

  1. Insight into evolution of a giant congenital nevomelanocytic nevus over 14 years.

    PubMed

    Sathyanarayana, B D; Basavaraj, H B; Nischal, K C; Swaroop, M R; Lavanya, M S; Okram, Sarda

    2014-01-01

    Giant congenital nevomelanocytic nevus (GCNN) is a rare variant of congenital melanocytic nevus measuring >20 cm in size that often has a garment-like distribution. Regular follow up is recommended because of a risk of melanoma transformation of 4.6%. We report a 14-year-old boy with gradual regression of giant congenital melanocytic nevus over the left upper limb, chest, back and axilla, whom we have followed-up since birth. At birth, a hyperpigmented jet-black patch without hair was present over the left side of torso and upper limb including palms and nails. Follow up at the ages of 1, 5, 11 and 14 years showed progressive spontaneous regression of the nevus resulting in shiny atrophic skin, diffuse hypopigmentation, lentigo-like macules, nodules and arthrogryphosis of affected areas. Histopathology of the lesions on follow-up revealed absence of pigmented nevus cells in the regressing areas and thickened sclerotic collagen bundles.

  2. "Sky Full of Stars" Pattern: Dermoscopic Findings in a Desmoplastic Giant Congenital Melanocytic Nevus.

    PubMed

    Martín-Carrasco, Pablo; Bernabeu-Wittel, José; Dominguez-Cruz, Javier; Zulueta Dorado, Teresa; Conejo-Mir Sanchez, Julian

    2017-02-27

    Desmoplastic giant congenital melanocytic nevus (DGCN) is an uncommon variant of congenital nevus, presenting as a progressive induration and hypopigmentation of the lesion that occasionally causes hair loss and even total or partial disappearance of the nevus. A 6-month-old girl with a giant congenital melanocytic nevus that involved the entire posterior side of the right thigh was seen in our department. Nine months later, the peripheral area of the nevus presented as a marked induration with hypopigmentation. Dermoscopy demonstrated a reticular pattern exclusively located in the perifollicular areas, with a radial distribution from the follicular ostium that mimicked a "sky full of stars." We report a case of DGCN, including a dermoscopic description of the findings noted in the indurated and hypopigmented areas that appear as a "sky full of stars" image.

  3. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

    PubMed

    Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

    2015-01-20

    To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  4. Association of parental origin with clinical profile in klinefelter syndrome.

    PubMed

    Vallabhajosyula, Ranganath; Rajangam, Sayayee; C, Lalitha

    2015-03-01

    Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the association of the same on clinical profile was less reported. The detailed clinical phenotype when studied with the known origin of extra X may possibly explain the imprinting effect that may be helpful to derive diagnostic criteria in the syndrome. In the present study, we investigated the parental-of-origin of extra X chromosome in Klinefelter syndrome probands with an aim to report the association between the phenotype with that of its karyotype and the parental origin of supernumerary X. Seventy two probands that were referred to division of Human Genetics, St.John's Medical College, Bangalore with variable complaints and phenotypic features were diagnosed with informed consent as Klinefelter syndrome with a confirmed karyotype. The Karyotype was prepared by peripheral lymphocyte culture and GTG banding method. The parental origin was studied in 9 families of Klinefelter probands with standard protocol for GENE SCAN using X-chromosome specific Short Tandem Repeat markers. The outcome was analyzed to determine the parental origin by GENE MAPPER. STATISTICAL ANALYSIS was conducted to ascertain the significance of parental origin of supernumerary X with the phenotypic profile with confirmed karyotype. Seven of nine probands had 47, XXY karyotype and 2 were mosaic with 47,XXY/46,XY karyotype. Five probands had their supernumerary X from maternal side and four were paternally derived. Sixteen features as framed proforma were tabulated against the originated X in Klinefelter probands. 55.56% of Klinefelter stigmata were seen in prob and who had maternally derived X and the rest were with paternal X. The findings of the present study points on parent-of-origin effect on clinical profile and indicate that the imprinted X chromosome

  5. Strategies for clinical implementation of screening for hereditary cancer syndromes.

    PubMed

    Heald, Brandie; Marquard, Jessica; Funchain, Pauline

    2016-10-01

    Hereditary cancer syndromes generally account for 5%-10% of malignancies. While these syndromes are rare, affected patients carry significantly elevated risks of developing cancer, as do their at-risk relatives. Identification of these patients is critical to ensure timely and appropriate genetic testing relevant to cancer patients and their relatives. Several guidelines and tools are available to assist clinicians. Patients suspected to have hereditary cancer syndromes should be offered genetic testing in the setting of genetic counseling by a qualified genetics professional. Germline testing ranges from testing for a known specific familial mutation to testing of a broad differential diagnosis using a pan-cancer multi-gene panel. Taking a family history, referring specific types of tumors with higher likelihood of heredity, implementing universal screening protocols such as microsatellite instability/immunohistochemistry (MSI/IHC) for specific tumors, and referring patients with somatic tumor testing that have potentially germline consequences are all important components to the identification of hereditary cancer syndromes in the oncology clinic. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Alport syndrome--insights from basic and clinical research.

    PubMed

    Kruegel, Jenny; Rubel, Diana; Gross, Oliver

    2013-03-01

    In 1927, Arthur C. Alport first published his description of a triad of symptoms in a family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes. A few years after his death, this group of symptoms was renamed Alport syndrome. To this day, Alport syndrome still inevitably leads to end-stage renal disease and the need for renal replacement therapy, starting in young adulthood. During the past two decades, research into this rare disease has focused on the effects of mutations in collagen type IV and the role of changes in podocytes and the glomerular basement membrane that lead to early kidney fibrosis. Animal models of Alport syndrome also demonstrate the pathogenetic importance of interactions between podocytes and the extracellular matrix. Such models might also help researchers to answer basic questions about podocyte function and the development of fibrosis, and to develop new therapeutic approaches that might be of use in other kidney diseases. In this Review, we discuss the latest basic and clinical research on Alport syndrome, focusing on the roles of podocyte pathology and the extracellular matrix. We also highlight early diagnosis and treatment options for young patients with this disorder.

  7. Expanding the clinical picture of the MECP2 Duplication syndrome.

    PubMed

    Lim, Z; Downs, J; Wong, K; Ellaway, C; Leonard, H

    2017-04-01

    Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers and clinicians on individuals with Rett syndrome and MECP2 associated disorders, was used as the data source. Data were available on 56 cases (49 males and 7 females) with MECP2 Duplication syndrome. Median age at ascertainment was 7.9 years (range: 1.2-37.6 years) and at diagnosis 3.0 years (range: 3 weeks-37 years). Less than a third (29%) learned to walk. Speech deterioration was reported in 34% and only 20% used word approximations or better at ascertainment. Over half (55%) had been hospitalised for respiratory infections in the first 2 years of life. Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. Following the recent demonstration of phenotype reversal in a mouse model of MECP2 Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Thrombocytopenia-absent radius syndrome: a clinical genetic study

    PubMed Central

    Greenhalgh, K; Howell, R; Bottani, A; Ancliff, P; Brunner, H; Verschuuren-Bemel..., C; Vernon, E; Brown, K; Newbury-Ecob, R

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified. PMID:12471199

  9. Genetic and clinical advances in congenital long QT syndrome.

    PubMed

    Mizusawa, Yuka; Horie, Minoru; Wilde, Arthur A M

    2014-01-01

    Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval on the 12-lead ECG, torsades de pointes and a higher chance of sudden cardiac death. LQTS segregates in a Mendelian fashion, which includes Romano-Ward syndrome with an autosomal dominant pattern as well as a rare autosomal recessive pattern (Jervell and Lange-Nielsen syndrome). Since 1957 when Jervell and Lange-Nielsen reported the first familial LQTS with congenital deafness, progress in understanding the genetic and electrophysiological mechanisms of LQTS has tremendously improved diagnostic methods and treatments. In the meantime, it has become evident that LQTS may not always be explained by a single gene mutation, but seems to follow a more complex genetic model intertwined with genetic common polymorphisms that have a mild to moderate effect on disease expression. In this review, we summarize the characteristics of LQTS (mainly LQT1-3) and briefly describe the most recent advances in LQTS clinical diagnostics as well as genetics.

  10. Burning mouth syndrome: current clinical, physiopathologic, and therapeutic data.

    PubMed

    Ducasse, Déborah; Courtet, Philippe; Olie, Emilie

    2013-01-01

    Primary burning mouth syndrome (BMS) is defined as an "intraoral burning for which no medical or dental cause was found." Lifetime prevalence ranges from 3.7% to 18% - 40% in the elderly. There is no consensus among experts on the diagnostic criteria of BMS, the etiology is poorly understood, and there are no existing clinical guidelines. Therefore, BMS is often underdiagnosed and its management complex. For patients with BMS, this lack of clinical expertise may result in decreased quality of life and increased psychological distress.We conducted a systematic review to identify clinical features, pathophysiology, and therapeutic strategies for BMS. We discuss the multifactorial origin, involving peripheral nerve dysfunction and hormonal dysfunction, as well as psychological traits. We also describe the results of randomized clinical trials for each treatment through a pathophysiologic approach. This review should help clinicians recognize BMS, understand its pathophysiology, and gain an enhanced scientific understanding of therapeutic alternatives.

  11. Andersen-Tawil syndrome: clinical and molecular aspects.

    PubMed

    Nguyen, Hoai-Linh; Pieper, Gerard H; Wilders, Ronald

    2013-12-05

    Andersen–Tawil syndrome (ATS) is a rare hereditary multisystem disorder. Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms. The expressivity of these symptoms is, however, extremely variable, even within single ATS affected families, and not all ATS patients present with the full triad of symptoms. ATS patients may show a prolongation of the QT interval,which explains the classification as long QT syndrome type 7 (LQT7), and specific neurological or neurocognitive defects. In ATS type 1 (ATS1), the syndrome is associated with a loss-of-function mutation in the KCNJ2 gene,which encodes the Kir2.1 inward rectifier potassium channel. In ATS type 2 (ATS2), which does not differ from ATS1 in its clinical symptoms, the genetic defect is unknown. Consequently, ATS2 comprises all cases of ATS in which genetic testing did not reveal a mutation in KCNJ2. The loss-of-function mutations in KCNJ2 in ATS1 affect the excitability of both skeletal and cardiac muscle, which underlies the cardiac arrhythmias and periodic paralysis associated with ATS. Thus far, the molecular mechanism of the dysmorphic features is only poorly understood. In this review, we summarize the clinical symptoms, the underlying genetic and molecular defects, and the management and treatment of ATS.

  12. How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.

    PubMed Central

    Turolla, L; Clementi, M; Tenconi, R

    1990-01-01

    A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic. Images PMID:2103730

  13. [Clinical study of 12 cases with obstetric mirror syndrome].

    PubMed

    Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

    2012-03-01

    To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

  14. Panayiotopoulos syndrome: epidemiological and clinical characteristics and outcome.

    PubMed

    Durá-Travé, T; Yoldi-Petri, M E; Gallinas-Victoriano, F

    2008-04-01

    The aim of this study was to analyse the epidemiological, clinical and evolutional characteristics of Panayiotopoulos syndrome (PS) in order to facilitate the diagnosis in daily clinical practice. Thirty-seven medical records of patients diagnosed with PS were reviewed and the epidemiological and clinical features, results of complementary studies and evolutional data were collected. Mean age at diagnosis was 5.4 years. Female/male ratio was 2.1. The majority of seizures occurred during sleep (67.2%). They usually begin with autonomic manifestations or vomiting (70.1%). Ictal eye and/or cephalic deviation and progression to partial or generalized convulsions were also quite frequent. EEG showed occipital spikes in 28 patients (75.7%). Besides, 71.3% of recurrences were observed in the first 6 months after diagnosis, and 82.9% of the patients had no seizures beyond 2 years from diagnosis. One patient with an atypical development was recorded. The PS is a relatively frequent epileptic syndrome in paediatric age, especially in pre-school children. Although its semiological sequence is fairly typical, the unspecific clinical and neurological characteristics complicate the diagnostic suspicion. Prognosis is excellent; however, it would be convenient to keep a strict evolutional follow-up in these patients as an atypical evolution might occur.

  15. Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

    PubMed

    Seys, Elsa; Andrini, Olga; Keck, Mathilde; Mansour-Hendili, Lamisse; Courand, Pierre-Yves; Simian, Christophe; Deschenes, Georges; Kwon, Theresa; Bertholet-Thomas, Aurélia; Bobrie, Guillaume; Borde, Jean Sébastien; Bourdat-Michel, Guylhène; Decramer, Stéphane; Cailliez, Mathilde; Krug, Pauline; Cozette, Paul; Delbet, Jean Daniel; Dubourg, Laurence; Chaveau, Dominique; Fila, Marc; Jourde-Chiche, Noémie; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Lemoine, Sandrine; Djeddi, Djamal; Llanas, Brigitte; Louillet, Ferielle; Merieau, Elodie; Mileva, Maria; Mota-Vieira, Luisa; Mousson, Christiane; Nobili, François; Novo, Robert; Roussey-Kesler, Gwenaëlle; Vrillon, Isabelle; Walsh, Stephen B; Teulon, Jacques; Blanchard, Anne; Vargas-Poussou, Rosa

    2017-08-01

    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes. Copyright © 2017 by the American Society of Nephrology.

  16. Glucocorticoid action and the clinical features of Cushing's syndrome.

    PubMed

    Yanovski, J A; Cutler, G B

    1994-09-01

    Glucocorticoids mainly act through binding to cytosolic receptors that translocate to the nucleus after ligand binding, and dimerize to affect gene transcription in multiple fashions. The liganded receptors may interact with DNA at specific glucocorticoid responsive-elements, may physically hinder the ability of other transcription-regulating proteins to interact with their own DNA response-elements, and may form intranuclear complexes with the transcription factor c-jun, thus changing the number of c-jun/c-fos heterodimers that bind at AP-1 sites. By these, and perhaps other, mechanisms, physiologic concentrations of glucocorticoids regulate normal tissue metabolism, and supraphysiologic concentrations cause Cushing's syndrome. Cushing's syndrome leaves virtually no body tissue untouched. Left untreated, it results in progressive adiposity, myopathy, dermopathy (atrophy, stria, purpura, and hirsutism), psychopathy, glucose intolerance, hypercholesterolemia, hypertension, atherosclerosis, immunosuppression, and, ultimately, death. The physiology underlying each of these effects of hypercortisolism has been reviewed. The differences in the presentation of Cushing's syndrome in children and adults have also been discussed. The goal of the clinician must be to identify individuals with Cushing's syndrome as early in the course of the disease as possible so as to avoid the devastating complications that result from prolonged hypercortisolism. In patients for whom screening tests are equivocal, or only intermittently elevated, it may be necessary to re-evaluate the patient over time to establish that the patient has hypercortisolism. Some clinical guidelines for which patients to screen for hypercortisolism have been presented. Once hypercortisolism is established, patients with mild hypercortisolism (urine free cortisol less than four-fold above the upper limit of normal) should undergo tests to differentiate true Cushing's syndrome from a pseudo-Cushing state.

  17. Biomarkers of Metabolic Syndrome: Biochemical Background and Clinical Significance.

    PubMed

    Robberecht, Harry; Hermans, Nina

    2016-03-01

    Biomarkers of the metabolic syndrome are divided into four subgroups. Although dividing them in groups has some limitations, it can be used to draw some conclusions. In a first part, the dyslipidemias and markers of oxidative stress are discussed, while inflammatory markers and cardiometabolic biomarkers are reviewed in a second part. For most of them, the biochemical background and clinical significance are discussed, although here also a well-cut separation cannot always be made. Altered levels cannot always be claimed as the cause, risk, or consequence of the syndrome. Several factors are interrelated to each other and act in a concerted, antagonistic, synergistic, or modulating way. Most important conclusions are summarized at the end of every reviewed subgroup. Genetic biomarkers or influences of various food components on concentration levels are not included in this review article.

  18. [Clinical and neuropathological aspects of Wernicke-Korsakoff syndrome].

    PubMed

    Zubaran, C; Fernandes, J; Martins, F; Souza, J; Machado, R; Cadore, M

    1996-12-01

    Alcohol abuse is one of most serious problems in public health and the Wernicke-Korsakoff syndrome one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in planning treatment. Besides new pharmacological proposals, treatment is based on the restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article the history, epidemiology, clinical and neuropathological features of the Wernicke-Korsakoff syndrome, as well as some aspects of its treatment and prognosis, are described.

  19. [Clinical picture and pathogenesis of the Refsum syndrome].

    PubMed

    Shevchenko, A M

    1977-01-01

    The author reports of 2 cases (sisters of 13 and 15 years old) with the Refsum syndrome. The disease had its onset at the age of 12 and 5 years with a progressive development and remissions. The clinical picture was characterized by a recurrent syndrome of polyradiculoneurites with a slight protein cellular dissociation in the CSF, an expressed sensitive ataxia with elements of cerebellar disorders, a drop in the acuity of sight, audition, intellectual level and a deformation of the talipes of the Friedreich type. In a single examination of fatty acids in the blood serum by the method of gas chromotography there were no data pointing to the existence of 3, 7, 11, 15-tetra metylhexadecone acids. On the basis of an immunological study the author discusses the role of autoimmune reactions in the pathogenesis of the diseases. A differential diagnosis was conducted between acanthocytosis and porphyria with recommendations in regard to treatment.

  20. Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis.

    PubMed

    Wang, C-Z; Guo, L-L; Han, B-Y; Su, X; Guo, Q-H; Mu, Y-M

    2017-01-01

    Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. The typical manifestations of PSIS can be detected by magnetic resonance imaging. Several genes in the Wnt, Notch and Shh signalling pathways related to hypothalamic-pituitary development, such as PIT1, PROP1, LHX3/LHX4, PROKR2, OTX2, TGIF and HESX1, have been found to be associated with PSIS. Nevertheless, the aetiology in the majority of cases still remains unknown. In the present review, we provide an overview of clinical features of PSIS and summarise our current understanding of the underlying pathogenic mechanisms for this rare syndrome. Furthermore, we propose future research directions that may help our understanding of the aetiology of PSIS.

  1. Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.

    PubMed

    Packer, R A; Logan, M A; Guo, L T; Apte, S S; Bader, H; O'Brien, D P; Johnson, G; Shelton, G D

    2017-03-01

    Musladin-Lueke syndrome (MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s. Recent research identified a founder mutation (c.660C>T; p.R221C) in the ADAMTSL2 gene in Beagles with MLS. Here, we report the detailed clinical phenotype and laboratory findings in 2 Beagles affected with MLS. We discuss these findings in relation to the human disorder geleophysic dysplasia (GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  2. MYH polyposis syndrome: clinical findings, genetics issues and management.

    PubMed

    Sereno, M; Merino, M; López-Gómez, M; Gómez-Raposo, C; Zambrana Tébar, F; Moreno Rubio, J; Espinós, J; Martín-Algarra, S; Casado Sáenz, E

    2014-08-01

    Colorectal cancer (CRC) is one of the most frequent cancer in first world. Two hereditary CCR syndrome have been described: familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer. A recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an increased risk of CRC and is responsible for 30-40 % of adenomatous polyposis cases in which an APC mutation cannot be found. However, there is no clear consensus in the literature as whether a monoallelic mutation increases the risk for colorectal cancer. In addition, some authors have indicated that the spectrum of extracolonic lesions in MYH associated polyposis (MAP) might be far different from that observed in FAP and could be more similar to Lynch syndrome spectrum. In this review we are going to describe some general and specific aspects of MAP, including genetic topics, clinical features, different phenotypes and strategies to reduce CCR risk.

  3. Rett Syndrome: Crossing the Threshold to Clinical Translation

    PubMed Central

    Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.

    2016-01-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  4. Rett Syndrome: Crossing the Threshold to Clinical Translation.

    PubMed

    Katz, David M; Bird, Adrian; Coenraads, Monica; Gray, Steven J; Menon, Debashish U; Philpot, Benjamin D; Tarquinio, Daniel C

    2016-02-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders.

  5. A Retrospective Study on the Characteristics of Treating Nevus of Ota by 1064-nm Q-switched Neodymium-doped Yttrium Aluminum Garnet Laser

    PubMed Central

    Liu, Yanting; Zeng, Weihui; Geng, Songmei

    2016-01-01

    Background: The Q-switched neodymium-doped yttrium aluminum garnet (QS Nd:YAG) laser has a significant effect in treating nevus of Ota, but there is lack of a retrospective study about the characteristics of efficacy. Aims and Objectives: To retrospectively analyze the correlation between the clinical characteristics and efficacy, complications, recurrence of QS Nd:YAG laser in treating nevus of Ota. Materials and Methods: One hundred and seventy-one Chinese patients (144 female, 27 male) of nevus of Ota were treated with the 1064-nm QS Nd:YAG laser. All cases were treated with fluencies of 4–8 J/cm2 and a spot size of 2–4 mm. Clinical photographs were taken before every treatment and patients were followed up by their clinicians. Results: One hundred and forty-five patients (84.8%) acquired more than 75% improvement with an average of 4.6 sessions. The treatment effect has no significant correlation with sex (P > 0.05). The blue-black and brown lesions improved more than the light-brown (P < 0.05). Hyperpigmentation affected two (1.2%) of the patients and hypopigmentation affected one patient (0.6%). No other adverse effect was observed. Recurrence was seen in two patients (1.2%). Conclusion: The 1064-nm QS Nd:YAG laser is effective with rare complications and recurrence in the treatment of nevus of Ota. The efficacy correlated with lesion color, which is meaningful to estimate the prognosis. PMID:27293272

  6. Clinical Experience of the Klippel-Trenaunay Syndrome

    PubMed Central

    Sung, Hyung Min; Lee, Seok Jong; Lee, Jong Min; Huh, Seung; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Cho, Byung Chae

    2015-01-01

    Background The Klippel-Trenaunay syndrome (KTS) is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center. Methods We conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered. Results The sex distribution was balanced, with 9 (47%) males and 10 (53%) females. The mean follow-up period was 4.1 years (range, 7 months-9 years). Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients. Conclusions KTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management. PMID:26430625

  7. Clinical Experience of the Klippel-Trenaunay Syndrome.

    PubMed

    Sung, Hyung Min; Chung, Ho Yun; Lee, Seok Jong; Lee, Jong Min; Huh, Seung; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Cho, Byung Chae

    2015-09-01

    The Klippel-Trenaunay syndrome (KTS) is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center. We conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered. The sex distribution was balanced, with 9 (47%) males and 10 (53%) females. The mean follow-up period was 4.1 years (range, 7 months-9 years). Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients. KTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management.

  8. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

    PubMed

    Killoran, C E; Abbott, M; McKusick, V A; Biesecker, L G

    2000-07-01

    The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

  9. Clinical, imaging, and pathological heterogeneity of the Alzheimer's disease syndrome.

    PubMed

    Lam, Benjamin; Masellis, Mario; Freedman, Morris; Stuss, Donald T; Black, Sandra E

    2013-01-01

    With increasing knowledge of clinical in vivo biomarkers and the pathological intricacies of Alzheimer's disease (AD), nosology is evolving. Harmonized consensus criteria that emphasize prototypic illness continue to develop to achieve diagnostic clarity for treatment decisions and clinical trials. However, it is clear that AD is clinically heterogeneous in presentation and progression, demonstrating variable topographic distributions of atrophy and hypometabolism/hypoperfusion. AD furthermore often keeps company with other conditions that may further nuance clinical expression, such as synucleinopathy exacerbating executive and visuospatial dysfunction and vascular pathologies (particularly small vessel disease that is increasingly ubiquitous with human aging) accentuating frontal-dysexecutive symptomatology. That some of these atypical clinical patterns recur may imply the existence of distinct AD variants. For example, focal temporal lobe dysfunction is associated with a pure amnestic syndrome, very slow decline, with atrophy and neurofibrillary tangles limited largely to the medial temporal region including the entorhinal cortex. Left parietal atrophy and/or hypometabolism/hypoperfusion are associated with language symptoms, younger age of onset, and faster rate of decline - a potential 'language variant' of AD. Conversely, the same pattern but predominantly affecting the right parietal lobe is associated with a similar syndrome but with visuospatial symptoms replacing impaired language function. Finally, the extremely rare frontal variant is associated with executive dysfunction out of keeping with degree of memory decline and may have prominent behavioural symptoms. Genotypic differences may underlie some of these subtypes; for example, absence of apolipoprotein E e4 is often associated with atypicality in younger onset AD. Understanding the mechanisms behind this variability merits further investigation, informed by recent advances in imaging techniques

  10. Clinical, imaging, and pathological heterogeneity of the Alzheimer's disease syndrome

    PubMed Central

    2013-01-01

    With increasing knowledge of clinical in vivo biomarkers and the pathological intricacies of Alzheimer's disease (AD), nosology is evolving. Harmonized consensus criteria that emphasize prototypic illness continue to develop to achieve diagnostic clarity for treatment decisions and clinical trials. However, it is clear that AD is clinically heterogeneous in presentation and progression, demonstrating variable topographic distributions of atrophy and hypometabolism/hypoperfusion. AD furthermore often keeps company with other conditions that may further nuance clinical expression, such as synucleinopathy exacerbating executive and visuospatial dysfunction and vascular pathologies (particularly small vessel disease that is increasingly ubiquitous with human aging) accentuating frontal-dysexecutive symptomatology. That some of these atypical clinical patterns recur may imply the existence of distinct AD variants. For example, focal temporal lobe dysfunction is associated with a pure amnestic syndrome, very slow decline, with atrophy and neurofibrillary tangles limited largely to the medial temporal region including the entorhinal cortex. Left parietal atrophy and/or hypometabolism/hypoperfusion are associated with language symptoms, younger age of onset, and faster rate of decline - a potential 'language variant' of AD. Conversely, the same pattern but predominantly affecting the right parietal lobe is associated with a similar syndrome but with visuospatial symptoms replacing impaired language function. Finally, the extremely rare frontal variant is associated with executive dysfunction out of keeping with degree of memory decline and may have prominent behavioural symptoms. Genotypic differences may underlie some of these subtypes; for example, absence of apolipoprotein E e4 is often associated with atypicality in younger onset AD. Understanding the mechanisms behind this variability merits further investigation, informed by recent advances in imaging techniques

  11. Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment.

    PubMed

    Cianci, Francesco; Zoli, Angelo; Gremese, Elisa; Ferraccioli, Gianfranco

    2017-07-19

    Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare disease which is often misdiagnosed and under-recognized, because of its peculiar and heterogeneous clinical presentation. Its main features consist of cutaneous and osteoarticular manifestations, the latter affecting more often the anterior chest wall and having typical radiologic findings. There are no validated diagnostic criteria for SAPHO and no guidelines for treatment, due mainly to its rarity; as a consequence, therapy is empirical and aimed to control pain and modifying inflammatory process. To date, the use of anti-TNF agents has been proved to be a valid alternative for patients unresponsive to conventional treatments, such as NSAIDs, corticosteroids, DMARDs and biphosphonates. The clinical heterogeneity of the disease, possibly due to differences in pathogenic mechanism of different manifestations, is challenging for both diagnosis and treatment, which should aim to control both skin and bone involvement in different clinical subsets. Here, we summarize the current status of knowledge about the SAPHO syndrome and present two cases of patients with very different disease manifestations, suggesting the need for personalized treatment.

  12. Joubert syndrome: Clinical and radiological characteristics of nine patients

    PubMed Central

    Elhassanien, Ahmed Farag; Alghaiaty, Hesham Abdel-Aziz

    2013-01-01

    Background: Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs). Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation. PMID:23956573

  13. The Natural History and Clinical Syndromes of Degenerative Cervical Spondylosis

    PubMed Central

    Kelly, John C.; Groarke, Patrick J.; Butler, Joseph S.; Poynton, Ashley R.; O'Byrne, John M.

    2012-01-01

    Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy PMID:22162812

  14. [MR manifestations and clinical significance of iliotibial band friction syndrome].

    PubMed

    Yan, Ran; Huang, Zhenguo; Wang, Liwen; Zhang, Xuezhe

    2014-05-20

    To describe the MRI features of Iliotibial band friction syndrome (ITBFS), in order to improve the understanding and diagnosis of ITBFS. The MR findings of 16 patients (18 knees )of clinically diagnosis ITBFS were reviewed retrospectively. The MRI features of ITBFS:(1)Ill- defined abnormal signal intensity extended to the lateral femoral epicondyle.(2) Poorly defined abnormal signal intensity presented deep to the ITB adjacent to the lateral femoral epicondyle. (3) Fluid collections medial to the ITB adjacent to the lateral femoral epicondyle. (4) The part of ITB over the lateral femoral epicondyle was thicker. (5) Joint effusion. (6)Other abnormal signs. MRI is a relatively good method for detection of ITBFS.

  15. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy].

    PubMed

    Krönauer, T; Friederich, P

    2015-08-01

    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  16. [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms].

    PubMed

    Larsen, Jan; Stubbings, Vibeke; Møller, Rikke Steensbjerre; Hjalgrim, Helle

    2013-12-09

    Glucose transporter-1 deficiency syndrome (GLUT1-DS) is caused by a decreased function of the glucose transporter GLUT1 protein, which is located in the blood brain barrier. This leads to inadequate glucose levels for brain metabolism and can cause various clinical symptoms including medically intractable epilepsy, developmental delay and complex movement disorders. Ketonic diet is the golden standard for treatment of GLUT1-DS. GLUT1-DS should be suspected in patients with early-onset intractable epilepsy with developmental delay or activity-induced movement disorders with or without epilepsy.

  17. Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Nieman, Lynnette K.; Biller, Beverly M. K.; Findling, James W.; Murad, M. Hassan; Newell-Price, John; Savage, Martin O.; Tabarin, Antoine

    2015-01-01

    Objective: The objective is to formulate clinical practice guidelines for treating Cushing's syndrome. Participants: Participants include an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. The European Society for Endocrinology co-sponsored the guideline. Evidence: The Task Force used the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence. The Task Force commissioned three systematic reviews and used the best available evidence from other published systematic reviews and individual studies. Consensus Process: The Task Force achieved consensus through one group meeting, several conference calls, and numerous e-mail communications. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Conclusions: Treatment of Cushing's syndrome is essential to reduce mortality and associated comorbidities. Effective treatment includes the normalization of cortisol levels or action. It also includes the normalization of comorbidities via directly treating the cause of Cushing's syndrome and by adjunctive treatments (eg, antihypertensives). Surgical resection of the causal lesion(s) is generally the first-line approach. The choice of second-line treatments, including medication, bilateral adrenalectomy, and radiation therapy (for corticotrope tumors), must be individualized to each patient. PMID:26222757

  18. Network Analysis Reveals Distinct Clinical Syndromes Underlying Acute Mountain Sickness

    PubMed Central

    Hall, David P.; MacCormick, Ian J. C.; Phythian-Adams, Alex T.; Rzechorzek, Nina M.; Hope-Jones, David; Cosens, Sorrel; Jackson, Stewart; Bates, Matthew G. D.; Collier, David J.; Hume, David A.; Freeman, Thomas; Thompson, A. A. Roger; Baillie, John Kenneth

    2014-01-01

    Acute mountain sickness (AMS) is a common problem among visitors at high altitude, and may progress to life-threatening pulmonary and cerebral oedema in a minority of cases. International consensus defines AMS as a constellation of subjective, non-specific symptoms. Specifically, headache, sleep disturbance, fatigue and dizziness are given equal diagnostic weighting. Different pathophysiological mechanisms are now thought to underlie headache and sleep disturbance during acute exposure to high altitude. Hence, these symptoms may not belong together as a single syndrome. Using a novel visual analogue scale (VAS), we sought to undertake a systematic exploration of the symptomatology of AMS using an unbiased, data-driven approach originally designed for analysis of gene expression. Symptom scores were collected from 292 subjects during 1110 subject-days at altitudes between 3650 m and 5200 m on Apex expeditions to Bolivia and Kilimanjaro. Three distinct patterns of symptoms were consistently identified. Although fatigue is a ubiquitous finding, sleep disturbance and headache are each commonly reported without the other. The commonest pattern of symptoms was sleep disturbance and fatigue, with little or no headache. In subjects reporting severe headache, 40% did not report sleep disturbance. Sleep disturbance correlates poorly with other symptoms of AMS (Mean Spearman correlation 0.25). These results challenge the accepted paradigm that AMS is a single disease process and describe at least two distinct syndromes following acute ascent to high altitude. This approach to analysing symptom patterns has potential utility in other clinical syndromes. PMID:24465370

  19. [Constitutional syndrome: clinical entity or a mixed bag].

    PubMed

    Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar

    2013-01-01

    Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

  20. [General anesthesia in Cohen syndrome. Report of a clinical case].

    PubMed

    Cavaliere, F; Cormaci, S; Cormaci, M; Alberti, A

    1995-04-01

    The case of a 23 years old woman, affected by the Cohen syndrome, who underwent general anesthesia for extensive dental surgery, is reported. The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and limb anomalies. The problems the anesthesiologist could deal with include the capacity of the patient to cooperate; difficult intubation because of maxillary hypoplasia, micrognathia, narrow and high-arched palate, and prominent maxillary central incisors; generalized muscular hypotonia; moderate leukopenia, that could theoretically increase the risk of infection: and, finally, possible associated mitral valve prolapse or hiatus hernia. In the case reported the presence of mitral valve prolapse or hiatus hernia was ruled out echographically. The patient was premedicated with diazepam and atropine i.m.; general anesthesia was carried out by propofol-fentanyl association and myorelaxation was obtained with atracurium. Nasotracheal intubation was performed easily in spite of oral anomalies so that the usefulness of thyromental distance, which was 7 cm long, as a clinical test to evaluate a potentially difficult intubation was confirmed. Noteworthy, the thyromental distance was the only test which was suitable for the uncooperative patient. At the end of surgery muscular tone recovered promptly and the endotracheal tube could be regularly removed. No complication was registered postoperatively.

  1. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

    PubMed

    Cohen, M M

    1993-02-01

    Steven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant inheritance with complete penetrance is characteristic of the 7 familial instances. Variable expressivity has involved mostly the presence or absence of syndactyly and the degree of syndactyly when present. Classic Pfeiffer syndrome is designated type I. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet together with ankylosis of the elbows. Such patients do poorly with an early death. All reported instances to date have been sporadic. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe in degree and the anterior cranial base is markedly short. These patients also do poorly and tend to have an early death. To date all cases have occurred sporadically. Although these 3 clinical subtypes do not have status as separate entities, their diagnostic and prognostic implications are important. Type 1 is commonly associated with normal intelligence, generally good outcome, and can be found dominantly inherited in some families. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death, and sporadic occurrence. Recognition of type 3 is particularly important because extreme ocular proptosis in the absence of cloverleaf skull but with various visceral anomalies can result in failure to diagnose Pfeiffer syndrome and labeling the patient as an "unknown" or as a "newly recognized entity."(ABSTRACT TRUNCATED AT 250 WORDS)

  2. [Endogenous heparin-like syndrome: analysis of clinical observations].

    PubMed

    Bulanov, A Iu; Iatskov, K V; Shulutko, E M; Glukhova, T E; Andreĭchenko, S A

    2012-01-01

    One of the reasons for non-surgical bleeding is heparin-like syndrome (HLS), under which is understanded presence of heparin effect in the absence of it's exogenous application. The role of endogenous heparins perform glycosaminoglycans -- biologically active substances. HLS is accompanied by endothelium damage and discussed in the network of the systemic inflammatory response syndrome (SIRS). HLS is described in liver future, sepsis, pregnancy and a number of hemoblastosis. Hypocoagulation effect of endogenous heparin localizates in X coagulation factor. The main method of diagnosis - thromboelastography. The use of a specific heparin antidote - Protamine sulfate has not confirmed clinical efficacy. Priority direction in the therapy of - methods of "shunt hemostasis". In this paper, we present the analysis of observations of 4 patients with developed endogenous HLS. In 2 cases (combination of sepsis with hepatic failure in one patient and initial thrombophilia in other) HLS has been accompanied by massive bleeding (massive hemothoraxc with haemorrhagic shock, a massive intraoperative blood loss). For HLS relief in these cases was used prothrombine complex concentrate (PCC) (in the 1st case), recombinant VIIa factor (in the 2nd case). In other cases, HLS (in a patient with multiple myeloma and childbirth in the postpartum period), haemorrhagic syndrome was not so expressed, the treatment was carried out with FFP transfusion.

  3. Severe congenital thrombocytopaenia – first clinical manifestation of Noonan syndrome

    PubMed Central

    Nunes, Paula; Aguilar, Sara; Prado, Sara Noéme; Palaré, Maria João; Ferrão, Anabela; Morais, Anabela

    2012-01-01

    This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks of gestation. The newborn was admitted during the neonatal period with bleeding diathesis associated with a low platelet count at birth (5×109/l).The authors registered a persistent low platelet count (9000–129 000/l) during the infants 1st year of life. Physical examination revealed a petechial rash, a dysmorphic face and bilateral cryptorchidism, in the absence of organomegaly. Additionally, cardiologic evaluation revealed an aortic valve dysplasia and an atrial septal defect, while bone marrow biopsy and aspiration were found normal. Throughout the investigation, the authors excluded congenital infection, alloimmune and familiar thrombocytopaenia, Fanconi anaemia and thrombocytopaenia absent radius syndrome. The cytogenetic analysis revealed a mutation in the PTPN11 gene associated with Noonan syndrome. Here the author highlights that severe neonatal thrombocytopaenia is a manifestation that should be considered in the diagnosis and clinical management of Noonan’s syndrome. PMID:22605701

  4. Network analysis reveals distinct clinical syndromes underlying acute mountain sickness.

    PubMed

    Hall, David P; MacCormick, Ian J C; Phythian-Adams, Alex T; Rzechorzek, Nina M; Hope-Jones, David; Cosens, Sorrel; Jackson, Stewart; Bates, Matthew G D; Collier, David J; Hume, David A; Freeman, Thomas; Thompson, A A Roger; Baillie, John Kenneth

    2014-01-01

    Acute mountain sickness (AMS) is a common problem among visitors at high altitude, and may progress to life-threatening pulmonary and cerebral oedema in a minority of cases. International consensus defines AMS as a constellation of subjective, non-specific symptoms. Specifically, headache, sleep disturbance, fatigue and dizziness are given equal diagnostic weighting. Different pathophysiological mechanisms are now thought to underlie headache and sleep disturbance during acute exposure to high altitude. Hence, these symptoms may not belong together as a single syndrome. Using a novel visual analogue scale (VAS), we sought to undertake a systematic exploration of the symptomatology of AMS using an unbiased, data-driven approach originally designed for analysis of gene expression. Symptom scores were collected from 292 subjects during 1110 subject-days at altitudes between 3650 m and 5200 m on Apex expeditions to Bolivia and Kilimanjaro. Three distinct patterns of symptoms were consistently identified. Although fatigue is a ubiquitous finding, sleep disturbance and headache are each commonly reported without the other. The commonest pattern of symptoms was sleep disturbance and fatigue, with little or no headache. In subjects reporting severe headache, 40% did not report sleep disturbance. Sleep disturbance correlates poorly with other symptoms of AMS (Mean Spearman correlation 0.25). These results challenge the accepted paradigm that AMS is a single disease process and describe at least two distinct syndromes following acute ascent to high altitude. This approach to analysing symptom patterns has potential utility in other clinical syndromes.

  5. Clinical and genetic characteristics for the Urofacial Syndrome (UFS)

    PubMed Central

    Tu, Yaqin; Yang, Ping; Yang, Jia; Xu, Yuchen; Xiong, Fei; Yu, Qilin; Gu, Weikuan; Pond, Dinel; Mendelsohn, Nancy; Lachmeijer, Guus AMA; Zhang, Shu; Wang, Cong-Yi

    2014-01-01

    The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain or sadness when they tried to smile or laugh) along with urinary tract infection, enuresis, vesicoureteral reflux and hydronephrosis without any underlying neurological lesion and previous urinary obstruction. Some patients are also noted with nocturnal lagophthalmos. Until 2010, HPSE2, the gene encodes Heparanse 2 on chromosome 10, was thought to be the only culprit gene for this syndrome. However, another criminal gene, LRIG2, which encodes leucine-rich repeats and immunoglobulin-like domains 2, was also come into the light in 2012. Studies for dissecting the biological functions of HPSE2 and LRIG2 in urinary abnormalities are ongoing. In this minireview, we will update the discovery of novel clinical manifestations relevant to this syndrome and discuss with focus for the impact of HPSE2 on voiding dysfunction. PMID:24966895

  6. Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome.

    PubMed

    Nunes, Paula; Aguilar, Sara; Prado, Sara Noéme; Palaré, Maria João; Ferrão, Anabela; Morais, Anabela

    2012-03-20

    This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks of gestation. The newborn was admitted during the neonatal period with bleeding diathesis associated with a low platelet count at birth (5×10(9)/l).The authors registered a persistent low platelet count (9000-129 000/l) during the infants 1st year of life. Physical examination revealed a petechial rash, a dysmorphic face and bilateral cryptorchidism, in the absence of organomegaly. Additionally, cardiologic evaluation revealed an aortic valve dysplasia and an atrial septal defect, while bone marrow biopsy and aspiration were found normal. Throughout the investigation, the authors excluded congenital infection, alloimmune and familiar thrombocytopaenia, Fanconi anaemia and thrombocytopaenia absent radius syndrome. The cytogenetic analysis revealed a mutation in the PTPN11 gene associated with Noonan syndrome. Here the author highlights that severe neonatal thrombocytopaenia is a manifestation that should be considered in the diagnosis and clinical management of Noonan's syndrome.

  7. Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function.

    PubMed

    Vignozzi, L; Corona, G; Forti, G; Jannini, E A; Maggi, M

    2010-06-01

    Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. The classical phenotype of KS is widely recognized, but many affected subjects present only very mild signs. While the association between KS and infertility has been well documented, few studies have investigated sexual function in the KS patients. In the present paper we reviewed studies addressed to emotional processing and sexual function in KS. We searched the following databases Medline, Pubmed, Embase, for Klinefelter's syndrome, sexuality. We focus on the peculiar contribution of genetic and hormonal background, which characterizes sexual dysfunction in KS. Abnormal structure and function of the emotional brain circuits have been described in KS. These alterations were less pronounced when the patients underwent to testosterone replacement therapy suggesting that they were mediated by testosterone deficiency. Accordingly, clinical studies indicate that sexual dysfunctions, eventually present in KS, are not specifically associated with the syndrome but are related to the underlying hypogonadism. In conclusion, androgen deficiency more than chromosomal abnormality is the major pathogenic factor of sexual dysfunction in KS.

  8. Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature.

    PubMed

    Luna, Paula C; Pannizardi, Anabel A; Martin, Carolina I; Vigovich, Felix; Casas, José G; Larralde, Margarita

    2016-05-01

    Papular epidermal nevus with skyline basal cell layer (PENS) is a recently described type of epidermal nevus with characteristic histopathologic findings, mainly regular, rectangular acanthosis and a well-demarcated basal cell layer with clear palisading and separation between basal cell nuclei and the first row of Malpighian cell nuclei. Although the first reports described randomly distributed lesions appearing sporadically in otherwise healthy patients, cases of Blaschkoid distribution, lesions associated with extracutaneous manifestations, and familial cases have been reported. We performed a review of the clinical charts of all patients with histologic diagnosis of PENS in our hospital. We evaluated epidemiologic, clinical, and histologic features. We then reviewed the literature with a particular emphasis on the presence or absence of extra-cutaneous associations. Three patients with PENS are described. One had a single lesion, one had three lesions, and one, a patient with mild developmental delay, a curved penis, and hypospadias, had multiple lesions. The probability of having extracutaneous manifestations is 6.3 times as great in individuals with more than four lesions. Therefore these patients may need closer follow-up. © 2016 Wiley Periodicals, Inc.

  9. Malignant melanoma arising in the setting of epidermolysis bullosa simplex: an important distinction from epidermolysis bullosa nevus.

    PubMed

    Hocker, Thomas L; Fox, Matthew C; Kozlow, Jeffrey H; Gonzalez, Joseph V; Shwayder, Tor A; Lowe, Lori; Chan, May P

    2013-10-01

    Patients with epidermolysis bullosa (EB) do not carry a significantly increased risk of melanoma but are prone to developing large, markedly atypical melanocytic nevi (EB nevi), which may mimic melanoma clinically and histologically. Many authors now favor a conservative approach in managing atypical pigmented lesions in patients with EB. We present the case of a 30-year-old woman with severe EB simplex who sought care for a large red and black ulcerated plaque. The clinical differential diagnosis included EB nevus and melanoma. An incisional punch biopsy specimen revealed an atypical melanocytic proliferation with focal florid pagetoid spread and involving elongated rete ridges, consistent with invasive acral lentiginous melanoma. The subsequent amputation was confirmatory. Micrometastasis was detected in 1 of 5 sentinel lymph nodes. To our knowledge, this is the first reported case of melanoma arising in EB simplex-affected skin. It highlights the difficulty in differentiating melanoma from an EB nevus. Despite the increasing awareness of EB nevi, a high index of suspicion for melanoma should be maintained, and early biopsy is recommended when evaluating large pigmented lesions in patients with EB.

  10. Compartment syndrome after total knee arthroplasty: regarding a clinical case.

    PubMed

    Pinheiro, Ana Alexandra da Costa; Marques, Pedro Miguel Dantas Costa; Sá, Pedro Miguel Gomes; Oliveira, Carolina Fernandes; da Silva, Bruno Pombo Ferreira; de Sousa, Cristina Maria Varino

    2015-01-01

    Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  11. Compartment syndrome after total knee arthroplasty: regarding a clinical case☆

    PubMed Central

    Pinheiro, Ana Alexandra da Costa; Marques, Pedro Miguel Dantas Costa; Sá, Pedro Miguel Gomes; Oliveira, Carolina Fernandes; da Silva, Bruno Pombo Ferreira; de Sousa, Cristina Maria Varino

    2015-01-01

    Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury. PMID:26401507

  12. Primary orbital melanoma combined with giant divided nevus of the eyelid.

    PubMed

    Ke, Yifeng; Ren, Xinjun; Zhu, Liming; Hao, Rui; Song, Wenjin; Liu, Xun; He, Yanjin

    2014-01-01

    The authors report a rare case of primary orbital melanoma (POM) combined with giant divided nevus of the eyelid. An 8-year-old Chinese girl is referred for evaluation of 2-month duration of exophthalmos with decreased vision, epiphora, and pain on her right eye. His presentation, imaging, biopsy, histopathology, and management are presented. The possible cellular origin of the POM and the relationship of POM and divided nevus are discussed. We presume that divided nevus may be one of rarely preexisting lesions of POM.

  13. A similar local immune and oxidative stress phenotype in vitiligo and halo nevus.

    PubMed

    Yang, Yuqi; Li, Shuli; Zhu, Guannan; Zhang, Qian; Wang, Gang; Gao, Tianwen; Li, Chunying; Wang, Lin; Jian, Zhe

    2017-07-01

    Vitiligo and halo nevus are two common T-cell-mediated skin disorders. Although autoimmunity has been suggested to be involved in both diseases, the relationship between vitiligo and halo nevus is not fully understood. The aim of the current study was to investigate whether vitiligo and halo nevus share the same immunological and oxidative stress response. Infiltrations of T cells, and expressions of chemokine receptors (CXCR3, CCR4, CCR5) and cytotoxic markers (Granzyme B, Perforin) in the lesions of vitiligo and halo nevus were examined by immunohistochemistry. Enzyme-linked immunosorbent assay was performed to analyze the expressions of chemokines in the serum samples and cytotoxic markers secreted by CD8(+) T cells which were sorted from the peripheral blood mononuclear cells in healthy donors, vitiligo and halo nevus patients. Tissue levels of chemokine receptors and CXCR3 ligands in healthy controls, vitiligo patients and halo nevus patients were determined by qRT-PCR analysis. The percentages of CXCR3(+) CD4(+) T and CXCR3(+) CD8(+) T cells from the peripheral blood samples were examined by flow cytometry. Tissue and serum hydrogen peroxide (H2O2) concentrations were measured using H2O2 assay kit. Immunohistochemistry revealed a significant T-cell response, with pronounced dermal infiltrates of CD8(+) T cells in vitiligo and halo nevus. The inflammatory cytotoxic markers such as Granzyme B and Perforin were also elevated in vitiligo and halo nevus, suggesting inflammatory responses in situ. By qRT-PCR and ELISA assay, we found significantly increased expressions of the chemokine receptor CXCR3 and its ligands, especially the accumulated CXCL10 in the skin lesions of vitiligo and halo nevus. Moreover, the level of H2O2, a key player involved in regulation of the immune response was significantly upregulated in the skin lesions of vitiligo and halo nevus. In addition, the increased H2O2 concentration correlated positively with CXCL10 level in skin lesions of

  14. [Clinical and pathological study of 47 cases with Alport syndrome].

    PubMed

    He, Xu; Liu, Guang-ling; Xia, Zheng-kun; Ren, Xian-guo; Gao, Yuan-fu; Fan, Zhong-min; Fu, Yuan-feng; Fu, Jie; Gao, Chun-lin; Mao, Song; Chen, Rong

    2008-12-01

    To analyze the clinical and pathological features of children with Alport syndrome (AS). A series of 47 patients with AS from unrelated families hospitalized from Jan. 1990 to Jan. 2007 were involved in this study. The clinical and histopathological data were collected and analyzed. Of the 47 cases, 32 were male and 15 female, M/F: 2.1:1. The patient's age ranged from 15 months to 13 years, mean 9 years. Thirty-nine of the 47 cases had positive family history, X-linked dominant inheritance AS was diagnosed in 37 cases, autosomal recessive inheritance AS in 2 cases. Gross hematuria or microscopic hematuria were found in 59.3% of the cases as the first manifestations, while 29.8% showed edema or proteinuria. The major clinical manifestations were isolated hematuria (23.4%), hematuria and proteinuria (36.2%), nephrotic syndrome (29.8%), and renal failure (10.6%). Hematuria and proteinuria existed in all the cases, while only 7 to 13 years children had nephrotic syndrome and renal failure. Of the 47 patients, 33 (70.2%) showed mesangial proliferative glomerulonephritis (MsPGN) under the light microscope, 13 (27.6%) focal segmental glomerulosclerosis (FSGS), 1 (2.1%) membrane proliferative glomerulonephritis (MPGN). For immunofluorescence, there was IgM (40.4%) as the dominant deposition in 19 patients, IgA in 9 (19.1%), IgG in 9 (19.1%), and 10 (21.4%) were negative. Thirty-nine cases showed typical glomerular basement membrane (GBM) pathological changes under electron microscope, while thin basement membrane in 8 cases; 46 showed abnormal skin and/or renal alpha-chain distribution. For Alport syndrome, number of male patients was higher than that of female patients. There was a significant difference among different age groups. Hematuria might be present throughout the course, while urine protein increases gradually. MsPGN was the dominant pathological change. The GBM pathological changes in younger children is not typical, so the immunofluorescence test of alpha

  15. X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

    PubMed

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

    2015-06-01

    X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management.

  16. Brugada Syndrome: Clinical, Genetic, Molecular, Cellular, and Ionic Aspects.

    PubMed

    Antzelevitch, Charles; Patocskai, Bence

    2016-01-01

    Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome first described as a new clinical entity in 1992. Electrocardiographically characterized by distinct coved type ST segment elevation in the right-precordial leads, the syndrome is associated with a high risk for sudden cardiac death in young adults, and less frequently in infants and children. The electrocardiographic manifestations of BrS are often concealed and may be unmasked or aggravated by sodium channel blockers, a febrile state, vagotonic agents, as well as by tricyclic and tetracyclic antidepressants. An implantable cardioverter defibrillator is the most widely accepted approach to therapy. Pharmacologic therapy is designed to produce an inward shift in the balance of currents active during the early phases of the right ventricular action potential (AP) and can be used to abort electrical storms or as an adjunct or alternative to device therapy when use of an implantable cardioverter defibrillator is not possible. Isoproterenol, cilostazol, and milrinone boost calcium channel current and drugs like quinidine, bepridil, and the Chinese herb extract Wenxin Keli inhibit the transient outward current, acting to diminish the AP notch and thus to suppress the substrate and trigger for ventricular tachycardia or fibrillation. Radiofrequency ablation of the right ventricular outflow tract epicardium of patients with BrS has recently been shown to reduce arrhythmia vulnerability and the electrocardiographic manifestation of the disease, presumably by destroying the cells with more prominent AP notch. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of BrS as well as the approach to therapy.

  17. Brugada Syndrome. Clinical, Genetic, Molecular, Cellular and Ionic Aspects

    PubMed Central

    Antzelevitch, Charles; Patocskai, Bence

    2015-01-01

    The Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome first described as a new clinical entity in 1992. Electrocardiographically characterized by distinct coved type ST segment elevation in the right precordial leads, the syndrome is associated with a high risk for sudden cardiac death in young adults, and less frequently in infants and children. The ECG manifestations of the BrS are often concealed and may be unmasked or aggravated by sodium channel blockers, a febrile state, vagotonic agents, as well as by tricyclic and tetracyclic antidepressants. An implantable cardioverter defibrillator (ICD) is the most widely accepted approach to therapy. Pharmacological therapy is designed to produce an inward shift in the balance of currents active during the early phases of the right ventricular action potential and can be used to abort electrical storms or as an adjunct or alternative to device therapy when use of an ICD is not possible. Isoproterenol, cilostazol and milrinone boost calcium channel current and drugs like quinidine, bepridil and the Chinese herb extract Wenxin Keli inhibit the transient outward current, acting to diminish the action potential (AP) notch and thus to suppress the substrate and trigger for VT/VF. Radiofrequency ablation of the right ventricular outflow tract epicardium of BrS patients has recently been shown to reduce arrhythmia-vulnerability and the ECG-manifestation of the disease, presumably by destroying the cells with more prominent AP notch. This review provides an overview of the clinical, genetic, molecular and cellular aspects of the BrS as well as the approach to therapy. PMID:26671757

  18. Incidence, pathophysiology, and clinical manifestations of antiphospholipid syndrome.

    PubMed

    Brock, Clifton O'neill; Brohl, Andrew Scott; Običan, Sarah Gloria

    2015-09-01

    Antiphospholipid syndrome (APLS) is a complex systemic disease with a wide variety of clinical manifestations. In the obstetric population, recurrent early pregnancy loss, fetal loss, and thrombosis are hallmarks of the disease. Patients with APLS have developed one or more pathogenic auto-antibodies directed against plasma and cell surface proteins. These antibodies are characterized by their affinity for anionic phospholipids. Interactions between APLS antibodies and their protein targets influence a wide variety of biological systems and signaling pathways, including monocytes, platelets, the complement system, and endothelial cells. While much research is currently directed at understanding the mechanisms involved in this autoimmune disease, the key clinical presentation is the hypercoagulable state resulting in thrombosis occurring in essentially any arterial or venous location, as well as numerous obstetrical complications. Treatment of APLS is generally directed at preventing thrombosis and poor pregnancy outcomes by ameliorating the hypercoagulable state.

  19. The subcoracoid impingement syndrome: clinical, semeiologic and therapeutic considerations.

    PubMed

    Russo, R; Togo, F

    1991-09-01

    Subcoracoid impingement is a relatively obscure syndrome. Guided by studies conducted by Gerber and Patte since 1985, the authors began to select cases of periarticular disease of the shoulder in which there was clinical evidence of involvement of the subcoracoid space. These patients underwent repeated clinical examination, radiographic examination according to Bernageau, CT scan, and Arthro-CT. All patients were tested with a novocaine infiltration into the subcoracoid space. This paper contains a precise diagnostic protocol that has evolved from the studies conducted by Gerber and Patte. Of the 23 patients selected, 3 were advised to undergo surgical widening of the subcoracoid space, consisting of resection of the coracoacromial and coracohumeral ligaments and special, reductive coracoidplasty.

  20. Severe Acute Respiratory Syndrome: Clinical Outcome and Prognostic Correlates1

    PubMed Central

    Kwok, Man Leung; Yuen, Hon; Lai, Sik To

    2003-01-01

    Severe acute respiratory syndrome (SARS) poses a major threat to the health of people worldwide. We performed a retrospective case series analysis to assess clinical outcome and identify pretreatment prognostic correlates of SARS, managed under a standardized treatment protocol. We studied 127 male and 196 female patients with a mean age of 41±14 (range 18–83). All patients, except two, received ribavirin and steroid combination therapy. In 115 (36%) patients, the course of disease was limited. Pneumonitis progressed rapidly in the remaining patients. Sixty-seven (21%) patients required intensive care, and 42 (13%) required ventilator support. Advanced age, high admission neutrophil count, and high initial lactate dehydrogenase level were independent correlates of an adverse clinical outcome. SARS-associated coronavirus caused severe illnesses in most patients, despite early treatment with ribavirin and steroid. This study has identified three independent pretreatment prognostic correlates. PMID:14519241

  1. Neuroretinitis: a clinical syndrome of cat-scratch disease.

    PubMed

    Rost Monahan S

    2000-12-01

    Cat-scratch disease is usually a benign self-limited illness, characterized by regional lymphadenopathy lasting between 3 and 6 weeks. The causative organism is Bartonella henselae, a small gram-negative rod. Between 1 and 2% of patients who contract the illness experience blurred vision, metamorphopsia and scotomas as a result of neuroretinitis, an associated clinical syndrome. The classical clinical findings in cat-scratch neuroretinitis include disc edema and a stellate pattern of exudates in the macula. However, a myriad of other signs has been documented, suggesting a much wider spectrum of intra-ocular disease. The following case report presents a young patient with neuroretinitis, and a history of lymphadenopathy secondary to cat-scratch disease.

  2. Neonatal abstinence syndrome clinical practice guidelines for Ontario.

    PubMed

    Dow, Kimberly; Ordean, Alice; Murphy-Oikonen, Jodie; Pereira, Jodie; Koren, Gideon; Roukema, Henry; Selby, Peter; Turner, Ruth

    2012-01-01

    Ontario's clinical practice guidelines for neonatal abstinence syndrome (NAS) provide evidence-informed recommendations that address the needs of substance using pregnant women and newborns at risk of NAS. NAS is a complex and multifaceted issue that is escalating along with rapidly rising opioid use in Ontario. Reducing the incidence and impact of NAS requires immediate action in order to improve the care of affected women and infants. This includes optimizing and standardizing treatment strategies, assessing and managing social risk, better monitoring of prescribing practices and facilitating the implementation of better treatment and prevention strategies as they become available. These clinical practice guidelines provide the framework to inform and support the development of a coordinated strategy to address this important issue and to promote safe and effective care.

  3. Clinical outcomes of management of myofacial pain dysfunction syndrome.

    PubMed

    Khatun, S; Huq, M Z; Islam, M A; Uddin, M W; Asaduzzaman, M; Hossain, M M

    2012-04-01

    The purpose of the present study was to investigate two years clinical outcome of patients having myofacial pain dysfunction syndrome (MPDS). A total of 50 patients (male: 15, Female: 35, age: raged from 20 to 65 years) were included for this study. Clinical diagnosis for the assessment of anxiety and depression of each patient was performed by Hospital anxiety and depression (HAD) scale. Patients were then received either one of the following treatments: Occlusion correction only (n=14), Muscle Relaxant + anti-depressant drug (n=26), Physiotherapy + antidepressant drug + muscle relaxant (n=6) and Appliance + muscle relaxant (n= 4). Following two years observation, it was revealed that the treatment was apparently successful in 95% case; only 5% case was not successful due to their irregular visit. It can be concluded that MPDS is not primarily related to occlusal factors and a complex psycho physiological mechanism is involved in this type of pain problems.

  4. Diabetes in Cushing syndrome: basic and clinical aspects.

    PubMed

    Mazziotti, Gherardo; Gazzaruso, Carmine; Giustina, Andrea

    2011-12-01

    Diabetes mellitus is a frequent complication of Cushing syndrome (CS) which is caused by chronic exposure to glucocorticoid excess, either endogenous or exogenous, and that is characterized by several clinical symptoms such as central obesity, purple striae, proximal muscle weakness, acne, hirsutism and neuropsychological disturbances. Diabetes occurs as a consequence of an insulin-resistant state together with impaired insulin secretion which are induced by glucocorticoid excess. The management of patients with CS and diabetes mellitus includes the treatment of hyperglycemia and, when possible, the correction of glucocorticoid excess. This review focuses on the disorders of glucose metabolism in patients exposed to glucocorticoid excess, addressing both the pathophysiological aspects and the clinical and therapeutic implications.

  5. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes

    SciTech Connect

    Farrer, L.A.; Hoth, C.; Arnos, K.S.; Asher, J.H. Jr.; Friedman, T.B.; Grundfast, K.M.; Lalwani, A.K.; Greenberg, J.; Diehl, S.R.

    1994-10-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. 59 refs., 3 figs., 5 tabs.

  6. [Clinical features of osteoarthritis in patients with metabolic syndrome].

    PubMed

    Vasilyeva, L V; Lakhin, D I

    To estimate clinical and laboratory parameters in patients with osteoarthritis (OA) and in those with OA and metabolic syndrome (MS). 164 patients with OA were examined and divided into 2 groups of 82 people: a study group (patients with MS) and a control one (those without MS). OA was defined according to the diagnostic criteria described by R.D. Althmann (1995). MS was identified based on the criteria developed by the International Diabetes Federation (2005). The location of affected and swollen joints was determined according to the Richie index; the intensity of pain syndrome was measured by a visual analogue scale at rest and on movement; the WOMAC and Lequesne indexes were estimated in the patients. Erythrocyte sedimentation rate and C-reactive protein and tumor necrosis factor-α levels were determined from laboratory data. In the MS group, the frequency of joint injuries at various sites, the prevalence of synovitis, and the intensity of pain and inflammation were significantly higher than in the non-MS group. The negative impact of MS on the clinical picture of OA can be inferred by the findings.

  7. Tourette syndrome: clinical and psychological aspects of 250 cases.

    PubMed

    Comings, D E; Comings, B G

    1985-05-01

    Tourette syndrome is a common hereditary neuropsychiatric disorder consisting of multiple tics and vocal noises. We summarize here clinical aspects of 250 consecutive cases seen over a period of 3 years. The sex ratio was four males to one female, and the mean age of onset was 6.9 years. Only 10% were Jewish, indicating that it is not more prevalent in Ashkenazi Jews. Only 33% had compulsive swearing (coprolalia), indicating that this is not necessary for the diagnosis. The most frequent initial symptoms were rapid eye-blinking, facial grimacing, and throat-clearing. In this series, it was clear that Tourette syndrome is a psychiatric as well as a neurological disorder. Significant discipline problems and/or problems with anger and violence occurred in 61%, and 54% had attention-deficit disorder with hyperactivity. Some degree of exhibitionism was present in 15.9% of males and 6.1% of females. Obsessive-compulsive behavior was seen in 32%. Other than tics and vocal noises, the most common parental complaints were of short temper and everything being a confrontation. There were no significant clinical differences between familial and sporadic cases. Whenever a child presents with a learning disorder, attention-deficit disorder, or significant discipline or emotional problems, the parents should be questioned about the presence of tics or vocal noises in the patient and other family members.

  8. Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes

    PubMed Central

    Farrer, Lindsay A.; Arnos, Kathleen S.; Asher, James H.; Baldwin, Clinton T.; Diehl, Scott R.; Friedman, Thomas B.; Greenberg, Jacquie; Grundfast, Kenneth M.; Hoth, Christopher; Lalwani, Anil K.; Landa, Barbara; Leverton, Kate; Milunsky, Aubrey; Morell, Robert; Nance, Walter E.; Newton, Valerie; Ramesar, Rajkumar; Rao, Valluri S.; Reynolds, Jennifer E.; Agustin, Theresa B. San; Wilcox, Edward R.; Winship, Ingrid; Read, Andrew P.

    1994-01-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between −2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. ImagesFigure 1 PMID:7942851

  9. Tourette syndrome: clinical and psychological aspects of 250 cases.

    PubMed Central

    Comings, D E; Comings, B G

    1985-01-01

    Tourette syndrome is a common hereditary neuropsychiatric disorder consisting of multiple tics and vocal noises. We summarize here clinical aspects of 250 consecutive cases seen over a period of 3 years. The sex ratio was four males to one female, and the mean age of onset was 6.9 years. Only 10% were Jewish, indicating that it is not more prevalent in Ashkenazi Jews. Only 33% had compulsive swearing (coprolalia), indicating that this is not necessary for the diagnosis. The most frequent initial symptoms were rapid eye-blinking, facial grimacing, and throat-clearing. In this series, it was clear that Tourette syndrome is a psychiatric as well as a neurological disorder. Significant discipline problems and/or problems with anger and violence occurred in 61%, and 54% had attention-deficit disorder with hyperactivity. Some degree of exhibitionism was present in 15.9% of males and 6.1% of females. Obsessive-compulsive behavior was seen in 32%. Other than tics and vocal noises, the most common parental complaints were of short temper and everything being a confrontation. There were no significant clinical differences between familial and sporadic cases. Whenever a child presents with a learning disorder, attention-deficit disorder, or significant discipline or emotional problems, the parents should be questioned about the presence of tics or vocal noises in the patient and other family members. PMID:3859204

  10. [Clinical, immunological, and electrophysiological matching in Raynaud's syndrome].

    PubMed

    Gerasimova, M M; Cherdyntsev, M G

    2005-01-01

    Detailed description of Raynaud's syndrome (RS) dates back to the 19th century; nevertheless, this problem is still topical because of high prevalence of the syndrome (4 to 5% of population), and the fact that different specialists have to deal with it. The authors of the article studied clinical, immunological, and electrophysiological peculiarities of 103 patients with RS, both primary and secondary one. The examination included measurement of the level of antibodies to nerve growth factor (NGF) and myeline basic protein (MBP) and electroneuromyography. All the subjects displayed significant elevation of serum titer of MBP and NGF antibodies, and lowered peripheral nerve impulse conduction velocity (ICV). There was a direct correlation between antibody titer and the severity of the disease, and inverse correlation between ICV of sensory nervous fibers and the severity of the disease. Thus, RS is almost always associated with peripheral sensory fiber pathology, whose clinical manifestation consists in demyelinating polyneuropathy of autoimmune origin; the more prominent demyelinization, the higher the degree of disease severity.

  11. Clinical and Molecular Characterization of Prader-Willi Syndrome.

    PubMed

    Sanjeeva, G N; Maganthi, Madhuri; Kodishala, Himabindu; Marol, Rohit Kumar R; Kulshreshtha, Pooja S; Lorenzetto, Elisa; Kadandale, Jayarama S; Hladnik, Uros; Raghupathy, P; Bhat, Meenakshi

    2017-06-29

    To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis. At diagnosis, the most common clinical features included obesity (59%) and short stature (53%). Distinct dysmorphic features were observed in 67%. Neonatal hypotonia with feeding difficulty, delayed development in infancy and childhood behavioral problems were reported in 94%, 94% and 74% respectively. Food seeking behavior and hyperphagia was reported in 67%. Seizures were reported in 47%. All children had underdeveloped external genitalia. Growth hormone (GH) deficiency and impaired glucose tolerance were found in 56% and 50% respectively. Sleep related problems were seen in 67%. Skin and rectal picking were reported in 67%. FISH confirmed micro-deletion was found in 64.7% and abnormal methylation in 35%, of which uniparental disomy was confirmed in 14.7%. Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.

  12. [Clinical features and comorbidities of Asperger syndrome in children].

    PubMed

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong

    2013-09-01

    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  13. Prevalence and clinical correlates of explosive outbursts in Tourette syndrome.

    PubMed

    Chen, Kevin; Budman, Cathy L; Diego Herrera, Luis; Witkin, Joanna E; Weiss, Nicholas T; Lowe, Thomas L; Freimer, Nelson B; Reus, Victor I; Mathews, Carol A

    2013-02-28

    The aim of this study was to examine the prevalence and clinical correlates of explosive outbursts in two large samples of individuals with Tourette syndrome (TS), including one collected primarily from non-clinical sources. Participants included 218 TS-affected individuals who were part of a genetic study (N=104 from Costa Rica (CR) and N=114 from the US). The relationships between explosive outbursts and comorbid attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), tic severity, and prenatal and perinatal complications were examined using regression analyses. Twenty percent of participants had explosive outbursts, with no significant differences in prevalence between the CR (non-clinical) and the US (primarily clinical) samples. In the overall sample, ADHD, greater tic severity, and lower age of tic onset were strongly associated with explosive outbursts. ADHD, prenatal exposure to tobacco, and male gender were significantly associated with explosive outbursts in the US sample. Lower age of onset and greater severity of tics were significantly associated with explosive outbursts in the CR sample. This study confirms previous studies that suggest that clinically significant explosive outbursts are common in TS and associated with ADHD and tic severity. An additional potential risk factor, prenatal exposure to tobacco, was also identified.

  14. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study

    PubMed Central

    Halbach, Nicky; Julu, Peter; Witt‐Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F.; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-01-01

    Many studies have attempted to establish the genotype–phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well‐defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype–phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non‐invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence‐based management in RTT. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. PMID:27354166

  15. Epithelioid melanocytic nevus with tubule and pseudoacini formation.

    PubMed

    Uhlenhake, Elizabeth E; Smoller, Bruce R; Gardner, Jerad M; Shalin, Sara C

    2015-03-01

    A 26-year-old female presented with a 7 mm irritated pink-red papule on the left posterior shoulder. A shave biopsy revealed a dermal proliferation of epithelioid cells arranged in small nests with central lumen-like structures resembling glands set in a densely sclerotic stroma. S100 and Melanoma antigen recognized by T cells 1 (MART-1) immunohistochemical positivity confirmed a dermal melanocytic neoplasm. Pan-cytokeratin and cytokeratin 7 were negative within the nests ruling out an adnexal neoplasm or metastatic adenocarcinoma. A Spitz nevus variant characterized by the presence of focal tubular structures (tubular epithelioid cell nevus) has rarely been described in the literature and is of uncertain biological significance. Similar structures have also been observed in Clark/dysplastic nevi and melanoma. Glandular differentiation is seen in a wide variety of benign and malignant epithelial neoplasms; however, melanocytes are not known to be capable of forming true glands. The exact mechanism and significance of this phenomenon are currently unknown. Certain postulations include central melanocyte apoptosis, autocrine or paracrine factor secretion or retraction artifact caused by tissue fixation. This distinctive finding is important to recognize in order to avoid misdiagnosis as a glandular neoplasm.

  16. [Vascular nevus. A study of its frequency, types and course].

    PubMed

    Tincopa Wong, O; Meléndez Guevara, G; Peláez Gutiérrez, R; Sánchez Aznaran, N; Paolo Razuri, C

    1990-01-01

    It is presented a prospective study of vascular nevus during a year, with the finality to know its frequency, types and evolution. In twelve months of study, we founded in 1,485 borns that 14.14% presented those lesiones salmon stain 86%, oport wine 1.35%, capilar hemangioma or in strawberry the 10.81%, cavernous hemangioma the 0.45% and mixed hemangioma the 1.35%. Where more frequent in females that in males as well as from the urban zone in almost more than the half of the cases. Dimensions were between 0 to 5 cm. range, 98% in salmon stain, 95% in strawberry hemangioma, 66.3% mixed hemangioma, 66.6% in oport wine stain distributed in the head in more proportion. There was salmon stain in the nape in 61.7%, 15% in the forehead and in the superior eyelids 14.3%. The familiar antecedents of vascular nevus in brothers was of 4.76%, 5.71% in uncle, 2.98% in parents and 1.43% in grandparents. The evolution was not concluded because of desertion in almost the totality of patients, finalizing with only the 6.66%. Our findings are different from those published in the literature. The total frequency is more in our experience in salmon, oport wine stains and hemangiomas.

  17. Macrophage Activation Syndrome: different mechanisms leading to a one clinical syndrome.

    PubMed

    Bracaglia, Claudia; Prencipe, Giusi; De Benedetti, Fabrizio

    2017-01-17

    Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease in childhood, particularly in systemic Juvenile Idiopathic Arthritis (sJIA). It is characterize by an uncontrolled activation and proliferation of T lymphocytes and macrophages. MAS is currently classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH). The reason is that MAS shares clinical and laboratory features with primary genetic HLH (pHLH). In this context is conceivable that some of the pathogenic mechanisms of pHLH may be involved in other forms of HLH. Heterozygosity for mutations of genes involved in pHLH may lead to a cytotoxic defect and to a development of clinical overt disease. But other different contributors might be involved to the development of MAS such as infections or underlying inflammation. In MAS, the inflammatory status of the patient is a major contributor of the disease. Indeed, the majority of the MAS episodes occurs during active disease phases or at disease onset. In addition, recent evidence in animals and humans suggest that genetics may also play a major role in contributing to hyperinflammation and particularly to macrophages hyper-responses. We hypothesize that HLH may be one unique clinical syndrome, to whose generation different mechanisms may contribute, and maintained by one final effector mechanism.

  18. Reversible Cerebral Vasoconstriction Syndrome, Part 1: Epidemiology, Pathogenesis, and Clinical Course.

    PubMed

    Miller, T R; Shivashankar, R; Mossa-Basha, M; Gandhi, D

    2015-08-01

    Reversible cerebral vasoconstriction syndrome is a clinical and radiologic syndrome that represents a common presentation of a diverse group of disorders. The syndrome is characterized by thunderclap headache and reversible vasoconstriction of cerebral arteries, which can either be spontaneous or related to an exogenous trigger. The pathophysiology of reversible cerebral vasoconstriction syndrome is unknown, though alterations in cerebral vascular tone are thought to be a key underlying mechanism. The syndrome typically follows a benign course; however, reversible cerebral vasoconstriction syndrome may result in permanent disability or death in a small minority of patients secondary to complications such as ischemic stroke or intracranial hemorrhage. © 2015 by American Journal of Neuroradiology.

  19. [Definition and application of clinical-mimetic research in animal models with syndromes of Chinese medicine].

    PubMed

    Liu, Jian-xun; Li, Xin-zhi; Ren, Jian-xun

    2008-07-01

    On the base of reviewing the current literatures concerning the animal models with syndromes of Chinese medicine and investigating thee present state of the syndrome models, the authors have put forward a definition that research of animal models with the syndromes of Chinese medicine should be combined with clinical methods, and commented the potential application. Further it was suggested that clinical methods should be used in the exploration of scientific principles and the progresses on syndromes of Chinese medicine. In addition, intervene and evaluation of Chinese herbal medicine in animal model with integrated diseases and syndromes should be emphasized to establish a platform with special properties of TCM.

  20. Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.

    PubMed

    Volz, Kevin R; Kanner, Christopher D; Evans, Julie; Evans, Kevin D

    2016-09-01

    Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. We present a series of 5 cases of suspected KTS, while emphasizing the difficulties in distinguishing KTS from Parkes-Weber syndrome without diagnostic imaging and underscoring the importance of accurately classifying patients with the appropriate syndrome.

  1. Molecular and Clinical Findings in Patients With Knobloch Syndrome.

    PubMed

    Hull, Sarah; Arno, Gavin; Ku, Cristy A; Ge, Zhongqi; Waseem, Naushin; Chandra, Aman; Webster, Andrew R; Robson, Anthony G; Michaelides, Michel; Weleber, Richard G; Davagnanam, Indran; Chen, Rui; Holder, Graham E; Pennesi, Mark E; Moore, Anthony T

    2016-07-01

    Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported electrophysiologic data, and some key clinical features have yet to be described. To expand on current clinical, electrophysiologic, and molecular genetic findings in Knobloch syndrome. Twelve patients from 7 families underwent full ophthalmic examination and retinal imaging. Further investigations included electroretinography and neuroradiologic imaging. Bidirectional Sanger sequencing of COL18A1 was performed with segregation on available relatives. The study was conducted from July 4, 2013, to October 5, 2015. Data analysis was performed from May 20, 2014, to November 3, 2015. Results of ophthalmic and neuroradiologic assessment and sequence analysis of COL18A1. Of the 12 patients (6 males; mean age at last review, 16 years [range, 2-38 years]), all had high myopia in at least 1 eye and severely reduced vision. A sibling pair had unilateral high myopia in their right eyes and near emmetropia in their left eyes from infancy. Anterior segment abnormalities included absent iris crypts, iris transillumination, lens subluxation, and cataract. Two patients with iris transillumination had glaucoma. Fundus characteristics included abnormal collapsed vitreous, macular atrophy, and a tesselated fundus. Five patients had previous retinal detachment. Electroretinography revealed a cone-rod pattern of dysfunction in 8 patients, was severely reduced or undetectable in 2 patients, and demonstrated cone-rod dysfunction in 1 eye with undetectable responses in the other eye in 2 patients. Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, minor occipital changes in 2 patients, and no abnormalities in 2 patients. Cutaneous scalp changes were present in 5 patients

  2. Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

    PubMed

    Lewis, I; Pairman, J; Spickett, G; Newton, J L

    2013-05-01

    A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P < 0.0001), less fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

  3. Prevalence and clinical correlates of metabolic syndrome in Nigerians living with human immunodeficiency virus/acquired immunodeficiency syndrome.

    PubMed

    Ayodele, Olugbenga Edward; Akinboro, Adeolu Oludayo; Akinyemi, Suliat Omolola; Adepeju, Akinlawon Adetiloye; Akinremi, Oluwaseun Akinsanmi; Alao, Christiana Adeola; Popoola, Adetoun Adedayo

    2012-10-01

    Sub-Saharan Africa bears an inordinate burden of human immunodeficiency virus (HIV) infection/acquired immune deficiency syndrome (AIDS). Reports have shown increased prevalence of clustering of cardiovascular risk factors referred to as metabolic syndrome in treatment-naïve patients and patients on highly active antiretroviral therapy (HAART). In view of the fact that metabolic syndrome is a heterogeneous disorder with substantial variability in the prevalence and component traits within and across populations and the dearth of publications on the prevalence and clinical correlates of metabolic syndrome in people living with HIV/AIDS (PLWHA) in Nigeria, this study was carried out to determine the prevalence and clinical correlates of metabolic syndrome among an HIV-infected outpatient population using the National Cholesterol Education Adult Treatment Panel III (NCEP ATP III), the International Diabetes Federation (IDF), and the Joint Interim Statement (JIS) definitions. We also sought to determine if HAART use and CD4 count level were associated with metabolic syndrome. This cross-sectional study involved 291 (95 men, 196 women) consecutive PLWHA. Anthropometry, blood pressure, fasting plasma glucose, and lipid profile values were determined. The prevalence rates of metabolic syndrome according to the ATP III, IDF, and JIS criteria were 12.7%, 17.2%, and 21.0%, respectively. Metabolic syndrome was significantly associated with female gender (all definitions), body mass index (all definitions), increasing age, and CD4 count (IDF definition). There was no significant association between metabolic syndrome and HAART. The concordance [kappa coefficient (κ)] between the definitions of metabolic syndrome varied between 0.583 and 0.878. The prevalence of metabolic syndrome varied with the criteria used and metabolic syndrome correlates with traditional cardiovascular risk factors rather than HAART-related factors.

  4. Outcome Measures for Clinical Trials in Fragile X Syndrome

    PubMed Central

    Berry-Kravis, Elizabeth; Hessl, David; Abbeduto, Leonard; Reiss, Allan L.; Beckel-Mitchener, Andrea; Urv, Tiina K.

    2013-01-01

    Objective Progress in basic neuroscience has led to identification of molecular targets for treatment in fragile X syndrome (FXS) and other neurodevelopmental disorders, however, there is a gap in translation to targeted therapies in humans. One major obstacle to the demonstration of efficacy in human trials has been the lack of generally accepted endpoints to assess improvement in function in individuals with FXS. To address this problem, the NIH convened a meeting of leading scientists and clinicians with the goal of identifying and standardizing outcome measures for use as potential endpoints in clinical trials in FXS. Methods Participants in the meeting included FXS experts, experts in the design and implementation of clinical trials and measure development, and representatives from advocacy groups, industry, and federal agencies. Results The group generated recommendations for optimal outcome measures in cognitive, behavioral, and biomarker/medical domains, including additional testing and validation of existing measures, and development of new measures in areas of need. Although no one endpoint or set of endpoints could be identified that met all criteria as an optimal measure, recommendations are presented in this report. Conclusion The report is expected to guide the selection of measures in clinical trials and lead to the use of a more consistent battery of measures across trials. Further, this will help to direct research toward gaps in the development of validated FXS-specific outcome measures, and to assist with interpretation of clinical trial data by creating templates for measurement of treatment efficacy. PMID:24042082

  5. [Clinical characteristics of drug hypersensitivity syndrome in 10 patients].

    PubMed

    Shu, Chang; Qu, Tao; Jia, Li; Shu, Dan; Chen, Dian; Yan, Cuiyan; Zhao, Wenling; Ren, Rongxin; Sun, Qiuning

    2014-08-13

    To characterize the clinical characteristics of drug hypersensitivity syndrome (DHS). The clinical characteristics of 10 DHS patients admitted into our hospital were analyzed retrospectively. And the occurrence patterns of DHS were summarized. There were 4 males and 6 females with an age range of 17 to 66 years. Suspected drugs were anticonvulsants (n = 5), allopurinol (n = 2), antibiotics (n = 1), acetaminophen (n = 1) and unknown (n = 1). All cases developed skin rashes with fever within 14 to 60 days (n = 10). Lymphadenopathy was observed (n = 6). Morbilliform eruption was most common skin rash (n = 6); facial swelling was also appeared (n = 7). Eosinophilia was observed in all cases (n = 10). Liver involvement was common (n = 9). Autoimmune antibodies abnormality was uncommon; viral infection was complication in several cases. Glucocorticoids were applied in all cases (n = 10), 3 severe cases were administrated with intravenous immunoglobulin (IVIg). The clinical outcomes included discharging with recovery (n = 7), later diagnosed of non-Hodgkin lymphoma (n = 2) and in-hospital death (n = 1). The clinical manifestations of DHS are complicated. And the common reactive drugs include anticonvulsants, allopurinol, antiinflammatory drugs and antibiotics. Some cases may be misdiagnosed and long-term follow-ups are required.

  6. Clinical utility of lenalidomide in the treatment of myelodysplastic syndromes

    PubMed Central

    Abou Zahr, Abdallah; Saad Aldin, Ehab; Komrokji, Rami S; Zeidan, Amer M

    2015-01-01

    Myelodysplastic syndromes (MDS) represent a heterogeneous group of acquired clonal hematopoietic disorders characterized by peripheral blood cytopenias, paradoxical BM hypercellularity, ineffective hematopoiesis, and increased risk of leukemic transformation. Risk stratification, using different prognostic scores and markers, is at the core of MDS management. Deletion 5q [del(5q)] MDS is a distinct class of MDS characterized by the haploinsufficiency of specific genes, microRNAs, and proteins, which has been linked to increased sensitivity to the drug lenalidomide. Phase II and III clinical trials have demonstrated the efficacy of lenalidomide in improving clinical outcomes of patients with del(5q) MDS, including reduction in red blood cell transfusion requirements and improvements in quality of life. Lenalidomide has also demonstrated some activity in non-del(5q) lower-risk MDS as well as higher-risk MDS, especially in combination with other agents. In this paper, we review the pathogenesis of del(5q) MDS, the proposed mechanisms of action of lenalidomide, the major clinical trials that documented the activity of lenalidomide in different MDS populations, potential predictors of benefit from the drug and suggested mechanisms of resistance, and the use of combination strategies to expand the clinical utility of lenalidomide in MDS. PMID:25565910

  7. [Clinical and endocrinological findings of bitches with ovarian cyst syndrome].

    PubMed

    Bostedt, H; Jung, C; Wehrend, A; Boryzcko, Z

    2013-10-01

    Aim of this study was to record the clinical findings in bitches with ovarian cyst syndrome (OCS) and to interpret them in connection with the endocrine status in peripheral blood and in cyst liquid. For our investigation 16 bitches of different breeds with an average age of 9.7 years were used. They have been presented to the clinic due to different gynecological symptoms. The leading symptom was in 87.5 % of the cases a chronic vaginal secretion. In addition to a detailed anamnesis a clinical examination was performed including vaginalcytologic, sonographic, hematologic and hormonal findings (progesterone P4, 17β estradiol E2). As basic diagnoses could be made: Cycle aberrations (n = 8), pyometra endometritis complex (n = 4), vaginal tumor (n = 4). In addition 3 patients were presented with alopecia. All patients were ovariohysterectomized without prior conservative treatment and the ovaries histologically examined and classified. Based on sonographic findings before and macroscopic evaluation the ovaries after surgery, the OCS could be divided into an oligocystic and polycystic syndrome. There were predominating (94 %) follicle theca cysts. The formation of cysts on the ovary was in the vast majority (66.7 %) combined with corpora lutea. The endometrium showed mainly (50 %) a glandular cystic hyperplasia (CHE) and the hematologic examination revealed in 31.2 % of the patients a combination of advanced erythropenia and thrombocytopenia. Generally there was no direct relationship between increased P4 and E2 values in the pooled cyst fluid and in the peripheral blood when the oestrous phase was considered. Based on present data the diagnosis of OCS of the bitch by means of peripheral P4 and E2 values is not possible.

  8. Fragile X syndrome: a review of clinical and molecular diagnoses.

    PubMed

    Ciaccio, Claudia; Fontana, Laura; Milani, Donatella; Tabano, Silvia; Miozzo, Monica; Esposito, Susanna

    2017-04-19

    Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures. FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms. The clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden.

  9. Unilateral Open-Angle Glaucoma Associated with the Ipsilateral Nevus of Ota

    PubMed Central

    2013-01-01

    The nevus of Ota also known as “congenital melanosis bulbi” and “oculodermal melanocytosis” is a blue-gray hyperpigmentation that occurs on the face and eyes. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma). Women are nearly five times more likely to be affected than men. It is rare among Caucasian people. The nevus of Ota is congenital or acquired. Most cases of the nevus of Ota are unilateral (90%), although pigmentation is present bilaterally in 5%–10%. Ocular abnormalities included pigmentation of the sclera, cornea, retina, and optic disc and cavernous hemangiomas of the optic disc, elevated intraocular pressure, glaucoma, and ocular melanoma. We reported an appearance of unilateral glaucoma in a Caucasian female patient with the acquired, ipsilateral nevus of Ota. PMID:23781367

  10. Development of Six Tumors in a Sebaceus Nevus of Jadassohn: Report of a Case

    PubMed Central

    Gozel, Serap; Donmez, Melahat; Akdur, Noyan Can

    2013-01-01

    Nevus sebaceus of Jadassohn is a congenital cutaneous hamartoma comprised of multiple skin structures. It has the potential to develop into variety of neoplasms of various epidermal adnexal origins. While multiple tumors may occasionally arise, it is unusual for more than four tumors to arise simultaneously within a single sebaceus nevus. Here in, we report a case of a 70-year-old woman with six neoplastic proliferations including a syringocystadenoma papilliferum, pigmented trichoblastoma, tubular apocrine adenoma, sebaceoma, tumors of follicular infundibulum and superficial epithelioma with sebaceus differentiation arising in a long standing nevus sebaceus on the scalp. Our case is extraordinary because a single nevus sebaceus contained six neoplastic proliferations with differentiation toward the folliculosebaceous-apocrine unit. PMID:24421851

  11. Cephalometric Predictors of Clinical Severity in Treacher Collins Syndrome.

    PubMed

    Esenlik, Elcin; Plana, Natalie M; Grayson, Barry H; Flores, Roberto L

    2017-08-08

    The aim of this study is to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins Syndrome (TCS). A retrospective single-institutional review of patients with TCS was conducted. Pre-operative cephalograms and computed tomography scans (n=30) were evaluated. 50 cephalometric measurements were compared to age-specific normative data using ANOVA. These cephalometric measurements and the patient's Pruzansky classification were correlated to clinical severity using Spearman analysis. Clinical severity was defined as: severe (required tracheostomy), moderate (obstructive sleep apnea, oral cleft, or gastrostomy-tube), or mild (absence of listed co-morbidities). Cephalometric measurements with a strong correlation (rs>0.60) were identified as predictors of clinical severity. Cephalograms of the study population contained thirty measurements that were found to be significantly different from normative data (p<0.01). These measurements were largely related to maxillary/mandibular projection, maxillary/mandibular plane angle, mandibular morphology, facial height, facial convexity and mandible/throat position. Ten of these 30 statistically significant measurements in addition to Pruzansky classification were found to be strongly correlated (rs>.60) to clinical severity. These measurements include: Mandibular projection/position [Sella-Nasion-Pogonion (SN-Pg) rs=-0.64; Hyoid-Menton (Hy-Me) rs=-0.62]; Posterior facial height [Posterior Facial Height/Anterior Facial Height (PFH/AFH) rs=0.60; Condyle-Gonion (Co-Go) rs=-0.66]; Maxillary/mandibular plane angle [Sella-Nasion-Mandibular Plane (SN-MP) rs=0.62; Frankfort Horizontal-Mandibular Plane (FH-MP) rs=0.61; Sella-Nasion-Palatal Plane (SN-PP) rs=0.69; Sella-Nasion-Symphysis (SN-Symph) rs=-0.69; Pruzansky classification rs=0.82. Specific cephalometric measurements of increased mandibular retrognathia, decreased posterior facial height, more obtuse maxillary/mandibular plane angle

  12. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

    PubMed

    Singh, Michael N; Lacro, Ronald V

    2016-01-01

    Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of β-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either β-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of β-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy.

  13. [Clinical and myopathological features of Jo-1 syndrome].

    PubMed

    Meng, L C; Li, Y; Zhang, W; Hao, H J; Gao, F; Yuan, Y

    2016-08-02

    To report the clinical and myopathological features of 16 patients with Jo-1 syndrome. Sixteen patients were recruited in this study, who were diagnosed as Jo-1 syndrome in Department of Neurology of Peking University First Hospital from January, 2011 to July, 2015. The clinical data and myopathological data were analyzed. The mean onset age was 41±14 (21-68) years old. 87.5% was female. The median duration was 9.5 months (1-192 months). The main clinical manifestations were weakness in 13 cases (81.2%), arthritis in 10 cases (62.5%), interstitial lung diseases in 8 cases (50%), dermatomyositis-like skin lesions in 5 cases (31.2%), fever in 3 cases (18.8%), Raynaud's phenomenon in 2 cases (12.5%) and mechanic's hands in 2 cases (12.5%). There were 3 cases with other connective tissue diseases and 1 case with non-Hodgkin's lymphoma. Mean serum CK was 3 054±2 058(470-5 222) U/L. All patients had anti-Jo-1antibody, combined with anti- Mi-2 antibody in 1 case, anti-Ro-52 antibody in 5 cases, and anti-nuclear antibody in 5 cases. 4/5 cases showed myopathic changes for electromyography (EMG) tests. Myopathological changes included edema, fragmentation and inflammatory infiltration in perimysium in 14 cases (87.5%), muscle atrophy in 13 cases including 7 cases(43.8%) predominantly in perifascicular field. Muscle fiber necrosis appeared in 8 cases with predominantly in perifascicular area in 4 cases (25%). Muscle fiber regeneration occurred in 11 cases with predominantly in perifascicular field in 5 cases (31.2%). CD8 positive T-lymphocytes, CD20 positive B-lymphocytes and CD68 positive macrophages infiltrated in various degrees, most of which were located in perimysium. MHC-Ⅰ were expressed on muscle fiber membranes in different degrees, including 7 cases (43.8%) predominantly in the cytoplasm of perifascicular muscle fibers. C5b-9 deposited in perifascicular muscle fiber membranes in 7 cases (43.8%) and perifascicular capillaries in 2 cases (12.5%). The main

  14. Extensive nevus comedonicus involving the palm: questionable role of the pilosebaceous unit in pathogenesis.

    PubMed

    Ganjoo, Shikhar; Mohanan, Saritha; Kumari, Rashmi; Thappa, Devinder M; Rajesh, Nachiappa G

    2014-01-01

    A 10-year-old boy had multiple grouped pits with black plugs arranged along the lines of Blaschko on his left chest, arm, and palm. Involvement of the palms is rarely reported in the literature. Recent reports have described mosaic acneiform conditions that could share pathogenetic mechanisms with nevus comedonicus. We briefly review the literature on mosaic conditions with acneiform lesions including nevus comedonicus.

  15. Rapidly growing pigmented tumor on a scalp nevus sebaceous of a pediatric patient: Observation or excision.

    PubMed

    Gaitan-Gaona, Francisco; Said, Mirra C; Galvan-Linares, Aldo; Palafox-Vigil, Gloria; Valdes-Rodriguez, Rodrigo

    2014-07-15

    A 14-year-old girl presented with a new, rapidly growing, pigmented tumor on a previously existing yellowish, verrucous plaque on the scalp. The patient received complete surgical excision. Routine histology ruled out basal cell carcinoma (BCC) and the histological diagnosis was pigmented trichoblastoma arising in nevus sebaceous (NS). It is important to define management for new lesions developing in pediatric patients with existing nevus sebaceus.

  16. Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

    PubMed

    Tambasco, Nicola; Belcastro, Vincenzo; Prontera, Paolo; Nigro, Pasquale; Donti, Emilio; Rossi, Aroldo; Calabresi, Paolo

    2014-07-01

    Shapiro Syndrome (SS) is a rare condition of spontaneous periodic hypothermia, corpus callosum agenesis (ACC) and hyperhidrosis which can occur at any age. The variant form refers to the phenotypic SS without ACC. We reported the case of SS variant on a 4-year-old boy who presented from his first year frequent episodes of hypothermia lasting 2-3 h with core rectal temperatures <35 °C. In order to understand the characteristics of this rare syndrome we searched all the cases present in literature. Fifty-two cases of SS were found in literature. Among all clinical signs, paroxysmal hypothermia seems to be the hallmark of both typical and variant SS. ACC is reported only in 40% of cases of SS. Hyperhidrosis, another hallmark of SS, was present in only 42.3% of the cases and mainly in adult onset. The presence of SS in siblings of different genders suggests an autosomal recessive inheritance model, however a gonadic mosaicism responsible for an autosomal de novo mutation cannot be ruled out. From our review of well documented cases of SS, we conclude that only the episodic and spontaneous paroxysmal hypothermia should be considered the defining hallmark of typical and variant SS. This can be important to define the clinical manifestation of SS improving the early diagnosis.

  17. [Clinical practice guideline 'Complex regional pain syndrome type I'].

    PubMed

    Perez, R S G M; Zollinger, P E; Dijkstra, P U; Thomassen-Hilgersom, I L; Zuurmond, W W A; Rosenbrand, C J G M; Geertzen, J H B

    2007-07-28

    The development and treatment ofthe complex regional pain syndrome type I (CRPS-I) are a subject of much discussion. Using the method for the development ofevidence-based guidelines, a multidisciplinary guideline for the diagnosis and treatment of this syndrome has been drawn up. The diagnosis of CRPS-I is based on the clinical observation of signs and symptoms. For pain treatment, the WHO analgesic ladder is advised up to step z. In case of pain ofa neuropathic nature, anticonvulsants and tricyclic antidepressants may be considered. For the treatment ofinflammatory symptoms, free-radical scavengers (dimethylsulphoxide or acetylcysteine) are advised. In order to enhance peripheral blood flow, vasodilatory medication may be considered. Percutaneous sympathetic blockades may be used for a cold extremity ifvasodilatory medication produces insufficient effect. To decrease functional limitations, standardised physiotherapy and occupational therapy are advised. To prevent the occurrence of CRPS-I after wrist fractures, the use of vitamin C is recommended. Adequate perioperative analgesia, limitation of operation time and limited use of bloodlessness are advised for the secondary prevention of CRPS-I. Use of regional anaesthetic techniques can also be considered in this connection.

  18. [Clinical and biological evolution of nephrotic syndrome patients and corticotherapy].

    PubMed

    Fongoro, S; Diallo, D; Maiga, M K

    2009-01-01

    This study was aimed to follow clinical and biological data of patients presenting a nephrotic syndrom apparently primitiv, devided in two groups. The study was prospectiv including 50 patients hospitalized from January 1999 to January 2001. The first group received prednison tablets according to their body weight, and the second group received firstly a bolus of methyl prednisone to the cumulative dose of 20mg/kg divided on 3 days; relayed by the 20mg/day of prednison tablets. The Chi2 test was estimated (psyndrom was pur by 38 patients (76%), and associated in 12 patients (24%). The evolution of body weight, dieresis, and proteinuria was significativ in the two groups (p

  19. Cushing syndrome and adrenal carcinoma: a clinical case.

    PubMed

    Candela, Giancarlo; Varriale, Sergio; Manetta, Fiorenza; Di Libero, Lorenzo; Giordano, Marco; Santini, Luigi

    2009-01-01

    A 21-year-old girl arrived at our hospital with a short history of hirsutism, facial pletora, amenorrhea, progressive weight gain and hypertension. The clinically suspected Cushing syndrome was then confirmed through chemical pathology. In fact, the results from hemato-chemical exams were: 45.5 Ig/dl cortisol, a DHEA sulphate >8000 ng/ml, 7.2 pg/ml ACTH, 17OH-Progesterone 10.66 ng/ml, Delta-4 Androstenedione 5.2 ng/ml, UFC (Urine Free Cortisol) >1000 mg/24h, FSH 0.8 mUI/ml, LH < 0.1 mUI/ml, Prolactin 13, 17, estradiol 96 pg/ml, and a bonded hypokalaemia, K+ 2,4 mEq/L. The echogram of the complete abdomen reveals, near the superior pole of the left kidney, the presence of a solid mass, not independent from the pole itself about 9.5 centimetres long, diagnosis confirmed to the TC abdomen and pelvis too, with or without mdc. This removed mass resulted, from the histological exam, in an adrenal carcinoma with a general and trabecular structure. Primal adrenal tumours are responsible for about 10% of Cushing syndrome cases. They present an annual incidence of 0.5 - 2.0 cases per million of inhabitants. The prognosis of adrenal ca remains low, with 5 year survival rate for 38% of diagnosed patients.

  20. [Williams syndrome: its clinical aspects and molecular bases].

    PubMed

    Antonell, A; Del Campo, M; Flores, R; Campuzano, V; Perez-Jurado, L A

    2006-01-07

    Williams syndrome is a developmental disorder with an estimated prevalence of 1 in 7,500 newborns. Its phenotype is characterized by distinctive facial features, mild to moderate mental retardation and general cognitive deficits with a non-uniform profile, having problems in some areas (psychomotricity, visuospatial integration) and relative preservation of others (language, musicality), friendly personality, occasional hypercalcemia of infancy, and a vasculopathy with supravalvular aortic stenosis. Williams syndrome is caused by a submicroscopic deletion of 1.55 Mb in the chromosome band 7q11.23, which includes 26-28 genes. The mutational mechanism consists in a misalignment between regions of almost identical sequence and the subsequent unequal recombination. The reciprocal product of this rearrangement is the duplication of this region, causing a language specific disorder. Clinical-molecular correlations establishment through a good phenotypic characterization and the precise analysis of breakpoints in patients with atypical and typical deletions, altogether with the design of animal models and functional studies in vitro for the genes of the interval will be important to be able to determine the exact contribution of the genes to the phenotype, to know their pathogenesis and physiopathology, and to identify therapeutic methods.

  1. Zika virus congenital syndrome: experimental models and clinical aspects.

    PubMed

    Polonio, Carolina Manganeli; de Freitas, Carla Longo; Zanluqui, Nagela Ghabdan; Peron, Jean Pierre Schatzmann

    2017-01-01

    Viral infections have long been the cause of severe diseases to humans, increasing morbidity and mortality rates worldwide, either in rich or poor countries. Yellow fever virus, H1N1 virus, HIV, dengue virus, hepatitis B and C are well known threats to human health, being responsible for many million deaths annually, associated to a huge economic and social cost. In this context, a recently introduced flavivirus in South America, called Zika virus (ZIKV), led the WHO to declare in February 1st 2016 a warning on Public Health Emergency of International Concern (PHEIC). ZIKV is an arbovirus of the Flaviviridae family firstly isolated from sentinels Rhesus sp. monkeys at the Ziika forest in Uganda, Africa, in 1947. Lately, the virus has well adapted to the worldwide spread Aedes aegypti mosquito, the vector for DENV, CHIKV, YFV and many others. At first, it was not considered a threat to human health, but everything changed when a skyrocketing number of babies born with microcephaly and adults with Guillain-Barré syndrome were reported, mainly in northeastern Brazil. It is now well established that the virus is responsible for the so called congenital Zika syndrome (CZS), whose most dramatic features are microcephaly, arthrogryposis and ocular damage. Thus, in this review, we provide a brief discussion of these main clinical aspects of the CZS, correlating them with the experimental animal models described so far.

  2. Clinical manifestations and oral findings in Fraser syndrome.

    PubMed

    Diniz, Michele Baffi; Lima, Luciana Monti; Sacono, Nancy Tomoko; de Paula, Andréia Bolzan; dos Santos-Pinto, Lourdes

    2007-01-01

    This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.

  3. SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment.

    PubMed

    Firinu, Davide; Garcia-Larsen, Vanessa; Manconi, Paolo Emilio; Del Giacco, Stefano R

    2016-06-01

    SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare autoimmune disease which, due to its clinical presentation and symptoms, is often misdiagnosed and unrecognized. Its main features are prominent inflammatory cutaneous and articular manifestations. Treatments with immunosuppressive drugs have been used for the management of SAPHO with variable results. To date, the use of anti-TNF-α agents has proved to be an effective alternative to conventional treatment for unresponsive or refractory SAPHO cases. TNF-α is a pro-inflammatory cytokine and pivotal regulator of other cytokines, including IL-1 β, IL-6, and IL-8, involved in inflammation, acute-phase response induction, and chemotaxis. IL-1 inhibition strategies with anakinra have shown efficacy as first and second lines of treatment. In this review, we will describe the main characteristics of biological drugs currently used for SAPHO syndrome. We also describe some of the promising therapeutic effects of ustekinumab, an antibody against the p40 subunit of IL-12 and IL-23, after failure of multiple drugs including anti-TNF-α and anakinra. We discuss the use and impact of the new anti-IL-1 antagonists involved in the IL-17 blockade, in particular for the most difficult-to-treat SAPHO cases.

  4. Clinical findings in obligate carriers of type I Usher syndrome

    SciTech Connect

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R.

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  5. Carpal tunnel syndrome severity staging using sonographic and clinical measures.

    PubMed

    Roll, Shawn C; Volz, Kevin R; Fahy, Christine M; Evans, Kevin D

    2015-06-01

    Ultrasonography may be valuable in staging carpal tunnel syndrome severity, especially by combining multiple measures. This study aimed to develop a preliminary severity staging model using multiple sonographic and clinical measures. Measures were obtained in 104 participants. Multiple categorization structures for each variable were correlated to diagnostic severity based on nerve conduction. Goodness-of-fit was evaluated for models using iterative combinations of highly correlated variables. Using the best-fit model, a preliminary scoring system was developed, and frequency of misclassification was calculated. The severity staging model with best fit (rho 0.90) included patient-reported symptoms, functional deficits, provocative testing, nerve cross-sectional area, and nerve longitudinal appearance. An 8-point scoring scale classified severity accurately for 79.8% of participants. This severity staging model is a novel approach to carpal tunnel syndrome evaluation. Including more sensitive measures of nerve vascularity, nerve excursion, or other emerging techniques may refine this preliminary model. © 2014 Wiley Periodicals, Inc.

  6. Carpal tunnel syndrome severity staging using sonographic and clinical measures

    PubMed Central

    Roll, Shawn C.; Volz, Kevin R.; Fahy, Christine M.; Evans, Kevin D.

    2014-01-01

    Introduction Ultrasonography may be valuable in staging carpal tunnel syndrome severity, especially by combining multiple measures. This study aimed to develop a preliminary severity staging model using multiple sonographic and clinical measures. Methods Measures were obtained in 104 participants. Multiple categorization structures for each variable were correlated to diagnostic severity based on nerve conduction. Goodness-of-fit was evaluated for models using iterative combinations of highly correlated variables. Using the best-fit model, a preliminary scoring system was developed, and frequency of misclassification was calculated. Results The severity staging model with best fit (Rho 0.90) included patient-reported symptoms, functional deficits, provocative testing, nerve cross-sectional area, and nerve longitudinal appearance. An 8-point scoring scale classified severity accurately for 79.8% of participants. Discussion This severity staging model is a novel approach to carpal tunnel syndrome evaluation. Including more sensitive measures of nerve vascularity, nerve excursion, or other emerging techniques may refine this preliminary model. PMID:25287477

  7. [The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].

    PubMed

    Markova, T G; Geptner, E N; Lalayants, M R; Zelikovich, E I; Chugunova, T I; Mironovich, O L; Bliznetz, E A; Polyakov, A V; Tavartkiladze, G A

    The aim of this work was a clinical study of the patients with mutations in the SLC26A4 gene and clinical diagnosis of the Pendred syndrome. The Pendred syndrome is a hereditary autosomal recessive disorder characterized by combined pathology of the inner ear and the thyroid gland. CT of the temporal bones demonstrates the Mondini-type structural anomaly in the inner ear and enlarged vestibular aqueduct. Examination of the thyroid gland reveals hypothyroidism and euthyroid goiter. A total of 20 unrelated children at the age from 2 to 16 years presenting with the hearing loss of different severity were available for the examination. High-resolution CT of the temporal bones demonstrated abnormal development of the inner ear including the Mondini-type structural anomaly and enlarged vestibular aqueduct. Five children with congenital hypothyroidism suffered from bilateral sensorineural impairment of hearing. The routine methods of audiological and molecular genetic examination were used throughout the study. As a result of molecular genetic studies, four out of the 20 patients were found to carry six recessive mutations of the SLC26A4 gene in the compound heterozygous and one such gene in the homozygous state which confirmed the hereditary nature of the disease. The children suffered the hearing loss of varying severity diagnosed at different age. The thyroid hypofunction in one child was identified when it was 2 years of age, and in two children at the age of 8 and 9 years. The first step in the diagnosis of the Pendred syndrome among children with congenital hearing loss was a CT scan of the temporal bones that showed incomplete separation of the curls of the cochlea and enlarged vestibular aqueduct. It is necessary to continue to study epidemiology, clinical and molecular genetics of the Pendred syndrome in the Russian population.

  8. In situ malignant melanoma on nevus spilus in an elderly patient.

    PubMed

    Corradin, Maria Teresa; Giulioni, Erika; Fiorentino, Renzo; Santeufemia, Davide Adriano; Re, Giovanni Lo; Vettorello, Angelo

    2014-03-01

    Nevus spilus is the term usually given to a pigmented skin lesion, congenital or acquired, that may occur anywhere on the body, consisting of a large light tan patch with numerous superimposed darker scattered maculae or papulae that are flat or slightly raised. For a long time, nevus spilus was believed to be a benign lesion. However, in 1957 Perkinson reported a melanoma appearing on nevus spilus for the first time. Since then other reports about melanomas developing on nevus spilus have been published, sometimes with a fatal outcome. We describe the case of an 80-year-old male patient with a congenital nevus just above his left knee. The lesion had remained unchanged over time, but some months before his checkup the patient noticed a darker area in the lesion that had continued to enlarge. The lesion was removed and histological examination revealed an in situ malignant melanoma. Although nevus spilus is not normally considered a precursor of melanoma, the potentiality of malignant transformation requires regular monitoring, and careful checkups are recommended and justified.

  9. Uncommon clinical pattern of FMF: protracted febrile myalgia syndrome.

    PubMed

    Tufan, Gülnihal; Demir, Serap

    2010-06-01

    Familial Mediterranean fever (FMF) is a genetic multisystem disorder of unknown etiology characterized by recurrent episodes of fever and pain due to acute inflammation of the peritoneum, synovia, or pleura. Up to 25% of patients with FMF report muscle pain. Myalgia may be a spontaneous pattern, exercise-induced pattern, or protracted febrile myalgia syndrome (PFMS). PFMS is characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura. The episodes last for 4-6 weeks, except in those patients treated with corticosteroids. The PFMS may recur even under colchicine prophylaxis. We describe a 30-year-old pregnant Turkish woman with known FMF and under colchicine prophylaxis, with severe myalgia for 8 weeks, emphasizing the importance of a different clinical pattern of PFMS even in the absence of other symptoms.

  10. Clinical characteristics in Taiwanese women with polycystic ovary syndrome.

    PubMed

    Hsu, Ming-I

    2015-09-01

    Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age.

  11. Free amino acids in fibromyalgia syndrome: relationship with clinical picture.

    PubMed

    Ruggiero, Valeria; Mura, Massimiliano; Cacace, Enrico; Era, Benedetta; Peri, Marcella; Sanna, Giuseppina; Fais, Antonella

    2017-04-01

    The objectives of our study were to evaluate free amino acid (FAA) concentrations in the serum of patients affected by fibromyalgia syndrome (FMS) and to determine the relationships between FAA levels and FMS clinical parameters. Thus, serum amino acid concentrations were quantified (HPLC analysis) in 23 females with fibromyalgia (according to the American College of Rheumatology classification criteria) and 20 healthy females. The results showed significantly higher serum concentrations of aspartate, cysteine, glutamate, glycine, isoleucine, leucine, methionine, ornithine, phenylalanine, sarcosine, serine, taurine, tyrosine and valine in FMS patients vs. healthy controls. Patients with higher Fibromyalgia Impact Questionnaire (FIQ) scores showed increased levels of alanine, glutamine, isoleucine, leucine, phenylalanine, proline and valine. In conclusion, our results indicate an imbalance in some FAAs in FMS patients. Increased Glu is particularly interesting, as it could explain the deficit in monoaminergic transmission involved in pain.

  12. Diagnosis and clinical genetics of Cushing syndrome in pediatrics

    PubMed Central

    Stratakis, Constantine A.

    2016-01-01

    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  13. Clinical association: Lyme disease and Guillain-Barre syndrome.

    PubMed

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

    2017-07-08

    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Clinical characteristics in Taiwanese women with polycystic ovary syndrome

    PubMed Central

    2015-01-01

    Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age. PMID:26473107

  15. Restless legs syndrome: a review of clinical and pathophysiologic features.

    PubMed

    Allen, R P; Earley, C J

    2001-03-01

    Restless legs syndrome (RLS), although long ignored and still much underdiagnosed, disrupts the life and sleep considerably of those who have it. Recent clinical and basic research provides for better definition and pathophysiologic understanding of the disorder. The body of knowledge about this disorder has been expanding rapidly during the past decade and it has altered our concepts of this disorder. This review of RLS covers history, diagnosis, morbidity of sleep disturbance, relation to periodic limb movements in both sleep and waking, secondary causes, severity assessment methods, phenotypes for possible genetic patterns, epidemiology, pathophysiology, and medical treatment considerations. The emphasis on pathophysiology includes consideration of central nervous system localization, neurotransmitter and other systems involved, and the role of iron metabolism. Studies to date support the authors' recently advanced iron-dopamine model of RLS.

  16. Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations.

    PubMed

    Kaur, Tejinder; Sharma, Nidhi; Sethi, Anisha; Kooner, Shitij; Banger, Harmeet

    2015-09-17

    Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). The other patient is a 5-year-old boy with Sturge-Weber syndrome, Klippel-Trenaunay syndrome, aplasia of iliac, femoral, and popliteal veins and congenital heart disease, associated with aberrant dermal melanocytosis and melanosis oculi (also classified as PPV type IIb or phacomatosis cesioflammea). These sporadic cases display a unique constellation of additional, previously unreported systemic associations, which will further expand the clinical spectrum of phacomatosis pigmentovascularis.

  17. Progress in Rett Syndrome: from discovery to clinical trials.

    PubMed

    Percy, Alan K

    2016-09-01

    Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.

  18. Myofacial pain dysfunction syndrome: a clinical study of asymptomatic subjects.

    PubMed

    Cooper, B C; Rabuzzi, D D

    1984-01-01

    The diagnosis of myofacial pain dysfunction (MPD), commonly called temporomandibular joint syndrome, has traditionally been made on the presence of a group of clinical symptoms that produce pain and limitation of movement. The cause of this common illness has been the subject of controversy for over half a century. There has been a lack of agreement on diagnosis, a cause, and treatment. Advanced bioelectronic technology now makes an accurate diagnosis possible, based not merely on clinical symptoms, but on reproducible scientific data. A cause of MPD is discernable and reliable treatment possible, as well as long lasting resolution objectively monitorable with the Mandibular Kinesiograph (MKG 5-R) and Bioelectric Processor (EMIR). A study of mandibular movement and masticular muscle function of 26 "normal" subjects (i.e., clinically asymptomatic) revealed that the overwhelming majority did indeed have dysfunction of the muscles which move and posture the mandible. The significance of this study is twofold. First it demonstrates a valid testing procedure for measuring mandibular movement and muscle function. Second it establishes the fact that most individuals have a physical predisposition to MPD. Changes in the adaptive capacity of the neuromusculature by physical or emotional trauma could then precipitate MPD.

  19. Linking Doses with Clinical Scores of Hematopoietic Acute Radiation Syndrome.

    PubMed

    Hu, Shaowen

    2016-10-01

    In radiation accidents, determining the radiation dose the victim received is a key step for medical decision making and patient prognosis. To reconstruct and evaluate the absorbed dose, researchers have developed many physical devices and biological techniques during the last decades. However, using the physical parameter "absorbed dose" alone is not sufficient to predict the clinical development of the various organs injured in an individual patient. In operational situations for radiation accidents, medical responders need more urgently to classify the severity of the radiation injury based on the signs and symptoms of the patient. In this work, the author uses a unified hematopoietic model to describe dose-dependent dynamics of granulocytes, lymphocytes, and platelets, and the corresponding clinical grading of hematopoietic acute radiation syndrome. This approach not only visualizes the time course of the patient's probable outcome in the form of graphs but also indirectly gives information of the remaining stem and progenitor cells, which are responsible for the autologous recovery of the hematopoietic system. Because critical information on the patient's clinical evolution can be provided within a short time after exposure and only peripheral cell counts are required for the simulation, these modeling tools will be useful to assess radiation exposure and injury in human-involved radiation accident/incident scenarios.

  20. The challenges of clinical trials in fragile X syndrome.

    PubMed

    Jacquemont, Sébastien; Berry-Kravis, Elizabeth; Hagerman, Randi; von Raison, Florian; Gasparini, Fabrizio; Apostol, George; Ufer, Mike; Des Portes, Vincent; Gomez-Mancilla, Baltazar

    2014-03-01

    Advances in understanding the underlying mechanisms of conditions such as fragile X syndrome (FXS) and autism spectrum disorders have revealed heterogeneous populations. Recent trials of novel FXS therapies have highlighted several challenges including subpopulations with possibly differential therapeutic responses, the lack of specific outcome measures capturing the full range of improvements of patients with FXS, and a lack of biomarkers that can track whether a specific mechanism is responsive to a new drug and whether the response correlates with clinical improvement. We review the phenotypic heterogeneity of FXS and the implications for clinical research in FXS and other neurodevelopmental disorders. Residual levels of fragile X mental retardation protein (FMRP) expression explain in part the heterogeneity in the FXS phenotype; studies indicate a correlation with both cognitive and behavioral deficits. However, this does not fully explain the extent of phenotypic variance observed or the variability of drug response. Post hoc analyses of studies involving the selective mGluR5 antagonist mavoglurant and the GABAB agonist arbaclofen have uncovered significant therapeutic responses following patient stratification according to FMR1 promoter methylation patterns or baseline severity of social withdrawal, respectively. Future studies designed to quantify disease modification will need to develop new strategies to track changes effectively over time and in multiple symptom domains. Appropriate selection of patients and outcome measures is central to optimizing future clinical investigations of these complex disorders.

  1. Clinical and biological implications of driver mutations in myelodysplastic syndromes

    PubMed Central

    Papaemmanuil, Elli; Gerstung, Moritz; Malcovati, Luca; Tauro, Sudhir; Gundem, Gunes; Van Loo, Peter; Yoon, Chris J.; Ellis, Peter; Wedge, David C.; Pellagatti, Andrea; Shlien, Adam; Groves, Michael John; Forbes, Simon A.; Raine, Keiran; Hinton, Jon; Mudie, Laura J.; McLaren, Stuart; Hardy, Claire; Latimer, Calli; Della Porta, Matteo G.; O’Meara, Sarah; Ambaglio, Ilaria; Galli, Anna; Butler, Adam P.; Walldin, Gunilla; Teague, Jon W.; Quek, Lynn; Sternberg, Alex; Gambacorti-Passerini, Carlo; Cross, Nicholas C. P.; Green, Anthony R.; Boultwood, Jacqueline; Vyas, Paresh; Hellstrom-Lindberg, Eva; Bowen, David; Cazzola, Mario; Stratton, Michael R.

    2013-01-01

    Myelodysplastic syndromes (MDS) are a heterogeneous group of chronic hematological malignancies characterized by dysplasia, ineffective hematopoiesis and a variable risk of progression to acute myeloid leukemia. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling. We sequenced 111 genes across 738 patients with MDS or closely related neoplasms (including chronic myelomonocytic leukemia and MDS–myeloproliferative neoplasms) to explore the role of acquired mutations in MDS biology and clinical phenotype. Seventy-eight percent of patients had 1 or more oncogenic mutations. We identify complex patterns of pairwise association between genes, indicative of epistatic interactions involving components of the spliceosome machinery and epigenetic modifiers. Coupled with inferences on subclonal mutations, these data suggest a hypothesis of genetic “predestination,” in which early driver mutations, typically affecting genes involved in RNA splicing, dictate future trajectories of disease evolution with distinct clinical phenotypes. Driver mutations had equivalent prognostic significance, whether clonal or subclonal, and leukemia-free survival deteriorated steadily as numbers of driver mutations increased. Thus, analysis of oncogenic mutations in large, well-characterized cohorts of patients illustrates the interconnections between the cancer genome and disease biology, with considerable potential for clinical application. PMID:24030381

  2. Type 1 diabetes and autoimmune polyglandular syndrome: a clinical review.

    PubMed

    Van den Driessche, A; Eenkhoorn, V; Van Gaal, L; De Block, C

    2009-12-01

    Type 1 diabetes mellitus (T1DM) results from autoimmune destruction of insulin-producing beta cells and is characterised by the presence of insulitis and &and beta-cell autoantibodies. Up to one third of patients develop an autoimmune polyglandular syndrome. Fifteen to 30% of T1DM subjects have autoimmune thyroid disease (Hashimoto's or Graves' disease), 5 to 10% are diagnosed with autoimmune gastritis and/or pernicious anaemia (AIG /PA), 4 to 9% present with coeliac disease (CD), 0.5% have Addison's disease (AD), and 2 to 10% show vitiligo. These diseases are characterised by the presence of autoantibodies against thyroid peroxidase (for Hashimoto's thyroiditis), TSH receptor (for Graves' disease), parietal cell or intrinsic factor (for AIG /PA), tissue transglutaminase (for CD), and 21-hydroxylase (for AD). Early detection of antibodies and latent organ-specific dysfunction is advocated to alert physicians to take appropriate action in order to prevent full-blown disease. Hashimoto's hypothyroidism may cause weight gain, hyperlipidaemia, goitre, and may affect diabetes control, menses, and pregnancy outcome. In contrast, Graves' hyperthyroidism may induce weight loss, atrial fibrillation, heat intolerance, and ophthalmopathy. Autoimmune gastritis may manifest via iron deficiency or vitamin B12 deficiency anaemia with fatigue and painful neuropathy. Clinical features of coeliac disease include abdominal discomfort, growth abnormalities, infertility, low bone mineralisation, and iron deficiency anaemia. Adrenal insufficiency may cause vomiting, anorexia, hypoglycaemia, malaise, fatigue, muscular weakness, hyperkalaemia, hypotension, and generalised hyperpigmentation. Here we will review prevalence, pathogenetic factors, clinical features, and suggestions for screening, follow-up and treatment of patients with T1DM and/or autoimmune polyglandular syndrome.

  3. Unilateral lenticular infarcts: radiological and clinical syndromes, aetiology, and prognosis

    PubMed Central

    Giroud, M; Lemesle, M; Madinier, G; Billiar, T.; Dumas, R

    1997-01-01

    OBJECTIVES—To analyse the clinical features induced by lenticular infarction found in 20 patients, and to analyse the radiological and clinical correlations.
METHODS—Eight women and 12 men, mean age 73 years, were included in this study, which was carried out from 1 January 1994 to 30 November 1996. They were characterised by the onset of a lenticular infarction, shown by CT and MRI. A complete neurological and neurocognitive examination, and photon emission computed tomography (SPECT), were performed in all the patients and there was a long clinical follow up.
RESULTS—Two distinct clinical syndromes were identified corresponding to the two anatomical areas of the lenticular nucleus: behavioural and cognitive disorders were associated with infarcts within the globus pallidus, whereas both motor disorders (dystonia) and cognitive disorders were associated with infarcts within the putamen. Outcome was excellent in all the patients for motor function, but slight cognitive disorders, problems with short term memory, and dysphasia persisted for several months. The size of the lesion did not explain these symptoms. By contrast, the slight reduction in cerebral blood flow found in the adjacent frontotemporal area may explain them by a deafferentation or a diaschisis phenomenon.
CONCLUSION—It is possible to identify the clinical symptoms of a single lesion in the pallidus nucleus and in the putaminal nucleus, in which behavioural, cognitive, and movements disorders are important. After an acute and spectacular onset, outcome is in general excellent. A disease of the small arteries must be involved.

 PMID:9408102

  4. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    PubMed Central

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported. PMID:26622156

  5. Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

    PubMed Central

    Costa, Luisa; Atteno, Mariangela; Compagnone, Adele; Caso, Paolo; Frediani, Bruno; Galeazzi, Mauro; Punzi, Leonardo

    2013-01-01

    Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. PMID:24282415

  6. Spontaneous Involution of Congenital Melanocytic Nevus With Halo Phenomenon.

    PubMed

    Lee, Noo Ri; Chung, Hee-Chul; Hong, Hannah; Lee, Jin Wook; Ahn, Sung Ku

    2015-12-01

    Congenital melanocytic nevus (CMN) is a neural crest-derived hamartoma, which appear at or soon after birth. CMN has a dynamic course and may show variable changes over time, including spontaneous involution. Spontaneous involution of CMN is a rare phenomenon and is often reported in association with halo phenomenon or vitiligo. The mechanism of halo phenomenon is yet to be investigated but is suggested to be a destruction of melanocytes by immune responses of cytotoxic T cells or IgM autoantibodies. Here, the authors report an interesting case of spontaneously regressed medium-sized CMN with halo phenomenon and without vitiligo, which provides evidence that cytotoxic T cells account for the halo formation and pigmentary regression of CMN.

  7. Evidence-based clinical practice guidelines for irritable bowel syndrome.

    PubMed

    Fukudo, Shin; Kaneko, Hiroshi; Akiho, Hirotada; Inamori, Masahiko; Endo, Yuka; Okumura, Toshikatsu; Kanazawa, Motoyori; Kamiya, Takeshi; Sato, Ken; Chiba, Toshimi; Furuta, Kenji; Yamato, Shigeru; Arakawa, Tetsuo; Fujiyama, Yoshihide; Azuma, Takeshi; Fujimoto, Kazuma; Mine, Tetsuya; Miura, Soichiro; Kinoshita, Yoshikazu; Sugano, Kentaro; Shimosegawa, Tooru

    2015-01-01

    New strategies for the care of irritable bowel syndrome (IBS) are developing and several novel treatments have been globally produced. New methods of care should be customized geographically because each country has a specific medical system, life style, eating habit, gut microbiota, genes and so on. Several clinical guidelines for IBS have been proposed and the Japanese Society of Gastroenterology (JSGE) subsequently developed evidence-based clinical practice guidelines for IBS. Sixty-two clinical questions (CQs) comprising 1 definition, 6 epidemiology, 6 pathophysiology, 10 diagnosis, 30 treatment, 4 prognosis, and 5 complications were proposed and statements were made to answer to CQs. A diagnosis algorithm and a three-step treatment was provided for patients with chronic abdominal pain or abdominal discomfort and/or abnormal bowel movement. If more than one alarm symptom/sign, risk factor and/or routine examination is positive, colonoscopy is indicated. If all of them, or the subsequent colonoscopy, are/is negative, Rome III or compatible criteria is applied. After IBS diagnosis, step 1 therapy consisting of diet therapy, behavioral modification and gut-targeted pharmacotherapy is indicated for four weeks. Non-responders to step 1 therapy proceed to the second step that includes psychopharmacological agents and simple psychotherapy for four weeks. In the third step, for patients non-responsive to step 2 therapy, a combination of gut-targeted pharmacotherapy, psychopharmacological treatments and/or specific psychotherapy is/are indicated. Clinical guidelines and consensus for IBS treatment in Japan are well suited for Japanese IBS patients; as such, they may provide useful insight for IBS treatment in other countries around the world.

  8. Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

    PubMed

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Ostergaard, John R; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J

    2007-10-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified.

  9. Hemorrhage in posterior reversible encephalopathy syndrome: imaging and clinical features.

    PubMed

    Hefzy, H M; Bartynski, W S; Boardman, J F; Lacomis, D

    2009-08-01

    Hemorrhage is known to occur in posterior reversible encephalopathy syndrome (PRES), but the characteristics have not been analyzed in detail. The purpose of this study was to evaluate the imaging and clinical features of hemorrhage in PRES. Retrospective assessment of 151 patients with PRES was performed, and 23 patients were identified who had intracranial hemorrhage at toxicity. Hemorrhage types were identified and tabulated, including minute focal hemorrhages (<5 mm), sulcal subarachnoid hemorrhage, and focal hematoma. Clinical features of hemorrhage and nonhemorrhage PRES groups were evaluated, including toxicity blood pressure, coagulation profile/platelet counts, coagulation-altering medication, and clinical conditions associated with PRES. Toxicity mean arterial pressure (MAP) groups were defined as normal (<106 mm Hg), mildly hypertensive (106-116 mm Hg), or severely hypertensive (>116 mm Hg). The overall incidence of hemorrhage was 15.2%, with borderline statistical significance noted between the observed clinical associations (P = .07). Hemorrhage was significantly more common (P = .02) after allogeneic bone marrow transplantation (allo-BMT) than after solid-organ transplantation. The 3 hemorrhage types were noted with equal frequency. A single hemorrhage type was found in 16 patients, with multiple types noted in 7. Patients undergoing therapeutic anticoagulation were statistically more likely to develop hemorrhage (P = .04). No difference in hemorrhage incidence was found among the 3 blood pressure subgroups (range, 14.9%-15.9%). Three distinct types of hemorrhage (minute hemorrhage, sulcal subarachnoid hemorrhage, hematoma) were identified in PRES with equal frequency. The greatest hemorrhage frequency was seen after allo-BMT and in patients undergoing therapeutic anticoagulation. Hemorrhage rate was independent of the toxicity blood pressure.

  10. Usefulness of confocal microscopy in distinguishing between basal cell carcinoma and intradermal melanocytic nevus on the face.

    PubMed

    Gamo, R; Floristan, U; Pampín, A; Caro, D; Pinedo, F; López-Estebaranz, J L

    2015-10-01

    The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf-like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma.

  11. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

    PubMed

    Willatt, Lionel; Cox, James; Barber, John; Cabanas, Elisabet Dachs; Collins, Amanda; Donnai, Dian; FitzPatrick, David R; Maher, Eddy; Martin, Howard; Parnau, Josep; Pindar, Lesley; Ramsay, Jacqueline; Shaw-Smith, Charles; Sistermans, Erik A; Tettenborn, Michael; Trump, Dorothy; de Vries, Bert B A; Walker, Kate; Raymond, F Lucy

    2005-07-01

    We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation--were observed, but each feature was only found once, in a single patient. The microdeletion is approximately 1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome.

  12. Restless legs syndrome: pathophysiology, clinical presentation and management.

    PubMed

    Trenkwalder, Claudia; Paulus, Walter

    2010-06-01

    Restless legs syndrome (RLS) is a somatosensory network disorder that is clinically diagnosed according to four main criteria: an urge to move the legs, usually associated with unpleasant leg sensations; induction or exacerbation of symptoms by rest; symptom relief on activity; and diurnal fluctuations in symptoms with worsening in the evening and at night. Genetic variants in four chromosomal regions have been identified that increase the risk of RLS. In addition, various different lesions, ranging from peripheral neuropathies to spinal cord lesions or alterations of brain metabolism, are implicated in RLS. In most cases, sleep disorders with frequent sleep fragmentation and characteristic periodic limb movements during sleep can be identified during a polysomnographic recording. The first-line drugs for RLS are dopaminergic agents, which are effective in low to moderate doses. Alternative or additional treatments include opioids and anticonvulsants. Augmentation-paradoxical worsening of symptoms by dopaminergic treatment-is the main problem encountered in difficult-to-treat patients. Iron deficiency must be identified and treated by supplementation, both to improve RLS symptoms and to potentially lower the risk of augmentation. Here, we review the latest studies pertaining to the pathophysiology, clinical presentation and management of RLS.

  13. Adult Horner's syndrome: a combined clinical, pharmacological, and imaging algorithm

    PubMed Central

    Davagnanam, I; Fraser, C L; Miszkiel, K; Daniel, C S; Plant, G T

    2013-01-01

    The diagnosis of Horner's syndrome (HS) can be difficult, as patients rarely present with the classic triad of ptosis, miosis, and anhydrosis. Frequently, there are no associated symptoms to help determine or localise the underlying pathology. The onset of anisocoria may also be uncertain, with many cases referred after incidental discovery on routine optometric assessment. Although the textbooks discuss the use of cocaine, apraclonidine, and hydroxyamphetamine to diagnose and localise HS, in addition to reported false positive and negative results, these pharmacological agents are rarely available during acute assessment or in general ophthalmic departments. Typically, a week is required between using cocaine or apraclonidine for diagnosis and localisation of HS with hydroxyamphetamine, leaving the clinician with the decision of which investigations to request and with what urgency. Modern imaging modalities have advanced significantly and become more readily available since many of the established management algorithms were written. We thus propose a practical and safe combined clinical and radiological diagnostic protocol for HS that can be applied in most clinical settings. PMID:23370415

  14. Adult Horner's syndrome: a combined clinical, pharmacological, and imaging algorithm.

    PubMed

    Davagnanam, I; Fraser, C L; Miszkiel, K; Daniel, C S; Plant, G T

    2013-03-01

    The diagnosis of Horner's syndrome (HS) can be difficult, as patients rarely present with the classic triad of ptosis, miosis, and anhydrosis. Frequently, there are no associated symptoms to help determine or localise the underlying pathology. The onset of anisocoria may also be uncertain, with many cases referred after incidental discovery on routine optometric assessment. Although the textbooks discuss the use of cocaine, apraclonidine, and hydroxyamphetamine to diagnose and localise HS, in addition to reported false positive and negative results, these pharmacological agents are rarely available during acute assessment or in general ophthalmic departments. Typically, a week is required between using cocaine or apraclonidine for diagnosis and localisation of HS with hydroxyamphetamine, leaving the clinician with the decision of which investigations to request and with what urgency. Modern imaging modalities have advanced significantly and become more readily available since many of the established management algorithms were written. We thus propose a practical and safe combined clinical and radiological diagnostic protocol for HS that can be applied in most clinical settings.

  15. Neuroleptic Malignant Syndrome: A Review from a Clinically Oriented Perspective

    PubMed Central

    Tse, Lurdes; Barr, Alasdair M.; Scarapicchia, Vanessa; Vila-Rodriguez, Fidel

    2015-01-01

    Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening sideeffect that can occur in response to treatment with antipsychotic drugs. Symptoms commonly include hyperpyrexia, muscle rigidity, autonomic dysfunction and altered mental status. In the current review we provide an overview on past and current developments in understanding the causes and treatment of NMS. Studies on the epidemiological incidence of NMS are evaluated, and we provide new data from the Canada Vigilance Adverse Reaction Online database to elaborate on drug-specific and antipsychotic drug polypharmacy instances of NMS reported between 1965 and 2012. Established risk factors are summarized with an emphasis on pharmacological and environmental causes. Leading theories about the etiopathology of NMS are discussed, including the potential contribution of the impact of dopamine receptor blockade and musculoskeletal fiber toxicity. A clinical perspective is provided whereby the clinical presentation and phenomenology of NMS is detailed, while the diagnosis of NMS and its differential is expounded. Current therapeutic strategies are outlined and the role for both pharmacological and non-pharmacological treatment strategies in alleviating the symptoms of NMS are discussed. PMID:26411967

  16. Clinical features and prognostic factors of Churg-Strauss syndrome

    PubMed Central

    Kim, Mi-Yeong; Sohn, Kyoung-Hee; Song, Woo-Jung; Park, Heung-Woo; Cho, Sang-Heon; Min, Kyung-Up

    2014-01-01

    Background/Aims Churg-Strauss syndrome (CSS) is a rare systemic necrotizing small-vessel vasculitis, with accompanying bronchial asthma, eosinophilia, and eosinophilic infiltration of various tissues. The purposes of our study were to characterize the clinical features of CSS and to identify factors associated with CSS prognosis in Koreans. Methods Medical records were reviewed retrospectively for all physician-diagnosed CSS patients in the Seoul National University Hospital between January 1990 and March 2011. Results Data from 52 CSS patients were analyzed. The respiratory tract was the most commonly involved organ (90.4%). Renal involvement was less frequent in antineutrophilic cytoplasmic antibody (ANCA)(-) patients than in ANCA(+) patients (p = 0.048). Clinical remission occurred in 95.3% of patients, but 16.3% of them relapsed. Patients who maintained remission for more than 6 months were relatively older (median, 51 years) at diagnosis (p = 0.004), had been diagnosed in earlier stages (p = 0.027), showed more frequent respiratory involvement (p = 0.024) and generalized symptoms (p = 0.039), and showed less frequent cutaneous involvement (p = 0.030) than those who did not achieve persistent (> 6 months) remission. Patients who achieved persistent remission also showed higher C-reactive protein (CRP) levels (p = 0.031) than those who did not. Conclusions ANCA(-) CSS patients showed less frequent renal involvement. Characteristics of good responders were older age, diagnosis at earlier stages, less cutaneous involvement, more respiratory involvement, high CRP values, and more generalized symptoms. PMID:24574837

  17. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

    PubMed Central

    Guo, Shiyi; Huang, Jinsha; Jiang, Haiyang; Han, Chao; Li, Jie; Xu, Xiaoyun; Zhang, Guoxin; Lin, Zhicheng; Xiong, Nian; Wang, Tao

    2017-01-01

    Restless legs syndrome (RLS), a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs) in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA) system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered. PMID:28626420

  18. Cockayne syndrome: Clinical features, model systems and pathways.

    PubMed

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne; Croteau, Deborah L; Bohr, Vilhelm A

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging. Published by Elsevier B.V.

  19. The clinical syndrome of bilirubin-induced neurologic dysfunction.

    PubMed

    Bhutani, Vinod K; Johnson-Hamerman, Lois

    2015-02-01

    Clinicians have hypothesized a spectrum of minor neurologic manifestations, consistent with neuroanatomical reports and collectively termed as a "syndrome of bilirubin-induced neurologic dysfunction (BIND)," which can occur in the absence of classical kernicterus. The current review builds on these initial reports with a focus on clinical signs and symptoms that are assessed by standardized tools and manifest from neonatal age to childhood. These clinical manifestations are characterized by the following domains: (i) neuromotor signs; (ii) muscle tone abnormalities; (iii) hyperexcitable neonatal reflexes; (iv) variety of neurobehavior manifestations; (v) speech and language abnormalities; and (vi) evolving array of central processing abnormalities, such as sensorineural audiology and visuomotor dysfunctions. Concerns remain that the most vulnerable infants are likely to acquire BIND, either because their exposure to bilirubin is not identified as severe enough to need treatment or is prolonged but slightly below current threshold levels for intervention. Knowing that a total serum/plasma bilirubin (TB) level is not the most precise indicator of neurotoxicity, the role of expanded biomarkers or a "bilirubin panel" has yet to be validated in prospective studies. Future studies that correlate early "toxic" bilirubin exposure to long-term academic potential of children are needed to explore new insights into bilirubin's effect on the structural and functional maturation of an infant's neural network topology.

  20. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.

    PubMed

    Gamba, B F; Vieira, G H; Souza, D H; Monteiro, F F; Lorenzini, J J; Carvalho, D R; Morreti-Ferreira, D

    2011-10-31

    Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenetic analysis by GTG banding and molecular cytogenetic analysis by FISH. We carried out an active search for patients in Associations of Parents and Friends of Exceptional Children (APAE) of São Paulo and genetic centers in Brazil. Forty-eight patients were screened for mental retardation, craniofacial abnormalities and stereotyped behavior with a diagnosis of SMS. In seven of them, chromosome banding at high resolution demonstrated chromosome 17p11.2 deletions, confirmed by FISH. We also made a meta-analysis of 165 cases reported between 1982 and 2010 to compare with the clinical data of our sample. We demonstrated differences between the frequencies of clinical signs among the cases reported and seven Brazilian cases of this study, such as dental anomalies, strabismus, ear infections, deep hoarse voice, hearing loss, and cardiac defects. Although the gold standard for diagnosis of SMS is FISH, we found that the GTG banding technique developed to evaluate chromosome 17 can be used for the SMS diagnosis in areas where the FISH technique is not available.