Hopf, H C
Acrodermatitis chronica atrophicans is a dermatological condition that takes a chronically progressive course and finally leads to a widespread atrophy of the skin. Involvement of the peripheral nervous system is frequently observed, predominantly a sensory polyneuropathy. General reactions, the effect of penicillin treatment, the histological findings, and reports concerning a communicable agent transmittable from human to human as well in tissue cultures point to an infectious disease. Acrodermatitis chronica atrophicans follows a peculiar geographical distribution forming clusters of high prevalence in certain regions. Transmission by ticks is suggested. Images PMID:168318
Brehmer-Andersson, E; Hovmark, A; Asbrink, E
We studied 111 consecutive, untreated and serologically confirmed patients with acrodermatitis chronica atrophicans. Emphasis was on the histopathologic patterns of erythematous and fibrous lesions, and on an assay used to correlate histopathologic findings with such clinical features as fibrous nodules, ulnar bands and the pain reaction allodynia. There was a significant correlation between allodynia and signs of marked inflammation, but not between allodynia and neural and perineural cell infiltrates or fibrosis. Moreover, there was no significant correlation between serum IgG titers to Borrelia and the density of inflammatory cell infiltrates or the proportion of plasma cells in tissue. Histopathologic examination did not reveal any important differences between fibrous nodules, ulnar bands and sclerodermatous lesions. The histopathologic pattern is not diagnostic per se, but characteristic enough to alert the experienced pathologist.
Blaise, S; Fiandrino, G; Satger, B; Carpentier, P-H
Lyme disease acrodermatitis chronica atrophicans is a tertiary form of Lyme borrelliosis. It occurs at least six months, but also up to several years, after a tick bite. This rare condition is probably underestimated because of the difficult diagnosis. Clinical presentations of acrodermatitis chronic atrophicans are quite variable depending upon the duration of the disease. Complimentary explorations are difficult to interpret and rarely specific. Only rare configurations allow formal diagnosis of Borrelia burgdoferi infection. We present a patient who exhibited an atypical clinical presentation of Lyme disease acrodermatitis chronic atrophicans. The clinical outcome was quite favorable with treatment, confirming the diagnosis. Such treatments, which are well tolerated and highly effective, are essential since an untreated disease can lead to potentially severe neurological involvement.
Nistor, Nicolai; Ciontu, Lavinia; Frasinariu, Otilia-Elena; Lupu, Vasile Valeriu; Ignat, Ancuta; Streanga, Violeta
Abstract Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very few erythematous lesions on the face. Due to the numerous bacterial skin superinfections with Staphylococcus aureus, including abscesses that required surgical incision, the clinical picture was modified, leading to a delayed establishment of the diagnosis. Later, the symptoms became suggestive for this disease, the diagnostic having been confirmed by low plasma zinc values. Under zinc therapy, skin lesions improved significantly in a few days, with favorable outcome. Two months later, the skin lesions almost disappeared. Abscesses due to bacterial skin superinfections may lead to initially misdiagnosed acrodermatitis enteropathica. PMID:27196457
Papular acrodermatitis (PAC) is a fairly widespread, probably slightly infectious, nonrelapsing disease of childhood characterized by (a) papular eruption on the face and limbs lasting 20 days or more, (b) reactive reticulohistiocytic lymphadenitis, and (c) acute hepatitis, usually anicteric, which commonly lasts about 2 months. Australia antigen is always present; it is detectable 10 or more days after the onset of the skin eruption and persists from 2 months to several years. The mother of some children with PAC are found to be carriers of Au antigen, as are some sibs when tested many years later. Whether the causative agent of PAC is the same as that causing serum hepatitis, or is different, remains to be established. ImagesFIG. 1FIG. 2 PMID:4749683
... link is rarely seen in the United States. Epstein-Barr virus (EBV, mononucleosis) is the virus most often associated ... or rule out other conditions: Bilirubin level Hepatitis virus ... ( liver function tests ) Screening for EBV antibodies Skin biopsy
Meningopolyneuritis, Lyme Borreliosis, Acrodermatitis Chronica Atrophicans. INFECTIOUS AGENT: A spirochete, Borrelia burgdorferi (heterogeneity in isolates...1990. Borrelia burgdorferi (Lyme disease, Lyme borreliosis). pp. 1819-1827. In G. L. Mandell, R. G. Douglas, Jr. and J. E. Bennett (Eds...Infection is caused by Borrelia recurrentis in a person-louse-person cycle. The disease currently is endemic in the southeastern 60% of the Yugoslav
Luria, Rebecca B; Conologue, Theresa
Atrophoderma vermiculatum (AV) is a rare follicular disorder primarily affecting children with reticular or honeycomb atrophy of the cheeks and forehead. Along with keratosis pilaris atrophicans faciei (KPAF) and keratosis follicularis spinulosa decalvans (KFSD), AV falls within the broader spectrum of keratosis pilaris atrophicans (KPA). Although these 3 variants of KPA have unique presentations and associations, they can all be frustratingly difficult to treat. We describe a sporadic case of AV that presented in late adolescence, a relatively late age of onset.
Kim, You Jeong; Kim, Mi-Yeon; Kim, Hyung Ok; Lee, Myung Duck
We present here a case of acrodermatitis enteropathica-like eruption associated with essential free fatty acid and protein deficiencies as well as borderline zinc deficiency that occurred after Whipple's operation in a 31-yr-old woman. Her eruptions were improved not by zinc supplements alone, but her condition was improved by total parenteral nutrition including amino acids, albumin, lipid and zinc. Although we could not exactly decide which of the nutrients contributed the most to her manifestations, we inferred that all three elements in concert caused her dermatoses. This case shows that even though the patient's skin manifestations and laboratory results are suggestive of acrodermatitis enteropathica, the physicians should keep in mind the possibility that this disease can be associated with other nutritional deficiencies such as free fatty acid or protein deficiency. PMID:16224175
Suchithra, N; Sreejith, P; Pappachan, Joseph M; George, Josemon; Rajakumari, P K; Cheriyan, George
Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. Zinc is an essential trace element in human metabolism and acquired zinc deficiency may manifest with skin eruptions simulating acrodermatitis enteropathica. We report an unusual case of acrodermatitis enteropathica-like skin eruption due to deficiency of zinc and other nutritional factors in a patient who has undergone extensive small bowel resection and jejuno-transverse colon anastomosis for mesenteric ischemia.
Muñiz, Antonio E; Bartle, Sam; Foster, Robin
Cystic fibrosis is a genetic disorder characterized by chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Less frequently, the presenting features in infants may include edema, anemia, hypoproteinemia, and acrodermatitis enteropathica. Liver involvement may produce hepatomegaly and mild elevation of transaminases. This clinical symptom usually presents within the first 6 months of life and is associated with a high morbidity and mortality. Early recognition and institution of appropriate nutritional supplementation and pancreatic enzymes is essential to improve outcome. Since the sweat test may be falsely negative, emergency physicians must maintain a high index of suspicion to make the diagnosis of cystic fibrosis in an infant who presents with edema, anemia, hypoproteinemia, and acrodermatitis enteropathica.
Gurov, A V; Guseva, A L
Bacteria in different portions of the middle ear were studied in 68 patients with otitis media purulenta chronica (OMPC) as well as sensitivity of the bacteria to different antibacterial medicines. Microflora was followed up for a months after surgical treatment. Prevalent were Staphylococcus aureus and gram-negative flora most sensitive to defended penicillines, cephalosporins of the third generation and fluoroquinolones. Destructive changes in the temporal bone, acoustic and vestibular functions by type of the causative agent were examined.
Choi, Mira; Na, Se Young; Cho, Soyun
Low level laser or light treatment on the various clinical condition is getting considerable attention now. However, there has been no report about the clinical effect of low level polarized polychromatic noncoherent light (LPPL) on the inflammatory skin disease. We experienced a case of acrodermatitis continua in a pregnant woman refractory to any conventional treatment including the most potent topical steroid. She was successfully treated with LPPL. LPPL could be a possible treatment modality producing substantial clinical result in inflammatory skin condition without any side-effect. PMID:21394319
Lu, Ying-Yi; Liao, Jia-Bin; Wu, Chieh-Shan; Hong, Chien-Hui
Paraneoplastic dermatosis is defined as both benign skin lesions and internal malignancy existing at the same time with parallel clinical courses. Herein, we report a 91-year-old male who presented as pityriasis lichenoids chronica (PLC) concomitantly with a primary splenic diffuse large B cell lymphoma. Surgical removal of the spleen cleared his skin lesions dramatically. However, seven months later, the splenic lymphoma relapsed in concordance with the recurrence of the skin lesions of PLC. To our knowledge, he is the first case that PLC is the leading presentation and paraneoplastic manifestation of primary splenic large B-cell lymphoma.
Wang, Kun; Zhou, Bing; Kuo, Yien-Ming; Zemansky, Jason; Gitschier, Jane
The rare inherited condition acrodermatitis enteropathica (AE) results from a defect in the absorption of dietary zinc. Recently, we used homozygosity mapping in consanguineous Middle Eastern kindreds to localize the AE gene to an ∼3.5-cM region on 8q24. In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease. The gene encodes a histidine-rich protein, which we refer to as “hZIP4,” which is a member of a large family of transmembrane proteins, some of which are known to serve as zinc-uptake proteins. We show that Slc39A4 is abundantly expressed in mouse enterocytes and that the protein resides in the apical membrane of these cells. These findings suggest that the hZIP4 transporter is responsible for intestinal absorption of zinc. PMID:12032886
Wang, Kun; Zhou, Bing; Kuo, Yien-Ming; Zemansky, Jason; Gitschier, Jane
The rare inherited condition acrodermatitis enteropathica (AE) results from a defect in the absorption of dietary zinc. Recently, we used homozygosity mapping in consanguineous Middle Eastern kindreds to localize the AE gene to an approximately 3.5-cM region on 8q24. In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease. The gene encodes a histidine-rich protein, which we refer to as "hZIP4," which is a member of a large family of transmembrane proteins, some of which are known to serve as zinc-uptake proteins. We show that Slc39A4 is abundantly expressed in mouse enterocytes and that the protein resides in the apical membrane of these cells. These findings suggest that the hZIP4 transporter is responsible for intestinal absorption of zinc.
Junquera Bañares, Sonia; Oria Mundín, Eugenio; Botella-Carretero, José Ignacio
Zinc deficiency is relatively common in certain pathologies, although its clinical manifestation is uncommon. We present the case of a patient who was admitted presenting hyponatremic dehydration and pre-renal failure secondary to high-output ileostomy and oral intolerance. Although the ileostomy output was normalized within 3 days of admission and initial zinc plasma levels were normal, after being fed with TPN supplemented with 13 mg/day of zinc, he suffered a severe zinc deficit with enteropathic acrodermatitis that was completely resolved after one week with 26.5 mg/day. However, plasma levels did not return to normal until one month on therapy with high doses of zinc. Zinc plasma levels are not a good indicator of zinc stores in the body and many times their changes are a late indicator of zinc deficit. There is not a correlation between the clinical improvement and normalization of zinc levels, being common the clinical resolution within few days of the supplementation without observing an increase of zinc plasma levels.
Giraldo, Walter Alberto Sifuentes; González-García, Carmen; de las Heras Alonso, Elena; de la Puente Bujidos, Carlos
Chondrodermatitis nodularis chronica helicis is a rare non-neoplastic inflammatory and degenerative process of the external ear, characterized by necrobiotic changes in the dermis that extend down to the perichondrium. This condition has been occasionally reported in patients with limited cutaneous systemic sclerosis but not in those with concomitant primary biliary cirrhosis; this association is known as Reynolds syndrome. We report a 70-year-old woman diagnosed with primary biliary cirrhosis at age 47 and with limited cutaneous systemic sclerosis at age 54 who developed a painful ulcerated nodule on the helical rim of the left ear shortly after the last diagnosis. The lesion was excised because of the suspicion of malignancy, but the histopathology was consistent with chondrodermatitis nodularis chronica helicis. Although this condition is infrequent, it is necessary to know, because it may occur in patients with systemic sclerosis and be mistaken for neoplasms, such as basal cell and squamous cell carcinoma, and these patients have an increased risk for the development of skin malignancies. PMID:27708905
Conti, Andrea; Ciardo, Silvana; Mandel, Victor Desmond; Bigi, Laura; Pellacani, Giovanni
Noninvasive techniques for nail imaging would be useful for confirming diagnosis and monitoring treatment response at the microscopic level in patients with nail psoriasis. However, the use of ultrasound and high-resolution magnetic resonance imaging in nail evaluation is limited. Optical coherence tomography (OCT) produces high-resolution images of transversal tissue sections and represents an optimal approach to the study of the nail. This study used a multibeam OCT instrument to produce speckled variance OCT (SV-OCT) blood-flow images, which were used to measure the degree of change over successive scans. Nail changes, inflammation and response to therapy were evaluated in a 75-year-old female patient with psoriasis who had severe acrodermatitis continua of Hallopeau of the hands, treated for 4 weeks with 40 mg adalimumab (administered subcutaneously every other week) and 25 mg prednisone (administered orally, daily). SV-OCT provided a detailed assessment of the nail structures in relation to inflammation of psoriatic tissues. Restoration of the normal anatomy of the nail apparatus was apparent following adalimumab treatment; SV-OCT evaluation correlated with clinical appearance. SV-OCT may have a diagnostic role and provide an objective tool to assess clinical and subclinical inflammation in nail psoriasis.
El Bedewi, A.; El Anany, G; El Mofty, M; Kretlow, A; Park, S; Miller, L
The diagnosis of cutaneous lymphomas remains a challenge for both the clinician and dermatopathologist. To differentiate between frank malignant and premalignant lymphocytes within the skin. This study was performed on 20 patients with a mean age of 50 years. They were divided into two groups: mycosis fungoides (MF) (stage IA, IB and IIA) and pityriasis lichenoides chronica (PLC). Immunophenotyping using antibodies CD3, CD4, CD8, CD20 and CD30 was performed. Synchrotron Fourier transform infrared microspectroscopy (S-FTIRM) was performed on cell nuclei to assess chemical differences between MF and PLC cases as a potential complementary screening tool. Dermal spectra of both MF and PLC were compared using principal components analysis (PCA) of the S-FTIRM data. All PLC spectra was clustered together. However, the MF spectra formed two clusters, one that grouped with the PLC and the other grouped separately. Moreover, protein and nucleic acids showed highly significant differences between MF (IIA and IB), MF (IA) and PLC. The malignant transformation within lymphocytes was identifiable through the spectroscopic analysis of protein, RNA and DNA with S-FTIRM, making it a promising tool for classifying the progression of cutaneous T-cell lymphoma.
Kasana, Shakhenabat; Din, Jamila; Maret, Wolfgang
Discovering genetic causes of zinc deficiency has been a remarkable scientific journey. It started with the description of a rare skin disease, its treatment with various agents, the successful therapy with zinc, and the identification of mutations in a zinc transporter causing the disease. The journey continues with defining the molecular and cellular pathways that lead to the symptoms caused by zinc deficiency. Remarkably, at least two zinc transporters from separate protein families are now known to be involved in the genetics of zinc deficiency. One is ZIP4, which is involved in intestinal zinc uptake. Its mutations can cause acrodermatitis enteropathica (AE) with autosomal recessive inheritance. The other one is ZnT2, the transporter responsible for supplying human milk with zinc. Mutations in this transporter cause transient neonatal zinc deficiency (TNZD) with symptoms similar to AE but with autosomal dominant inheritance. The two diseases can be distinguished in affected infants. AE is fatal if zinc is not supplied to the infant after weaning, whereas TNZD is a genetic defect of the mother limiting the supply of zinc in the milk, and therefore the infant usually will obtain enough zinc once weaned. Although these diseases are relatively rare, the full functional consequences of the numerous mutations in ZIP4 and ZnT2 and their interactions with dietary zinc are not known. In particular, it remains unexplored whether some mutations cause milder disease phenotypes or increase the risk for other diseases if dietary zinc requirements are not met or exceeded. Thus, it is not known whether widespread zinc deficiency in human populations is based primarily on a nutritional deficiency or determined by genetic factors as well. This consideration becomes even more significant with regard to mutations in the other 22 human zinc transporters, where associations with a range of diseases, including diabetes, heart disease, and mental illnesses have been observed
Steere, Allen C; Strle, Franc; Wormser, Gary P; Hu, Linden T; Branda, John A; Hovius, Joppe W R; Li, Xin; Mead, Paul S
Lyme borreliosis is a tick-borne disease that predominantly occurs in temperate regions of the northern hemisphere and is primarily caused by the bacterium Borrelia burgdorferi in North America and Borrelia afzelii or Borrelia garinii in Europe and Asia. Infection usually begins with an expanding skin lesion, known as erythema migrans (referred to as stage 1), which, if untreated, can be followed by early disseminated infection, particularly neurological abnormalities (stage 2), and by late infection, especially arthritis in North America or acrodermatitis chronica atrophicans in Europe (stage 3). However, the disease can present with any of these manifestations. During infection, the bacteria migrate through the host tissues, adhere to certain cells and can evade immune clearance. Yet, these organisms are eventually killed by both innate and adaptive immune responses and most inflammatory manifestations of the infection resolve. Except for patients with erythema migrans, Lyme borreliosis is diagnosed based on a characteristic clinical constellation of signs and symptoms with serological confirmation of infection. All manifestations of the infection can usually be treated with appropriate antibiotic regimens, but the disease can be followed by post-infectious sequelae in some patients. Prevention of Lyme borreliosis primarily involves the avoidance of tick bites by personal protective measures.
Moon, Shinje; Hong, Yeongseon; Hwang, Kyu-Jam; Kim, Suyeon; Eom, Jihye; Kwon, Donghyok; Park, Ji-Hyuk; Youn, Seung-Ki; Sohn, Aeree
Lyme borreliosis is one of the most common tick-borne infections in the northern hemisphere. However, the epidemiological features and clinical manifestations of this disease in Korea are unknown. The present study is the first to investigate the characteristics of Lyme borreliosis in Korea. We traced suspected cases of Lyme borreliosis during the period 2005-2012. Of the 16 identified patients with the disease, 11 had acquired autochthonous infection within Korea, while 5 patients were infected outside Korea. The history of past exposure was investigated in 8 of the 11 patients with autochthonous infection; 5 of these 8 patients (62.5%) were suspected to have acquired the infection in the northeastern alpine region. Clinically, of 11 patients with autochthonous infection, 6 (54.5%) showed early skin manifestations, 4 (36.4%) showed neurological manifestations, and 1 (9.1%) showed acrodermatitis chronica atrophicans. In conclusion, Lyme borreliosis could be endemic in the northeastern alpine region of Korea, and neurological and early skin manifestations are likely to be the major clinical characteristics of autochthonous Lyme borreliosis in Korea.
Vasudevan, Biju; Chatterjee, Manas
Lyme disease is a multisystem illness which is caused by the strains of spirochete Borrelia burgdorferi sensu lato and transmitted by the tick, Ixodes. Though very commonly reported from the temperate regions of the world, the incidence has increased worldwide due to increasing travel and changing habitats of the vector. Few cases have been reported from the Indian subcontinent too. Skin manifestations are the earliest to occur, and diagnosing these lesions followed by appropriate treatment, can prevent complications of the disease, which are mainly neurological. The three main dermatological manifestations are erythema chronicum migrans, borrelial lymphocytoma and acrodermatitis chronica atrophicans. Many other dermatological conditions including morphea, lichen sclerosus and lately B cell lymphoma, have been attributed to the disease. Immunofluorescence and polymerase reaction tests have been developed to overcome the problems for diagnosis. Culture methods are also used for diagnosis. Treatment with Doxycycline is the mainstay of management, though prevention is of utmost importance. Vaccines against the condition are still not very successful. Hence, the importance of recognising the cutaneous manifestations early, to prevent systemic complications which can occur if left untreated, can be understood. This review highlights the cutaneous manifestations of Lyme borreliosis and its management. PMID:23723463
Meddeb, Mariam; Carpentier, Wassila; Cagnard, Nicolas; Nadaud, Sophie; Grillon, Antoine; Barthel, Cathy; De Martino, Sylvie Josiane; Jaulhac, Benoît; Boulanger, Nathalie
In Lyme borreliosis, the skin is the key site for bacterial inoculation by the infected tick and for cutaneous manifestations. We previously showed that different strains of Borrelia burgdorferi sensu stricto isolated from tick and from different clinical stages of the Lyme borreliosis (erythema migrans, and acrodermatitis chronica atrophicans) elicited a very similar transcriptional response in normal human dermal fibroblasts. In this study, using whole transcriptome microarray chips, we aimed to compare the transcriptional response of normal human dermal fibroblasts stimulated by 3 Borrelia burgdorferi sensu lato strains belonging to 3 main pathogenic species (B. afzelii, B. garinii and B. burgdorferi sensu stricto) in order to determine whether “species-related” inflammatory pathways could be identified. The three Borrelia strains tested exhibited similar transcriptional profiles, and no species-specific fingerprint of transcriptional changes in fibroblasts was observed. Conversely, a common core of chemokines/cytokines (CCL2, CXCL1, CXCL2, CXCL6, CXCL10, IL-6, IL-8) and interferon-related genes was stimulated by all the 3 strains. Dermal fibroblasts appear to play a key role in the cutaneous infection with Borrelia, inducing a homogeneous inflammatory response, whichever Borrelia species was involved. PMID:27706261
Müller, Kurt E
Lyme Borreliosis, or Lyme's disease, manifests itself in numerous skin conditions. Therapeutic intervention should be initiated as soon as a clinical diagnosis of erythema migrans is made. The histopathology of some of the skin conditions associated with Lyme Borreliosis is characterised by structural changes to collagen, and sometimes also elastic fibres. These conditions include morphea, lichen sclerosus et atrophicus and acrodermatitis chronica atrophicans. More recently, further skin conditions have been identified by the new microscopic investigation technique of focus floating microscopy: granuloma annulare, necrobiosis lipoidica, necrobiotic xanthogranuloma, erythema annulare centrifugum, interstitial granulomatous dermatitis, cutaneous sarcoidosis and lymphocytic infiltration; these conditions also sometimes cause changes in the connective tissue. In the case of ligaments and tendons, collagen and elastic fibres predominate structurally. They are also the structures that are targeted by Borrelia. The resultant functional disorders have previously only rarely been associated with Borreliosis in clinical practice. Ligamentopathies and tendinopathies, spontaneous ruptures of tendons after slight strain, dislocation of vertebrae and an accumulation of prolapsed intervertebral discs as well as ossification of tendon insertions can be viewed in this light.
Müller, Kurt E
Lyme Borreliosis, or Lyme’s disease, manifests itself in numerous skin conditions. Therapeutic intervention should be initiated as soon as a clinical diagnosis of erythema migrans is made. The histopathology of some of the skin conditions associated with Lyme Borreliosis is characterised by structural changes to collagen, and sometimes also elastic fibres. These conditions include morphea, lichen sclerosus et atrophicus and acrodermatitis chronica atrophicans. More recently, further skin conditions have been identified by the new microscopic investigation technique of focus floating microscopy: granuloma annulare, necrobiosis lipoidica, necrobiotic xanthogranuloma, erythema annulare centrifugum, interstitial granulomatous dermatitis, cutaneous sarcoidosis and lymphocytic infiltration; these conditions also sometimes cause changes in the connective tissue. In the case of ligaments and tendons, collagen and elastic fibres predominate structurally. They are also the structures that are targeted by Borrelia. The resultant functional disorders have previously only rarely been associated with Borreliosis in clinical practice. Ligamentopathies and tendinopathies, spontaneous ruptures of tendons after slight strain, dislocation of vertebrae and an accumulation of prolapsed intervertebral discs as well as ossification of tendon insertions can be viewed in this light. PMID:23986790
Khetarpal, Shilpi; Sood, Apra; Billings, Steven D
Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Cutaneous reactions to nilotinib are the most frequent non-hematologic adverse effects reported. However, it is important to distinguish KP-like eruptions from more severe drug hypersensitivity eruptions, which can necessitate discontinuing the medication. Also, it is important to classify the cutaneous eruptions in patients on TKI according to the morphology instead of labeling them all as "chemotherapy eruption" to be able to better manage these adverse effects.
Skinner-Taylor, Cassandra M.; Salinas, José A.; Arevalo-Niño, Katiushka; Galán-Wong, Luis J.; Maldonado, Guadalupe; Garza-Elizondo, Mario A.
Objectives Lyme disease is a tick-borne disease caused by infections with Borrelia. Persons infected with Borrelia can be asymptomatic or can develop disseminated disease. Diagnosis and recognition of groups at risk of infection with Borrelia burgdorferi is of great interest to contemporary rheumatology. There are a few reports about Borrelia infection in Mexico, including lymphocytoma cases positive to B. burgdorferi sensu stricto by PCR and a patient with acrodermatitis chronica atrophicans. Veterinarians have an occupational risk due to high rates of tick contact. The aim of this work was to investigate antibodies to Borrelia in students at the Faculty of Veterinary Medicine and Zootechnics, at Nuevo León, Mexico, and determine the antibody profile to B. burgdorferi antigens. Material and methods Sera were screened using a C6 ELISA, IgG and IgM ELISA using recombinant proteins from B. burgdorferi, B. garinii and B. afzelii. Sera with positive or grey-zone values were tested by IgG Western blot to B. burgdorferi sensu stricto. Results All volunteers reported tick exposures and 72.5% remembered tick bites. Only nine persons described mild Lyme disease related symptoms, including headaches, paresthesias, myalgias and arthralgias. None of the volunteers reported erythema migrans. Nine samples were confirmed by IgG Western blot. The profile showed 89% reactivity to OspA, 67% to p83, and 45% to BmpA. Conclusions Positive sera samples shared antibody reactivity to the markers of late immune response p83 and BmpA, even if individuals did not present symptoms of Lyme arthritis or post-Lyme disease. The best criterion to diagnose Lyme disease in our country remains to be established, because it is probable that different strains coexist in Mexico. This is the first report of antibodies to B. burgdorferi in Latin American veterinarians. Veterinarians and high-risk people should be alert to take precautionary measures to prevent tick-borne diseases. PMID:27504018
Coipan, E Claudia; Jahfari, Setareh; Fonville, Manoj; Oei, G Anneke; Spanjaard, Lodewijk; Takumi, Katsuhisa; Hovius, Joppe W R; Sprong, Hein
In this study we used typing based on the eight multilocus sequence typing scheme housekeeping genes (MLST) and 5S-23S rDNA intergenic spacer (IGS) to explore the population structure of Borrelia burgdorferi sensu lato isolates from patients with Lyme borreliosis (LB) and to test the association between the B. burgdorferi s.l. sequence types (ST) and the clinical manifestations they cause in humans. Isolates of B. burgdorferi from 183 LB cases across Europe, with distinct clinical manifestations, and 257 Ixodes ricinus lysates from The Netherlands, were analyzed for this study alone. For completeness, we incorporated in our analysis also 335 European B. burgdorferi s.l. MLST profiles retrieved from literature. Borrelia afzelii and Borrelia bavariensis were associated with human cases of LB while Borrelia garinii, Borrelia lusitaniae and Borrelia valaisiana were associated with questing I. ricinus ticks. B. afzelii was associated with acrodermatitis chronica atrophicans, while B. garinii and B. bavariensis were associated with neuroborreliosis. The samples in our study belonged to 251 different STs, of which 94 are newly described, adding to the overall picture of the genetic diversity of Borrelia genospecies. The fraction of STs that were isolated from human samples was significantly higher for the genospecies that are known to be maintained in enzootic cycles by mammals (B. afzelii, B. bavariensis, and Borrelia spielmanii) than for genospecies that are maintained by birds (B. garinii and B. valaisiana) or lizards (B. lusitaniae). We found six multilocus sequence types that were significantly associated to clinical manifestations in humans and five IGS haplotypes that were associated with the human LB cases. While IGS could perform just as well as the housekeeping genes in the MLST scheme for predicting the infectivity of B. burgdorferi s.l., the advantage of MLST is that it can also capture the differential invasiveness of the various STs.
Khumalo, N P; Loo, W J; Hollowood, K; Salvary, I; Graham, R M; Dawber, R P R
We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of our knowledge this is the second reported family in the UK.
Antigen mimicry followed by epitope spreading: a pathogenetic trigger for the clinical morphology of lichen planus and its transition to Graham Lassueur Piccardi Little Syndrome and keratosis lichenoides chronica - Medical hypotheses or reality?
Tchernev, Georgi; Nenoff, Pietro
Literature data analysis, providing an exact explanation of the lichen planus pathogenesis, as well as its transition into other rare forms such as Keratosis lichenoides chronica or Graham Lassueur Piccardi Little Syndrome are scant, or totally missing. The chronological course of the disease, known in the literature as lichen planus, varies. Some patients develop Lichen planus or lichen nitidus and there is no logical explanation why. It is also not clear why single patients initially develop ulcerative lesions in the area of the mucosa and only in a few of them these lesions affect the skin. Antigen Mimicry and Epitope Spreading could be the possible pathogenic inductor in cases of lichenoid dermatoses, as well as the cause for their transition into ulcerative, exanthematous or other rare forms. The Epitope Spreading is probably not the leading pathogenetic factor in lichen planus but a phenomenon which occurs later. This manuscript analyzes some basic pathogenic aspects and presents some possible medical hypotheses regarding the heterogenic clinical picture and pathogenesis of lichen planus and lichenoid like pathologies of the skin which, in the near future should be analyzed in details in order to clarify several dilemmas the clinical dermatologist has to face.
Di Lernia, Vito; Ricci, Cinzia
Folliculitis spinulosa decalvans is an uncommon condition characterized by follicular hyperkeratosis, followed by scarring alopecia. We report a 12-year-old boy affected by keratotic papules of the scalp and keratosis pilaris of the limbs who developed erythema, pustules, and scale crusts on the scalp associated with scarring alopecia. Histologic examination showed follicular and interfollicular hyperkeratosis, follicular plugging, mild inflammation, and focal scarring. A transient remission of the inflammatory changes on the scalp was obtained after treatment with isotretinoin. The follicular spinulous hyperkeratosis persisted. A severe relapse of the scalp inflammation was observed during a 2-year follow-up.
Kohles, N; Schulz, T; Eßer, D
There are 2 different kinds of chronic otitis media: Otitis media chronica mesotympanalis and otitis media chronica epitympanalis (cholesteatoma). The incidence of chronic otitis media as reported in literature differs in a wide range. The incidence rates vary between 0.45 and 46%. Both, otitis media chronica mesotympanalis and cholesteatoma, lead to eardrum perforation due to lengthy and recurring inflammations. Furthermore, chronic otitis media is characterized by frequently recurring otorrhea and conductive hearing loss.
Salamon, T; Gvozdenović, B
The case of a 2-year-old boy with keratosis follicularis spinulosa decalvans is described. On of his sisters had keratosis follicularis of the upper arms, forearms, thighs and legs as well as blepharonconjunctivitis chronica catarrhalis bilateralis and was considered as forme fruste of the anomaly. His mother had sparse eyebrows. The mode of inheritance and the Lyon hypothesis are discussed.
Eramo, L R; Esterly, N B; Zieserl, E J; Stock, E L; Herrmann, J
We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.
Riazantsev, S V; Chernushevich, I I
Betaleukin was given to 60 patients with various forms of otitis media purulenta chronica (OMPC). Symptoms of the purulent exacerbation were relieved in 43.3% of the patients, the clinical course improved in 18.3%. No response was achieved in 40% of the treated patients. Betaleukin proved highly effective in management of exacerbations of uncomplicated OMPC though it has no direct antimicrobial activity.
Aruna, Chintaginjala; Ramamurthy, D. V. S. B.; Neelima, T.; Bandaru, Haritha
Keratosis lichenoides chronica also known as Nekam's disease is a rare mucocutaneous disorder, characterized clinically by asymptomatic violaceous keratotic papules arranged in linear, reticular, or plaque form usually on the trunk and extremities and histologically by interface dermatitis. The disease is considered rare with only 128 cases being reported in the literature till date and very few from India. We report a case of a 40-year-old man who presented with constellation of features of lichen planus, seborrheic dermatitis, and apthous ulcers, which upon workup was found to be Nekam's disease. PMID:27990390
Bianchi, C A; García García, A; Stringa, O
A review of the skin changes in malabsorption syndrome, is presented; dividing the symptoms in skin, mucous membranes and adnexal involvement. In this way, acquired ichtyosis, hiperpigmentation changes, purpura and echimosis and eczematoid or psoriatic-like with generalized pruritus are described. The mucous membranes alterations are the most frequent ones, the angular cheilitis, glositis, ulcerations and aphthaes are pointed out, as well as the changes in the shape and colour of hair and nail abnormalities. Special mention deserve the particular cases of malabsorption syndromes that appears in: acrodermatitis enteropathica, dermatitis herpetiformis, Whipple disease, Cronkhite-Canada syndrome, dermatogenic enteropathy and abnormalities that occur as complication from the surgery treatment for obesity improvement.
Finner, Andreas M
Hair follicle cells have a high turnover. A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn errors or reduced uptake, can lead to structural abnormalities, pigmentation changes, or hair loss, although exact data are often lacking. The diagnosis is established through a careful history, clinical examination of hair loss activity, and hair quality and confirmed through targeted laboratory tests. Examples of genetic hair disorders caused by reduced nutritional components are zinc deficiency in acrodermatitis enteropathica and copper deficiency in Menkes kinky hair syndrome.
Domenech, P; Ferrando, J; Corretger, M; Torras, H; Valls, X; González, A
Keratosis follicularis spinulosa decalvans (ichthyosis follicularis or Siemens's syndrome) is considered a general form of keratosis pilaris decalvans. Localized types are keratosis pilaris atrophicans and atrophoderma vermicularis. A case of this unusual process is presented. Clinical, histological and scanning electron microscopic studies of the hair were performed. Clinically, a generalized hypotrichosis with hyperkeratotic follicular plugs is observed; especially in the scalp and the eyebrows. Other interesting clinical findings were cutis hyperelastica, gingival hypertrophy, mongoloid palpebral fissures, big pinnae and clinodactyly of the 5th finger. From the histological point of view we observed follicular plugging, dystrophic pilosebaceous follicles, absence of sebaceous glands, perifollicular fibrosis and minimal lymphomonocytic infiltrate. Scanning electronmicroscopy shows a brittle hair with cuticular abnormalities. Siemens's syndrome can be considered a specific pilosebaceous dysplasia because the absence or hypoplasia of sebaceous glands; which produces follicular hyperkeratosis and pilar atrophy with perifollicular fibrosis and alopecia.
Bruno, Maria Cecilia Teixeira de Carvalho; Vilela, Maria Aparecida Constantino; de Oliveira, Carlos Alberto B. Mendes
BACKGROUND The direct relationship between alcoholism and dermatoses has been evaluated in recent researches. However, there are few objective surveys that demonstrate and prove a direct relationship between alcohol and a specific dermatosis. OBJECTIVES to verify the prevalence of dermatoses in alcoholics, analize the dermatological changes found in these patients and their evolution during alcoholic abstinence. Also, to compare the results obtained with a non-alcoholic control group and with the data found in medical literature. METHODS: the dermatologic conditions of 278 alcoholic patients (250 men, 28 women) were studied over a period of 4 years, and compared to those of a control group of 271 non-alcoholic individuals (249 men, 22 women), members of the Military Police Force. The individuals in both groups were between 20 and 60 years old. RESULTS Pellagra, nummular eczema, purpura pigmentosa chronica (also known as pigmented purpuric dermatosis) and psoriasis were more frequent in the group of alcoholics and, apparently, occurred in parallel with alcoholism that seems to play a role in the evolution of these dermatoses. The dermatopathies were more frequent before the age of forty, regardless of factors such as profession, race or gender. CONCLUSION the association of dermatoses and alcoholism was extremely significant according to the statistical data. Alcoholism can be considered a risk factor for pellagra, psoriasis, nummular eczema and purpura pigmentosa chronica dermatoses, which can, as well, be considered alcoholism indicators. PMID:23793198
Wang, Ting-Shun; Chiu, Hsien-Yi; Hong, Jin-Bong; Chan, Chih-Chieh; Lin, Sung-Jan; Tsai, Tsen-Fang
Different studies have reported various values for the percentage of patients with IL36RN mutations, and it has also been reported that the sites of these mutations differ among different ethnicities. The current study was a cross-sectional study conducted to investigate the risk factors predicting IL36RN mutation in Chinese patients with different clinical features of pustular psoriasis. 57 Han Chinese patients, including 32 with generalized pustular psoriasis, 14 with palmoplantar pustulosis, 9 with plaque-type psoriasis with pustules, and 2 with erythrodermic psoriasis, were enrolled between March 2013 and July 2014. Blood samples were collected, genomic DNA was extracted from leukocytes, and polymerase chain reaction (PCR)-based Sanger sequencing was used to analyze the coding exons and flanking introns of the IL36RN gene. The patients with generalized pustular psoriasis exhibited the highest IL36RN mutation rate (75 %) among the aforementioned patient types, with the subgroup consisting of those patients who had features of acrodermatitis continua of Hallopeau exhibiting the highest c.115+6T>C mutation rate (93.8 %). In addition, early onset, ever generalized pustular psoriasis (more than two attacks), ever acrodermatitis continua of Hallopeau, inverse psoriasis, and a family history of pustular psoriasis were associated with IL36RN mutation. The c.115+6T>C mutation was the most common and the most important variant in all subtypes of pustular psoriasis with IL36RN mutations among our sample of Chinese patients.
Payette, Michael J; Weston, Gillian; Humphrey, Stephen; Yu, JiaDe; Holland, Kristen E
Lichenoid dermatoses, a group of inflammatory skin conditions with characteristic clinical and histopathologic findings, range from common to rare. Classic lichen planus typically presents as pruritic, polygonal, violaceous flat-topped papules and plaques; many variants in morphology and location also exist. Other lichenoid dermatoses share similar clinical presentations and histopathologic findings. These include lichenoid drug eruption, lichen planus-like keratosis, lichen striatus, lichen nitidus, and keratosis lichenoides chronica. Epidemiologic characteristics vary among each lichenoid disorder. While classic lichen planus is considered a disease of adults, other lichenoid dermatoses may be more common in younger populations. The literature contains an array of reports on the variations in presentation and successful management of lichen planus and lichenoid dermatoses among diverse populations. Familiarity with the characteristics of each lichenoid dermatosis, rare or common within each patient population, is key to accomplishing timely recognition and effective management.
Abdullah, A M
Forty-eight cases of chronic diarrhoea in children seen at King Khalid University Hospital over a 5-year period were analysed. The mean age at presentation was 1.8 years (range 0.08-10 years); 34 were boys and 14 girls. Forty-four patients were Saudi and four were non-Saudi Arabs. Most children presented with failure to thrive and pallor. The aetiological factors identified were: the post-gastro-enteritis syndrome with or without lactose intolerance in 16 (33%); coeliac disease in ten (21%); congenital chloride diarrhoea in five (10%); glucose-galactose malabsorption and acrodermatitis enteropathica, each in three (6%); ulcerative colitis, intestinal lymphangiectasia, cow's milk protein intolerance and ataxia telangiectasia, each in two (4%); and giardiasis, immune deficiency and cystic fibrosis, each in one (2%). Five children died.
Tucker, Ann T; Emerson, Ashley N; Wyatt, Julie P; Brodell, Robert T
Diaper dermatitis is the most common dermatologic disorder of infancy. Its cause can often be determined clinically based on the clinical presentation. Primary diaper dermatitis is associated with irritants and spares the deep skin folds. Secondary diaper dermatitis is most often caused by Candida yeast overgrowth and typically presents as a well-defined area of beefy red erythema covering the diaper area and including the deep folds of skin with hallmark satellite pustules. Other causes include seborrheic dermatitis, psoriasis, acrodermatitis enteropathica, allergic contact dermatitis, Langerhans cell histiocytosis, and, in the setting of a primarily pustular eruption, bacterial folliculitis. A simple potassium hydroxide preparation (KOH) can confirm the diagnosis of candida diaper dermatitis and guide proper treatment.
Pinazo Canales, I; Betlloch Mas, I; Mestre Bauza, F; Salva Armengod, F; Parras Vázquez, F; Alomar Cardell, J
Several cutaneous entities described in Europe as Chronic Migrans Erythema (CME), Mild Cutis Lymphadenosis (MCL) and Chronic Atrophyc Acrodermatitis (CAA) constitute clinical manifestations of a Borrellia Burgdorferi. The presence of clinical and hystologic lesions similar to those of liquen esclerosus and atrophyc (LEA) and localized esclerodermia (morphea) in patients with CAA has driven to several authors to demonstrate the aethiologic participation of B. Burgdorferi in patients carrying those cutaneous lesions with contradictory results. A serologic study with indirect immunofluorescence (IIF) and FIAX test was performed in 16 patients (9 with morphea, 6 with LEA and 1 with CME) in order to evaluate the role of this microorganism in our environment. Five reactive sera were obtained of which only one presented IgG antibodies titrated at 1/256. The IgM antibodies by IIF and IgG by FIAX test turned out to be negative. A specific relationship between B. Burgdorferi and the studied entities could not be established.
Mahajan, Vikram K.; Mehta, Karaninder S.; Chauhan, Pushpinder S.
Zinc, both in elemental or in its salt forms, has been used as a therapeutic modality for centuries. Topical preparations like zinc oxide, calamine, or zinc pyrithione have been in use as photoprotecting, soothing agents or as active ingredient of antidandruff shampoos. Its use has expanded manifold over the years for a number of dermatological conditions including infections (leishmaniasis, warts), inflammatory dermatoses (acne vulgaris, rosacea), pigmentary disorders (melasma), and neoplasias (basal cell carcinoma). Although the role of oral zinc is well-established in human zinc deficiency syndromes including acrodermatitis enteropathica, it is only in recent years that importance of zinc as a micronutrient essential for infant growth and development has been recognized. The paper reviews various dermatological uses of zinc. PMID:25120566
With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and
Pybus, Marc; Andrews, Glen K.; Lalueza-Fox, Carles; Comas, David; Sekler, Israel; de la Rasilla, Marco; Rosas, Antonio; Stoneking, Mark; Valverde, Miguel A.; Vicente, Rubén; Bosch, Elena
Extreme differences in allele frequency between West Africans and Eurasians were observed for a leucine-to-valine substitution (Leu372Val) in the human intestinal zinc uptake transporter, ZIP4, yet no further evidence was found for a selective sweep around the ZIP4 gene (SLC39A4). By interrogating allele frequencies in more than 100 diverse human populations and resequencing Neanderthal DNA, we confirmed the ancestral state of this locus and found a strong geographical gradient for the derived allele (Val372), with near fixation in West Africa. In extensive coalescent simulations, we show that the extreme differences in allele frequency, yet absence of a classical sweep signature, can be explained by the effect of a local recombination hotspot, together with directional selection favoring the Val372 allele in Sub-Saharan Africans. The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. Both acrodermatitis mutations cause absence of the ZIP4 transporter cell surface expression and nearly absent zinc uptake, while the Val372 variant displayed significantly reduced surface protein expression, reduced basal levels of intracellular zinc, and reduced zinc uptake in comparison with the Leu372 variant. We speculate that reduced zinc uptake by the ZIP4-derived Val372 isoform may act by starving certain pathogens of zinc, and hence may have been advantageous in Sub-Saharan Africa. Moreover, these functional results may indicate differences in zinc homeostasis among modern human populations with possible relevance for disease risk. PMID:24586184
Engelken, Johannes; Carnero-Montoro, Elena; Pybus, Marc; Andrews, Glen K; Lalueza-Fox, Carles; Comas, David; Sekler, Israel; de la Rasilla, Marco; Rosas, Antonio; Stoneking, Mark; Valverde, Miguel A; Vicente, Rubén; Bosch, Elena
Extreme differences in allele frequency between West Africans and Eurasians were observed for a leucine-to-valine substitution (Leu372Val) in the human intestinal zinc uptake transporter, ZIP4, yet no further evidence was found for a selective sweep around the ZIP4 gene (SLC39A4). By interrogating allele frequencies in more than 100 diverse human populations and resequencing Neanderthal DNA, we confirmed the ancestral state of this locus and found a strong geographical gradient for the derived allele (Val372), with near fixation in West Africa. In extensive coalescent simulations, we show that the extreme differences in allele frequency, yet absence of a classical sweep signature, can be explained by the effect of a local recombination hotspot, together with directional selection favoring the Val372 allele in Sub-Saharan Africans. The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. Both acrodermatitis mutations cause absence of the ZIP4 transporter cell surface expression and nearly absent zinc uptake, while the Val372 variant displayed significantly reduced surface protein expression, reduced basal levels of intracellular zinc, and reduced zinc uptake in comparison with the Leu372 variant. We speculate that reduced zinc uptake by the ZIP4-derived Val372 isoform may act by starving certain pathogens of zinc, and hence may have been advantageous in Sub-Saharan Africa. Moreover, these functional results may indicate differences in zinc homeostasis among modern human populations with possible relevance for disease risk.
Herr, D; Juhasz-Boess, I; Solomayer, E F
The rather rare vulvar cancer is almost always a squamous cell carcinoma that mostly develops from an underlying VIN or HPV infection. In addition, lichen sclerosus et atrophicans, immune deficiency, nicotine abuse or anogenital intraepithelial neoplasias may play a role in the pathogenesis. Surgical therapy aims at an R0 resection in the sense of a complete vulvectomy or a radical local excision with, if necessary, plastic reconstruction. Also, the vulvar field resection with consideration of the compartment model has been discussed. Besides the classic inguinofemoral lymphadenectomy, in selected cases of vulvar cancer sentinel biopsies are performed by experienced surgeons in the larger centres. In contrast, systemic therapy plays only a subordinate role; in isolated cases down-staging by means of neoadjuvant chemotherapy may be useful. However, there is at present no indication for adjuvant chemotherapy. Neoadjuvant radiochemotherapy is also not to be recommended on account of its unfavourable ratio of efficacy to side effects. On the other hand adjuvant radiotherapy is indicated in cases of positive inguinal lymph nodes. According to the current data the indication should be made generously in such cases.
Herr, D.; Juhasz-Boess, I.; Solomayer, E. F.
The rather rare vulvar cancer is almost always a squamous cell carcinoma that mostly develops from an underlying VIN or HPV infection. In addition, lichen sclerosus et atrophicans, immune deficiency, nicotine abuse or anogenital intraepithelial neoplasias may play a role in the pathogenesis. Surgical therapy aims at an R0 resection in the sense of a complete vulvectomy or a radical local excision with, if necessary, plastic reconstruction. Also, the vulvar field resection with consideration of the compartment model has been discussed. Besides the classic inguinofemoral lymphadenectomy, in selected cases of vulvar cancer sentinel biopsies are performed by experienced surgeons in the larger centres. In contrast, systemic therapy plays only a subordinate role; in isolated cases down-staging by means of neoadjuvant chemotherapy may be useful. However, there is at present no indication for adjuvant chemotherapy. Neoadjuvant radiochemotherapy is also not to be recommended on account of its unfavourable ratio of efficacy to side effects. On the other hand adjuvant radiotherapy is indicated in cases of positive inguinal lymph nodes. According to the current data the indication should be made generously in such cases. PMID:24882877
Tauber, Marie; Bal, Elodie; Pei, Xue-Yuan; Madrange, Marine; Khelil, Amel; Sahel, Houria; Zenati, Akila; Makrelouf, Mohamed; Boubridaa, Khaled; Chiali, Amel; Smahi, Naima; Otsmane, Farida; Bouajar, Bakar; Marrakchi, Slaheddine; Turki, Hamida; Bourrat, Emmanuelle; Viguier, Manuelle; Hamel, Yamina; Bachelez, Hervé; Smahi, Asma
Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/p.Gly141MetfsX29) in patients with familial generalized pustular psoriasis. We analyzed the impact of a spectrum of IL36RN mutations on IL-36 receptor antagonist protein by using site-directed mutagenesis and expression in HEK293T cells. This enabled us to differentiate null mutations with complete absence of IL-36 receptor antagonist (the two previously unreported mutations, c.80T>C/p.Leu27Pro, c.28C>T/p.Arg10X, c.280G>T/p.Glu94X, c.368C>G/p.Thr123Arg, c.368C>T/p.Thr123Met, and c.227C>T/p.Pro76Leu) from mutations with decreased (c.95A>G/p.His32Arg, c.142C>T/p.Arg48Trp, and c.308C>T/p.Ser113Leu) or unchanged (c.304C>T/p.Arg102Trp and c.104A>G/p.Lys35Arg) protein expression. Functional assays measuring the impact of mutations on the capacity to repress IL-36-dependent activation of the NF-κB pathway showed complete functional impairment for null mutations, whereas partial or no impairment was observed for other mutations considered as hypomorphic. Finally, null mutations were associated with severe clinical phenotypes (generalized pustular psoriasis, acute generalized exanthematous pustular eruption), whereas hypomorphic mutations were identified in both localized (palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau) and generalized variants. These results provide a preliminary basis for genotype-phenotype correlation in patients with deficiency of the IL-36Ra (DITRA), and suggest the involvement of other factors in the modulation of clinical expression.
Zhong, Franklin L; Mamaï, Ons; Sborgi, Lorenzo; Boussofara, Lobna; Hopkins, Richard; Robinson, Kim; Szeverényi, Ildikó; Takeichi, Takuya; Balaji, Reshmaa; Lau, Aristotle; Tye, Hazel; Roy, Keya; Bonnard, Carine; Ahl, Patricia J; Jones, Leigh Ann; Baker, Paul; Lacina, Lukas; Otsuka, Atsushi; Fournie, Pierre R; Malecaze, François; Lane, E Birgitte; Akiyama, Masashi; Kabashima, Kenji; Connolly, John E; Masters, Seth L; Soler, Vincent J; Omar, Salma Samir; McGrath, John A; Nedelcu, Roxana; Gribaa, Moez; Denguezli, Mohamed; Saad, Ali; Hiller, Sebastian; Reversade, Bruno
Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles that predispose to inflammasome activation. Mechanistically, NLRP1 mutations lead to increased self-oligomerization by disrupting the PYD and LRR domains, which are essential in maintaining NLRP1 as an inactive monomer. Primary keratinocytes from patients experience spontaneous inflammasome activation and paracrine IL-1 signaling, which is sufficient to cause skin inflammation and epidermal hyperplasia. Our findings establish a group of non-fever inflammasome disorders, uncover an unexpected auto-inhibitory function for the pyrin domain, and provide the first genetic evidence linking NLRP1 to skin inflammatory syndromes and skin cancer predisposition.
Yamaguchi, Sayaka; Miyagi, Takuya; Sogabe, Yoko; Yasuda, Masahito; Kanazawa, Nobuo; Utani, Atsushi; Izaki, Seiichi; Uezato, Hiroshi; Takahashi, Kenzo
Pellagra is a nutrient deficiency disease caused by insufficient niacin levels. Recent studies have shown that numbers of epidermal Langerhans cells decreased in other diseases caused by nutritional deficiencies, including necrolytic migratory erythema and acrodermatitis enteropathica. Epidermal Langerhans cells are capable of modulating or even halting the inflammatory reaction. The aim of this study was to examine changes in the number of Langerhans cells and other dendritic cells, and maturation of epidermal Langerhans cells in the lesional and adjacent non-lesional skin in pellagra patients. Seven pellagra patients and 10 healthy individuals who served as controls were included. The number and distribution of dendritic cells and other cutaneous cells were examined by immunohistochemistry. Epidermal Langerhans cells decreased considerably in the skin lesions of pellagra patients, whereas other dendritic cells did not change. The decrease in the number of Langerhans cells was positively correlated with the histological severity of skin lesions. As the number of Langerhans cells was not reduced in the undisturbed neighboring skin, the depletion of epidermal Langerhans cells did not precede skin damage but was a cause of prolonged severe inflammation.
Mandato, F; Rubegni, P; Buonocore, G; Fimiani, M
A 15-week-old baby girl, born at the 29 week of gestation, presented with a four-week history of demarcated, erythematous, erosive and exudative patches on the perianal, perioral and acral areas. A clinical diagnosis of zinc deficiency was considered. Serum zinc level was decreased (0.5 mg/L; normal 0.70-1.50 mg/L), the mother's serum and milk had normal zinc values. The baby was started an empiric trial of oral zinc supplementation (3 mg zinc gluconate/kg body weight/ day) with complete healing of lesions after two weeks. Treatment was gradually withdrawn at six months of age with no relapse. Transient zinc deficiency due to increased zinc requirements in breast-fed mainly preterm infants is a condition similar to acrodermatitis enteropathica, an autosomal recessive disorder of enteric zinc absorption affecting almost exclusively not breast-fed infants. Early recognition of the disorder and introduction of zinc supplementation rapidly reverses transient zinc deficiency, that probably will become more and more frequent, because of the rising rate of premature infants with breast-feeding only.
Kuitunen, P; Kosnai, I; Savilahti, E
A morphometric study of intraepithelial (IE) lymphocytes per 100 epithelial cells, villous heights (VH), crypt depths (CrD), and epithelial cell heights (ECH) was made on jejunal specimens of 17 patients with cow's-milk allergy (CMA), 52 with celiac disease (CD), seven with congenital lactase deficiency (CLD), four with acrodermatitis enteropathica (AE), four with giardiasis, and four with dermatitis herpetiformis (DH). The aim of this study was to investigate how the morphometric parameters correlate with each other. All cases with CMA, CD, and DH had villous atrophy with hyperplasia of the crypts, both signs being more severe in cases with CD and DH than with CMA. IE lymphocyte infiltration was more intense in specimens of patients with CD and DH (mean 76.0), than those with CMA (mean 62.5). The ECH were equally reduced in patients with CD and CMA. In a follow-up specimen at 1 year and 10 months for CD patients and 11 months for CMA patients the inflammation was reduced, and the VH were increased but still differed from the controls. In CLD cases the morphology of the villi and crypts of the jejunum was quite normal, with no IE lymphocyte infiltration; ECH were reduced. Minor morphological changes were seen in the specimens of patients with AE and giardiasis. In the whole study group there was a significant linear correlation, either positive or negative, between all variables measured (IE lymphocytes, VH, CrD, and ECH).
Küster, W; Happle, R
Fourteen monogenic cutaneous disorders of man are compared to similar gene defects in animals. The traits are classified into two groups. In the first group, an identity (homology) of the underlying gene defects is likely. This group includes oculo-cutaneous albinism, Chédiak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica. In the second group, the traits are similar but the question of their homology cannot be settled. It includes alopecia congenita, hidrotic ectodermal dysplasia of the Clouston type, and hereditary lymphedema. The existence of identical mutations in man and animals provides evidence for the close relationship between the various mammalian species. Homologous traits affecting the skin are of practical importance since the use of these animal models may help to answer those questions which cannot be answered by performing research in human patients.
Kimura, Tomoki; Kambe, Taiho
Around 3000 proteins are thought to bind zinc in vivo, which corresponds to ~10% of the human proteome. Zinc plays a pivotal role as a structural, catalytic, and signaling component that functions in numerous physiological processes. It is more widely used as a structural element in proteins than any other transition metal ion, is a catalytic component of many enzymes, and acts as a cellular signaling mediator. Thus, it is expected that zinc metabolism and homeostasis have sophisticated regulation, and elucidating the underlying molecular basis of this is essential to understanding zinc functions in cellular physiology and pathogenesis. In recent decades, an increasing amount of evidence has uncovered critical roles of a number of proteins in zinc metabolism and homeostasis through influxing, chelating, sequestrating, coordinating, releasing, and effluxing zinc. Metallothioneins (MT) and Zrt- and Irt-like proteins (ZIP) and Zn transporters (ZnT) are the proteins primarily involved in these processes, and their malfunction has been implicated in a number of inherited diseases such as acrodermatitis enteropathica. The present review updates our current understanding of the biological functions of MTs and ZIP and ZnT transporters from several new perspectives. PMID:26959009
Hapa, Asli; Ersoy-Evans, Sibel; Karaduman, Ayşen
Pityriasis lichenoides (PL) is not uncommon in childhood, but current knowledge about the efficacy of oral erythromycin therapy for its treatment in children is limited. To investigate the role of oral erythromycin therapy in the treatment of PL in children, the records of 24 children with PL who had been started on oral erythromycin treatment at our institution between 2005 and 2008 were retrospectively reviewed. The study included 24 patients (14 male, 10 female) with a median age of 7 years (range 2-14) of whom 15 (62.5%) had PL chronica (PLC), six (25%) PL et varioliformis acuta (PLEVA), and three (2.5%) PLEVA-PLC overlap. History of upper respiratory tract infection was reported in 33% (n = 8) of the patients. History of drug intake and vaccination was noted in 20% (n = 5) and 20% (n = 5), respectively. The disease began during spring (30%, n = 7) or fall (30%, n = 7) in the majority of patients. The median duration of the disease was 11 months (range 1-48 months). Fifteen (68.2%) patients had more than 100 lesions. Distribution was diffuse in 82% (n = 18) of the cases and peripheral in the remainder (n = 6). Oral erythromycin was started at a dosage of 30 to 50 mg/kg per day in three to four divided dosages for 1 to 4 months. Good response was recorded in 64% and 73% of patients in the first and second months of therapy, respectively. Response rate rose to 83% in the third month. In those for whom follow-up data were available (n = 16), relapse was recorded in 12.5% (n = 3). Oral erythromycin may be an effective and well-tolerated treatment option for PL in children and should be continued for at least 3 months.
DePasse, J Mason; Varner, Kevin; Cosculluela, Pedro; Incavo, Stephen
While uncommon, isolated avulsion fractures of the lesser trochanter occur in children and adolescents prior to the fusion of this apophysis as a result of athletic activities. In the elderly, isolated fractures of the lesser trochanter are rare but can occur as a result of trauma. They have been identified in patients with primary or secondary bone malignancies, which were previously considered pathognomonic for metastatic disease. In the absence of trauma, weakening of the bone due to systemic disorders such as osteoporosis or osteomalacia chronica renal failure may also be responsible. Diagnosis may be difficult with physical examination and radiographs alone. This case report details this rare fracture in 2 patients suffering from debilitating chronic disease. Patient 1 was a 30-year-old woman with an 18-year history of type 1 diabetes mellitus, a 6-year history of end-stage renal disease, hypertension, hypothyroidism, peripheral vascular disease, and a 3-year history of systemic lupus erythematosus with antiphospholipid syndrome treated with warfarin. Patient 2 was a 66-year-old woman with a history of type 2 diabetes mellitus, peripheral neuropathy, obesity, chronic obstructive pulmonary disease, gout, hypertension, and chronic neck and low back pain. Both were assessed with magnetic resonance imaging following physical examination, which revealed atraumatic avulsion of the distal iliopsoas tendon from the lesser trochanter. Following retraction of the iliopsoas tendon, the patients were treated with conservative therapy and anti-inflammatory medication. These 2 cases broaden the range of patients for whom spontaneous avulsion of the distal iliopsoas tendon should be considered in the differential diagnosis.
Errichetti, Enzo; Stinco, Giuseppe
Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders. In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides and subacute cutaneous lupus erythematosus), papulosquamous/papulokeratotic dermatoses (lichen planus, pityriasis rosea, papulosquamous sarcoidosis, guttate psoriasis, pityriasis lichenoides chronica, classical pityriasis rubra pilaris, porokeratosis, lymphomatoid papulosis, papulosquamous chronic GVHD, parakeratosis variegata, Grover disease, Darier disease and BRAF-inhibitor-induced acantholytic dyskeratosis), facial inflammatory skin diseases (rosacea, seborrheic dermatitis, discoid lupus erythematosus, sarcoidosis, cutaneous leishmaniasis, lupus vulgaris, granuloma faciale and demodicidosis), acquired keratodermas (chronic hand eczema, palmar psoriasis, keratoderma due to mycosis fungoides, keratoderma resulting from pityriasis rubra pilaris, tinea manuum, palmar lichen planus and aquagenic palmar keratoderma), sclero-atrophic dermatoses (necrobiosis lipoidica, morphea and cutaneous lichen sclerosus), hypopigmented macular diseases (extragenital guttate lichen sclerosus, achromic pityriasis versicolor, guttate vitiligo, idiopathic guttate hypomelanosis, progressive macular hypomelanosis and postinflammatory hypopigmentations), hyperpigmented maculopapular diseases (pityriasis versicolor, lichen planus pigmentosus, Gougerot-Carteaud syndrome, Dowling-Degos disease, erythema ab igne, macular amyloidosis, lichen amyloidosus, friction melanosis, terra firma-forme dermatosis, urticaria pigmentosa and
Generalized pustular psoriasis (GPP) is often present in patients with existing or prior psoriasis vulgaris (PV; "GPP with PV"). However, cases of GPP have been known to arise without a history of PV ("GPP alone"). There has long been debate over whether GPP alone and GPP with PV are distinct subtypes that are etiologically different from each other. We recently reported that the majority of GPP alone cases is caused by recessive mutations of IL36RN. In contrast, only a few exceptional cases of GPP with PV were found to have recessive IL36RN mutations. Very recently, we also reported that CARD14 p.Asp176His, a gain-of-function variant, is a predisposing factor for GPP with PV; in contrast, the variant is not associated with GPP alone in the Japanese population. These results suggest that GPP alone is genetically different from GPP with PV. IL36RN mutations are also found in some patients with severe acute generalized exanthematous pustulosis, palmar-plantar pustulosis, and acrodermatitis continua of hallopeau. CARD14 mutations and variants are causal or disease susceptibility factors of PV, GPP, or pityriasis rubra pilaris, depending on the mutation or variant position of CARD14. It is clinically important to analyze IL36RN mutations in patients with sterile pustulosis. For example, identifying recessive IL36RN mutations leads to early diagnosis of GPP, even at the first episode of pustulosis. In addition, individuals with IL36RN mutations are very susceptible to GPP or GPP-related generalized pustulosis induced by drugs (e.g., amoxicillin), infections, pregnancy, or menstruation.
Thomachot, B; Lafforgue, P; Acquaviva, P C
Physical trauma is generally accepted as a possible factor in the pathogenesis of rheumatoid arthritis. In the last ten years, there have been a few rare case reports of physical trauma precipitating psoriasic arthritis. We observed two such cases following an occupational accident discovered one and a half year and two and a half year after onset of the first clinical manifestations. In the first case, a 43-year-old man had a fracture of the right calcaneus in March 1991. He was treated with nailing and also required emergency surgery of the posterior tibial artery. The tibiotarsal joint was normal radiologically. Pain persisted after treatment and in 1993 he presented with psoriasis of the scalp and several other localizations together with Hallopeau's acrodermatitis continua of the ankle, pathognomonic for psoriasic arthritis. Salazosufapyridin was given. The second case was a 50-year-old man who had major pain in both wrists immediately after falling on the palm of his hands in 1992. Bilateral carpal tunnel syndrome developed which did not respond well to surgery. In 1993, he developed inflammatory synovitis and also had psoriasis mainly located at the elbows. Immunological tests were negative. Cortisone and salazosulfapyridin were not particularly effective and the patient later developed arthritis of the hip and ankle joints. Physicians should be aware of physical trauma as a causative factor in psoriasic arthritis due to the potential legal implications. Criteria for imputability are: single major physical trauma, absence of clinical signs prior to the trauma, continuous clinical course, first signs occurring then predominating at the joint exposed to trauma. The pathophysiology of this type of arthritis is not well understood. Deep Koebner's phenomena could be involved. Activation of substance P has also been hypothesized.
Giorgi, P L; Catassi, C; Guerrieri, A
In recent years the nutritional importance of zinc has been well established; its deficiency and its symptoms have also been recognized in humans. Furthermore, Acrodermatitis Enteropathica has been isolated, a rare but severe disease, of which skin lesions, chronic diarrhoea and recurring infections are the main symptoms. The disease is related to the malfunctioning of intestinal absorption of zinc and can be treated by administering pharmacological doses of zinc orally. Good dietary sources of zinc are meat, fish and, to a less extent, human milk. The amount of zinc absorbed in the small intestine is influenced by other nutrients: some compounds inhibit this process (dietary fiber, phytate) while others (picolinic acid, citric acid), referred to as Zn-binding ligands (ZnBL) facilitate it. Citric acid is thought to be the ligand which accounts for the high level of bioavailability of zinc in human milk. zinc absorption occurs throughout the small intestine, not only in the prossimal tract (duodenum and jejunum) but also in the distal tract (ileum). Diarrhoea is one of the clinical manifestations of zinc deficiency, thus many illnesses distinguished by chronic diarrhoea entail a bad absorption of zinc. In fact, in some cases of chronic enteropathies in infants, like coeliac disease and seldom cystic fibrosis, a deficiency of zinc has been isolated. Some of the symptoms of Crohn's disease, like retarded growth and hypogonadism, have been related to hypozinchemia which is present in this illness. Finally, it is possible that some of the dietary treatments frequently used for persistent post-enteritis diarrhoea (i.e. cow's milk exclusion, abuse and misuse of dietary fiber like carrot and carub powder, use of soy formula) can constitute a scarce supply of zinc and therefore could promote the persistency of diarrhoea itself.
Ankad, Balachandra S.; Beergouder, Savitha L.
Background Pityriasis lichenoides is an uncommon skin disease that presents in three different forms: pityriasis lichenoides et varioliformis acuta (PLEVA), pityriasis lichenoides chronica (PLC) and febrile ulceronecrotic-Mucha-Habermann disease. These represent a spectrum of a disease. PLEVA presents as skin eruption of multiple, small, red papules that develop into polymorphic lesions with periods of varying remissions, as well as possible sequels of hyper/hypopigmentation and varicella-like scars. Diagnosis of this condition is mainly clinical, and sometimes clinical differentiation from other conditions may be a difficult task that often requires histological analysis. In this study, PLEVA lesions were examined by dermoscopy, and the significance of specific dermoscopic findings was investigated in order to facilitate their differentiation from other inflammatory conditions. Objectives To evaluate dermoscopic patterns in PLEVA and to correlate these patterns with histopathology. Materials and methods The study was conducted at S. Nijalingappa Medical College, Bagalkot. It was an observational case series study and patients were selected randomly. Ethical clearance and informed consent were obtained. PLEVA lesions in early and late phases were evaluated. A manual DermLite 3 (3Gen, San Juan Capistrano, CA) dermoscope attached to a Sony (Cyber Shot DSC-W800, Sony Electronics Inc., San Diego, California, USA, digital, 14 mega pixels) camera was employed. Histopathology was done to confirm the diagnosis. Data was collected and analyzed. Results were statistically described in terms of frequencies and types of dermoscopic patterns. Results There was a total of 14 patients; 8 males and 6 females. Mean age of patients was 19 years. Mean duration of disease was 7 months. Dermoscopy in early-phase lesions revealed amorphous brownish areas around the hair follicles, dotted vessels, and scaling. Dermoscopy in late-phase lesions showed whitish-structureless areas and
Kieć-Swierczyńska, M; Wojtczak, J
Recently, the use of asbestos has been considerably limited in Poland, with the simultaneous increase in the manufacture, processing and application of man-made mineral fibres, which includes ceramic fibres. The aims of this study were (1) to assess the type and frequency of dermal changes caused by the irritant activity of ceramic fibres among workers at the plants that manufacture packing and insulation products; and (2) to compare the irritant activity of Polish-made L-2 and L-3 ceramic fibres with that of the Thermowool ceramic fibres made in England. Workers (n = 226) who were exposed to ceramic fibres underwent dermatological examination. Patch tests with the standard allergen set, together with samples of the fibres L-2, L-3, and Thermowool fibres, were applied to all the workers. It has been shown that the Polish-made L-2 and L-3 fibres differed from Thermowool fibres in that the L-2 and L-3 fibres contained zirconium and were coarser. The proportion of filaments with diameters above 3 microns was 11.1% in the L-3 fibre and 6.3% in the L-2 fibre samples. The Thermowool fibre did not contain filaments thicker than 3 microns. Evident dermal changes, resulting from strong irritant activity of the fibres, were detected in 109 (48.2%) of the workers examined. Irritant contact dermatitis acuta (maculae, sometimes papulae and small crusts on the upper extremities, trunk, and lower extremities), disappearing after 2-3 days, was found in 50 (22.1%) workers. Irritant contact dermatitis chronica (diffuse permanent erythema with numerous telangiectasiae on the lateral portions of the face and neck, on the trunk, behind the auricles) was detected in 40 (17.7%) workers. The remaining 19 (8.4%) workers had both types of dermal change. All examined workers complained of very strong itching. The results of the patch tests confirmed the irritant activity of the ceramic fibres. Erythema without oedema, persisting for up to 96 h, appeared at the places where the fibres had
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
Magro, Cynthia; Crowson, A Neil; Kovatich, Al; Burns, Frank
Pityriasis lichenoides (PL) is a papulosquamous disorder often considered a form of reactive dermatosis and classified with small plaque parapsoriasis (digitate dermatosis). However, some patients with PL have developed large plaque parapsoriasis (LPP) and mycosis fungoides (MF), and lymphoid atypia and T-cell clonality have been reported in lesions of PL. We set out to explore the possibility that PL is a form of T-cell dyscrasia. Cases were selected by natural language search from an outpatient dermatopathology database; 35 cases were reviewed and clinicians and patients were contacted. Hematoxylin and eosin-stained sections were examined and immunophenotyping was carried out on paraffin-embedded, formalin-fixed tissue using antibodies to CD2, CD3, CD4, CD5, CD7, CD8, CD20, CD30, and CD56. In paraffin-embedded tissue, T-cell receptor (TCR)-gamma chain rearrangement was sought through polymerase chain reaction single stranded conformational polymorphism analysis. There were 14 males and 21 females with a mean age of 40 years held clinically to have PL chronica (PLC) (28 cases) and/or PL et varioliformis acuta (PLEVA) (7 cases). Five patients developed large atrophic poikilodermatous and/or annular plaques compatible with MF and/or LPP in a background of typical PLC. All biopsies showed tropism of lymphocytes to an epidermis manifesting psoriasiform hyperplasia, dyskeratosis, parakeratosis, and intraepithelial collections of Langerhans' cells and lymphocytes mimicking Pautrier's microabascesses. Epidermal atrophy, dermal fibroplasia, poikilodermatous alterations, and a dominance of intraepidermal cerebriform cells were seen only in patients with chronic persistent disease (i.e., PLC) and in some cases corresponded with clinical progression to MF. All cases had a T cell-dominant infiltrate, with a CD7 deletion in 21 of 32 biopsies examined; the CD7-negative cells were typically the largest and most atypical forms, often in a cohesive array within the upper layers of