Wandering spleen, gastric and pancreatic volvulus and right-sided descending and sigmoid colon.

PubMed

Flores-Ríos, Enrique; Méndez-Díaz, Cristina; Rodríguez-García, Esther; Pérez-Ramos, Tania

2015-10-01

Wandering spleen is a rare condition, characterized by a mobile spleen that is attached only by an elongated vascular pedicle, allowing it to migrate to any part of the abdomen or pelvis. Mesenteroaxial gastric volvulus usually occurs in children and may be associated with wandering spleen. Both entities result from abnormal laxity or absence of the peritoneal attachments due to abnormal fusion of the peritoneal mesenteries. Pancreatic volvulus is a very rare anomaly, with only a few isolated case reports described in association with wandering spleen. Anomalous right sided descending and sigmoid colon is a very rare entity and its association with wandering spleen has not been previously reported. We report a case of wandering spleen associated with mesenteroaxial gastric volvulus, pancreatic volvulus and rightward shift of the splenic flexure of the colon and right sided descending and sigmoid colon in a young female.

Wandering spleen, gastric and pancreatic volvulus and right-sided descending and sigmoid colon

PubMed Central

Flores-Ríos, Enrique; Méndez-Díaz, Cristina; Rodríguez-García, Esther; Pérez-Ramos, Tania

2015-01-01

Wandering spleen is a rare condition, characterized by a mobile spleen that is attached only by an elongated vascular pedicle, allowing it to migrate to any part of the abdomen or pelvis. Mesenteroaxial gastric volvulus usually occurs in children and may be associated with wandering spleen. Both entities result from abnormal laxity or absence of the peritoneal attachments due to abnormal fusion of the peritoneal mesenteries. Pancreatic volvulus is a very rare anomaly, with only a few isolated case reports described in association with wandering spleen. Anomalous right sided descending and sigmoid colon is a very rare entity and its association with wandering spleen has not been previously reported. We report a case of wandering spleen associated with mesenteroaxial gastric volvulus, pancreatic volvulus and rightward shift of the splenic flexure of the colon and right sided descending and sigmoid colon in a young female. PMID:26629290

Primary intraosseous squamous cell carcinoma in odontogenic keratocyst: A rare entity

PubMed Central

Saxena, Chitrapriya; Aggarwal, Pooja; Wadhwan, Vijay; Bansal, Vishal

2015-01-01

Squamous cell carcinoma (SCC) arising from the wall of an odontogenic cyst (also known as primary intraosseous carcinoma) is a rare tumor which occurs only in jaw bones. This tumor was first described by Loos in 1913 as a central epidermoid carcinoma of the jaw. Primary intraosseous carcinomas (PIOC) may theoretically arise from the lining of an odontogenic cyst or de novo from presumed odontogenic cell rests. According to the new histological classification of tumors of the World Health Organization, odontogenic keratocyst is nowadays considered a specific odontogenic tumor and the PIOC derived from it is considered as a specific entity which is different from other PIOCs derived from the odontogenic cysts. The following report describes a case of such extremely rare entity that is primary intraosseous SCC of the mandible derived from an OKC in a 60-year-old male patient with brief review of literature. PMID:26980976

Dermoid cyst of the pancreas: A case report with literature review

PubMed Central

Lane, Jason; Vance, Ansar; Finelli, Daniel; Williams, Gary; Ravichandran, Pars

2012-01-01

Pancreatic dermoid cysts represent a rare entity with 35 cases described in the world literature, including the present one. Pre-operative diagnosis is difficult, with definitive diagnosis usually taking place intra-operatively. We report the case of a 63 year old male with a symptomatic, 6 cm cystic mass in the body of the pancreas. The pre-operative evaluation suggested a cystic neoplasm, but was indeterminate as to whether the lesion was benign or malignant. The diagnosis of dermoid cyst was made intra-operatively with frozen section. Although the diagnosis could not be made pre-operatively this retrospective report highlights the difficulty in evaluating cystic pancreatic lesions by imaging and summarizes the current body of knowledge on this rare entity. PMID:23365699

Primary Pulmonary Mucinous (Colloid) Adenocarcinoma that Arose in the Cavernomyoplasty Area in a Patient with Tuberculosis: A Rare Case Report.

PubMed

Yener, Neşe A; Sariman, Nesrin; Atasoy, Mehmet M; Midi, Ahmet; Örki, Alpay

2017-01-01

Primary pulmonary mucinous (colloid) adenocarcinoma is a rare type of lung cancer. Its arising in the cavernomyoplasty area has not been reported before. We here describe a sixty-year-old man with a previous history of multidrug-resistant and surgically-treated tuberculosis who was diagnosed as primary mucinous adenocarcinoma in the cavernomyoplasty site. We discuss the relevant literature on this rare entity.

Diagnostic pitfalls associated with a large true posterior communicating artery aneurysm: a case report.

PubMed

Nagatani, Kimihiro; Otani, Naoki; Seno, Soichiro; Takeuchi, Satoru; Wada, Kojiro; Mori, Kentaro

2013-10-01

True posterior communicating artery (PCoA) aneurysm is an aneurysm that originates from the PCoA, and large or giant true PCoA aneurysms are rare. We report a case of a large true PCoA aneurysm successfully clipped after anterior clinoidectomy and discuss the diagnostic pitfalls associated with this rare clinical entity.

Primary tuberculosis of the breast manifested as abscess: a rare case report.

PubMed

Gupta, Samita; Singh, Vikram J; Bhatia, Gaurav; Dhuria, Kshitiz

2014-01-01

Primary breast tuberculosis is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. On histopathology, it was diagnosed as breast tuberculosis. Aspiration cytology was not done due breast abscess. Patient was put on anti-tubercular drugs. In follow up, after 3 months patient condition was improved.

Gastric Volvulus: A Rare Entity Case Report and Literature Review

PubMed Central

Akhtar, Aisha; Sheikh, Abdul Ahad E; Sheikh, Abu Baker; Perisetti, Abhilash

2018-01-01

Gastric volvulus is a rare entity defined as an abnormal rotation of the stomach around itself. It is a diagnosis of exclusion; the clinical index of suspicion is always low and is mostly diagnosed on imaging or on the surgery table. When it occurs, it is an emergency due to the risk of strangulation and consequent gangrene of the stomach. Mesentero-axial (MA) gastric volvuli constitute one-third of all cases. Here, we are present an interesting case of acute MA gastric volvulus diagnosed with imaging and treated subsequently. PMID:29755908

Primary extraskeletal myxoid chondrosarcoma of pulmonary arteries: a rare mimic of acute pulmonary thromboembolism.

PubMed

Gadabanahalli, Karthik; Belaval, Vinay V; Bhat, Venkatraman; Gorur, Imran M

2015-04-01

Primary extraskeletal myxoid chondrosarcoma of the pulmonary arteries is a very rare entity. Multimodality imaging reports on this entity are few. Myxoid chondrosarcoma is characterized by chondroid and neurogenic differentiation in extraskeletal locations. These tumours represent fewer than 2.5% of all soft-tissue sarcomas, and are most commonly found in the lower extremities, limb girdles, distal extremities and trunk. We report an unusual case of a 31-year old man with histopathologically proven extraskeletal myxoid chondrosarcoma of the pulmonary arteries mimicking acute pulmonary thromboembolism. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

PubMed

Da Aw, Lin; Zain, Murizah M; Esteves, Sandro C; Humaidan, Peter

2016-01-01

A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management. Copyright® by the International Brazilian Journal of Urology.

Cerebellar liponeurocytoma with extracranial extension: case report.

PubMed

Ben Nsir, A; Ben Said, I; Hammami, N; Sebai, R; Jemel, H

2014-01-01

Cerebellar liponeurocytoma is a newly recognized, rare clinicopathological entity commonly described in the cerebellar hemispheres or the vermis. We present a rare case of cerebellar liponeurocytoma arising from the left cerebellar amygdala with extracranial extension. Such a condition has never been previously reported. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

A Unique Case of Malignant Pleuropericardial Effusion: HHV-8-Unrelated PEL-Like Lymphoma—A Case Report and Review of the Literature

PubMed Central

Mohammad, Farhan; Siddique, Muhammad Neaman; Siddiqui, Faraz; Popalzai, M.; Asgari, Masoud; Odaimi, Marcel

2014-01-01

Primary effusion lymphoma (PEL) or body cavity lymphoma is a rare type of extra nodal lymphoma of B-cell origin that presents as lymphomatous effusion(s) without any nodal enlargement or tumor masses. It belongs to the group of AIDS related non-Hodgkin's lymphomas. First described in 1996 in HIV infected individuals who were coinfected with Kaposi's sarcoma-associated herpesvirus (KSHV) or HHV-8 virus, it was included as a separate entity in WHO classification of tumors of hematopoietic and lymphoid tissue in the year 2001. The definition included association with HHV-8 virus as a mandatory diagnostic criterion. However, cases were later reported where PEL-like disease process was diagnosed in HHV-8 negative patients. This was eventually recognized as a rare but distinct entity termed as “HHV-8-unrelated PEL-like lymphoma”. Herein, we are reporting a case of an elderly patient who presented with a large pleuropericardial effusion and was eventually diagnosed with this entity. Till date, only around 50 cases of HHV-8-unrelated PEL-like lymphoma have been reported and our case being EBV, HIV, and Hepatitis C negative makes it very unique and rare occurrence. We are also presenting a review of relevant literature focused mainly on comparing outcomes in patients treated with and without chemotherapy. PMID:24716045

Inflammatory myoglandular polyp--a rare but distinct type of colorectal polyps.

PubMed

Becheanu, Gabriel; Stamm, Bernhard

2003-01-01

The aim of this paper was to report another example of a rare type of colorectal polyps, the inflammatory myoglandular polyp, and to reaffirm this type of polyp as a distinct entity. This solitary pedunculated polyp was detected after a single episode of rectal bleeding. It was situated in the sigmoid colon, measured 2.5 cm in greatest diameter, and was composed almost exclusively of smooth muscles and hyperplastic glands. The patient had neither chronic colitis nor diverticula. Clinical presentation, localization, and histology give this type of polyp a unique appearance and justify its designation as a separate entity.

A rare pleural mucinous cystadenocarcinoma mimicking loculated empyema initially: A case report

PubMed Central

Moon, Sung Min; Seon, Hyun Ju; Choi, Yoo-Duk; Song, Sang-Yun

2013-01-01

We report a case of pleural mucinous cystadenocarcinoma which was mistaken to be a loculated empyema on chest CT. To the best of our knowledge, this entity has never been previously reported in literature. PMID:24604931

Orthostatic hypotension as an unusual clinical manifestation of pheochromocytoma: a case report.

PubMed

Bortnik, Miriam; Occhetta, Eraldo; Marino, Paolo

2008-08-01

Pheochromocytoma is a rare endocrine tumor which can have a highly variable presentation related to increased catecholamine secretion. We report the case of a 74-year-old man in whom recurrent episodes of syncope due to orthostatic hypotension were the only clinical manifestations of this challenging entity. Diagnosis of pheochromocytoma was achieved by biochemical test samples and computed tomography scans. Surgical excision of the tumor resulted in clinical improvement with normalization of catecholamine concentrations and no more episodes of orthostatic hypotension during a follow-up of 24 months. Although rare, pheochromocytoma may frequently cause disorders of orthostatic tolerance; because of its meaningful implications, screening for this entity should be considered in case of recurrent syncopal episodes due to new-onset orthostatic hypotension.

Renal Extra Skeletal Mesenchymal Chondrosarcoma: A Case Report.

PubMed

Salehipour, Mehdi; Hosseinzadeh, Masood; Sisakhti, Afshin Molaei; Parvin, Vahid Abdol Mohammadi; Sadraei, Amin; Adib, Ali

2017-05-01

Primary mesenchymal chondrosarcoma of the Kidney is an extremely rare entity and very few cases have been reported in literature. We report a 22-year-old male with a right renal mass; after radical nephrectomy, pathologic examination revealed primary extra skeletal mesenchymal chondrosarcoma.

Tuberculosis of the Chest Wall with Massive Tuberculous Pleural Effusion.

PubMed

Monteiro, Mongressa V; Keny, Sanjivani J; Lawande, Durga J; Kakodkar, Uday C

2016-01-01

Primary tuberculosis of components of the chest wall is a rare entity. Involvement of skeletal muscle by tuberculosis without any primary focus is also rare. Here, we report a case of tuberculosis of chest wall without pulmonary or bone involvement, that invaded into the pleural space leading to a massive pleural effusion.

Primary renal diffuse large B-cell lymphoma with central nervous system involvement: a rare case report and literature review.

PubMed

Wang, Ying; Guo, Shuangshuang

2015-01-01

Primary renal lymphoma is a rare entity. Of these, diffuse large B-cell lymphoma is the most common pathological type and, R-CHOP regimen was the preferred chemotherapy for it. Here we present an adult case of primary renal diffuse large B-cell lymphoma.

Spontaneous Rupture of Adenocarcinoma of Meckel’s Diverticulum- A Rare Entity

PubMed Central

2015-01-01

Meckel’s diverticulum is a true diverticulum from remnant of vitelline duct. It is most common congenital anomaly of intestine. It is associated with intestinal atresia and anorectal anomalies. It contains heterotrophic epithelium. Most common heterotrophic mucosa is gastric followed by pancreatic tissue. Adenocarcinoma arising from Meckel’s diverticulum is very rare. Spontaneous perforation of adenocarcinoma rarely reported. Most of perforation reported in Meckel’s diverticulum diagnosed during intraoperative period. This is a case report of spontaneous rupture of adenocarcinoma of Meckel’s diverticulum, which was managed with primary resection and ileostomy. PMID:26672729

The primary fallopian tube carcinoma: a rare association with pelvic nodal tuberculosis

PubMed Central

Mamouni, Nisrine; Saadi, Hanane; belfatemi, Hinde; Erraghay, Sanaa; Bouchikhi, Chahrazade; Banani, Abdelaziz

2017-01-01

The primary carcinoma of fallopian tube is a rare entity. It represents 0.14 to 1.81% of genital cancers in women. It is a cancer of older women. Its association with tuberculosis is exceptional. We report a rare case of bilateral serous adenocarcinoma of the fallopian tube in a patient aged 42 years, multiparous, whose characteristic is the unexpected association with peritoneal tuberculosis. PMID:29541309

Primary rhabdomyosarcoma of the pineal gland.

PubMed

Lau, Steven K M; Cykowski, Matthew D; Desai, Shiv; Cao, Ying; Fuller, Gregory N; Bruner, Janet; Okazaki, Ian

2015-05-01

To report a case of primary rhabdomyosarcoma (RMS) of the pineal gland in an adult, as well as review the literature on this rare entity. The case is compared with previous reports of similar entities, with emphasis on this patient's characteristics and clinical presentation, investigations, and management. Diagnosis of primary RMS of the pineal gland was based on the presence of strap cells and multinucleated myotube-like structures, as well as tumor cell expression of skeletal muscle markers consistent with myogenic differentiation. Multimodality treatment was initiated based on pediatric protocols. Unfortunately, the disease progressed on treatment, and the patient survived only 5 months from diagnosis. Pineal RMS is a rare disease with poor prognosis. Optimal management is unknown but likely to involve aggressive multimodality therapy. Copyright© by the American Society for Clinical Pathology.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report.

PubMed

Kumar, Mayank; Pottipati, Bhaswanth; Arakeri, Surekha U; Javalgi, Anita P

2017-06-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report

PubMed Central

Pottipati, Bhaswanth; Arakeri, Surekha U.; Javalgi, Anita P.

2017-01-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast. PMID:28764176

Aneurysmal Bone Cysts of the Spine: Two Case Reports

PubMed Central

Ozdemir, Seymen; Ozden, Ferhat; Kacira, Ozlem Kitiki; Kacira, Tibet

2014-01-01

Aneurysmal bone cysts are rare entities which causes expansile and destructive bone lesions characterized by reactive proliferation of connective tissue. They usually grow rapidly with hypervascularity. In clinical practice they can be easily misdiagnosed due to the rare occurance and having no such typical findings as radiologically. Most cases have uncommon pain symptoms, but rarely, if fractures occur, neurological findings can be seen and the surgical treatment, if needed, could be difficult. We will discuss our evaluations to two cases that we experienced in our clinic in this report. PMID:25620988

Aneurysmal bone cysts of the spine: two case reports.

PubMed

Ozdemir, Seymen; Yaldiz, Can; Ozden, Ferhat; Kacira, Ozlem Kitiki; Kacira, Tibet

2014-12-01

Aneurysmal bone cysts are rare entities which causes expansile and destructive bone lesions characterized by reactive proliferation of connective tissue. They usually grow rapidly with hypervascularity. In clinical practice they can be easily misdiagnosed due to the rare occurance and having no such typical findings as radiologically. Most cases have uncommon pain symptoms, but rarely, if fractures occur, neurological findings can be seen and the surgical treatment, if needed, could be difficult. We will discuss our evaluations to two cases that we experienced in our clinic in this report.

Proliferating Myositis: An Inflammatory Lesion often Misdiagnosed as A Malignant Tumor.

PubMed

Binesh, Fariba; Sobhanardekani, Mohammad; Zabihi, Somayeh; Behniafard, Nasim

2016-12-01

Proliferative myositis (PM) is a rare inflammatory disease. Most commonly, the lesion occurs in the extremities. Regarding its fast growth and bizarre shape of the cellular components this entity commonly misdiagnosed and the patients undergo improper therapeutic approaches. In other words, it is often misdiagnosed as sarcoma. The diagnosis can only be made by the microscopic examination, so biopsy is mandatory. Here the authors report a patient with PM who was initially misdiagnosed as pleomorphic sarcoma of the lower extremity and explain this rare entity. Proliferative myositis should be taken into account if a fast growing, intramuscular mass occurs in the extremities.

[Rudimentary horn pregnancy diagnostic: difficulties and therapeutic management].

PubMed

Mamouni, Nisrine; Ghazal, Nabil; Erraghay, Sanaa; Bouchikhi, Chahrazed; Banani, Abdelaziz

2016-01-01

The occurrence of rudimentary horn pregnancy is an extremely rare and potentially serious obstetric entity, threatening maternal and fetal outcome. The authors report five cases of rudimentary horn pregnancy, the difficulties in making a proper diagnosis and the therapeutic management of this pathological entity, stressing the importance of transvaginal ultrasound, of pelvic MRI and laparoscopy in the early diagnosis of this type of uterine malformation.

Avascular Necrosis of the Capitate

PubMed Central

Bekele, Wosen; Escobedo, Eva; Allen, Robert

2011-01-01

Avascular necrosis of the capitate is a rare entity. The most common reported etiology is trauma. We report a case of avascular necrosis of the capitate in a patient with chronic wrist pain that began after a single episode of remote trauma. PMID:22470799

Juvenile granulosa cell tumor of testis: case report and review of literature.

PubMed

Dudani, Rajesh; Giordano, Lisa; Sultania, Priyanka; Jha, Kamlesh; Florens, Adrian; Joseph, Tessy

2008-04-01

Juvenile granulosa cell tumor (JGCT) of testis is extremely rare in childhood. It is considered a benign entity because metastasis has never been reported. Testicular-sparing surgery is the recommended treatment. We reported this case in a newborn who presented with unilateral scrotal swelling. Histopathology and immunohistochemistry confirmed JGCT. Follow-up at 6 months after surgery did not show any recurrence. Even though JGCT is very rare in childhood, it is one of the important differentials of newborn scrotal mass.

Intracerebellar malignant nerve sheath tumor in a child: case report and review of literature.

PubMed

Joshi, Krishna Chaitanya; Chakravarthy, Hariprakash; Subramanian, Nirmala

2015-05-01

Intracerebellar malignant nerve sheath tumor (ICMNST) is an extremely rare entity, only two cases have been reported previously, and this is the first case to be reported in a child. The histogenesis, diagnosis, and management of this entity are very ambiguous, and natural history in a child is unknown. The authors report a 7-year-old girl who presented with ataxia and signs of raised intracranial pressure and discuss the challenges in diagnosis, surgical strategy, and treatment. Following gross total resection and radiation to tumor bed, the patient had unremarkable recovery and is recurrence free at 1-year follow-up. ICMNSTs are extremely rare tumors of the cerebellum. Preoperative radiological diagnosis is not possible due to its close radiological resemblance to other common posterior fossa tumors. Immunohistochemistry plays a pivotal role in clinching the diagnosis. Though the reported adult counterparts have shown dismal prognosis, the pediatric counterparts may fare better with good surgical resection followed by radiotherapy.

A critical appraisal of the mild axonal peripheral neuropathy of late neurologic Lyme disease

PubMed Central

Wormser, Gary P.; Strle, Franc; Shapiro, Eugene D.; Dattwyler, Raymond J.; Auwaerter, Paul G.

2018-01-01

In older studies, a chronic distal symmetric sensory neuropathy was reported as a relatively common manifestation of late Lyme disease in the United States. However, the original papers describing this entity had notable inconsistencies and certain inexplicable findings, such as reports that this condition developed in patients despite prior antibiotic treatment known to be highly effective for other manifestations of Lyme disease. More recent literature suggests that this entity is seen rarely, if at all. A chronic distal symmetric sensory neuropathy as a manifestation of late Lyme disease in North America should be regarded as controversial and in need of rigorous validation studies before acceptance as a documented clinical entity. PMID:27914746

Parry-Romberg syndrome (progressive hemifacial atrophy) with spasmodic dysphonia--a rare association.

PubMed

Mugundhan, K; Selvakumar, C J; Gunasekaran, K; Thiruvarutchelvan, K; Sivakumar, S; Anguraj, M; Arun, S

2014-04-01

Parry-Romberg syndrome is a rare clinical entity characterised by progressive hemifacial atrophy with appearance of 'saber'. Various neurological and otorhinolaryngological disorders are associated with this syndrome. The association of Parry -Romberg syndrome with Spasmodic dysphonia has rarely been reported. A 37 year old female presented with progressive atrophy of tissues of left side of face for 10 years and change in voice for 1 year. On examination, wasting and atrophy of tissues including tongue was noted on left side of the face. ENT examination revealed adductor spasmodic dysphonia. We report the rare association of Parry -Romberg syndrome with spasmodic dysphonia.

Spontaneous temporal encephaloceles masked by dual pathology: report of two cases.

PubMed

Paleri, V; Watson, C

2001-05-01

Spontaneous temporal meningoencephaloceles are rare entities and diagnostic difficulties can occur. We present two cases whose presentation was atypical and diagnosis delayed by the presence of dual pathology.

Barium appendicitis after upper gastrointestinal imaging.

PubMed

Novotny, Nathan M; Lillemoe, Keith D; Falimirski, Mark E

2010-02-01

Barium appendicitis (BA) is a rarely seen entity with fewer than 30 reports in the literature. However, it is a known complication of barium imaging. To report a case of BA in a patient whose computed tomography (CT) scan was initially read as foreign body ingestion. An 18-year-old man presented with right lower quadrant pain after upper gastrointestinal imaging 2 weeks prior. A CT scan was obtained of his abdomen and pelvis that revealed a finding that was interpreted as a foreign body at the area of the terminal ileum. A plain X-ray study of the abdomen revealed radiopaque appendicoliths. Pathology confirmed the diagnosis of barium appendicitis. BA is a rare entity and the pathogenesis is unclear. Shorter intervals between barium study and presentation with appendicitis usually correlate with fewer complications. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant

PubMed Central

Maré, Anton; Wickramasinghe, Shehan; Ilie, Victor; Mulcahy, Maurice

2016-01-01

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential. PMID:26989374

Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant.

PubMed

Maré, Anton; Wickramasinghe, Shehan; Ilie, Victor; Mulcahy, Maurice

2016-02-01

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential.

Granular cell tumour of the neurohypophysis: an unusual cause of hypopituitarism.

PubMed

Bello, Carlos Tavares; Cipriano, Patricia; Henriques, Vanessa; Duarte, João Sequeira; Marques, Conceição Canas

2018-01-01

Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity. Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.Surgical excision is challenging due to lesion's high vascularity and propensity to adhere to adjacent structures.The reported case is noteworthy for the rarity of the clinicopathological entity.

Salmonella Typhimurium pneumonia in a patient with multiple myeloma.

PubMed

Khan, Sadia; Kumar, V Anil; Sidharthan, Neeraj; Mehta, Asmita; Backer, Binita; Dinesh, Kavitha R

2015-04-01

Pneumonia due to non-typhoidal Salmonella is a rarely reported entity. A fatal case of Salmonella pneumonia is reported here where Salmonella Typhimurium was isolated from the endotracheal aspirate and blood culture. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE); a rare association with phyllodes tumour of breast.

PubMed

Sarkar, R N; Phaujdar, Sibaji; Banerjee, Siwalik; Siddhanta, Sattik; De, Dibyendu; Bhattachary, Kuntal; Pal, Hare Krishna

2012-04-01

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare entity mainly found in elderly males. It is characterized by pitting edema mainly of dorsum of both hands giving a "boxing glove hand" appearance; rarely involving feet also, acute in onset, negative rheumatoid factor and a good response to low dose corticosteroid therapy. Clinically it almost resembles a case of polymyalgia rheumatica, late onset rheumatoid arthritis or other seronegative spondyloarthropathy.Though there are multiple underlying factors causing this rare entity but it has very close associations with many malignancies.So far its association with solid tumours and hematological malignancies has been reported. Phyllodes tumour of breast shows wide spectrum of activity from a benign condition to a locally aggressive and sometimes metastatic tumour.One fourth of the cases recur after definitive treatment.Our case represent an unusual association with recurrent phyllodes tumour of breast with RS3PE.

Mucinous Cystadenocarcinoma of the Breast: Report of 2 Cases Including One With Long-Term Local Recurrence.

PubMed

Nayak, Anupma; Bleiweiss, Ira J; Dumoff, Kimberly; Bhuiya, Tawfiqul A

2018-05-01

Primary mucinous cystadenocarcinoma (MCA) of breast is an exceedingly rare tumor with histologic resemblance to MCA arising in ovary, pancreas, and gastrointestinal tract. In this article, we present 2 additional cases of MCA of breast, one highlighting the diagnostic challenges of a rare entity that may potentially lead to unnecessary chemotherapy and the second case presenting with recurrence after 8 years of primary surgical excision defying the indolent behavior reported in the literature. To our knowledge, this is the first reported instance of such behavior.

Peritoneal Lipomatosis: A Case Report of a 12-Year-Old Boy

PubMed Central

Fotis, L.; Koglmeier, J.; Shah, N.

2013-01-01

Peritoneal lipomatosis is a rare disease in childhood with only two cases previously described in children. We report a further case of a 12-year-old boy diagnosed with peritoneal lipomatosis. His main symptoms were abdominal pain, alternating bowel habit, abdominal distension, and melaena. His diagnostic work up included an abdominal MRI, wireless capsule endoscopy and single-balloon enteroscopy. Peritoneal lipomatosis although rare can be diagnosed in childhood. It is a benign clinical entity with variable manifestations. PMID:23762668

Role of endoscopy in recalcitrant intraventricular tuberculoma-innovative novel treatment adjunct.

PubMed

Udayakumaran, Suhas; Nair, Prakash; Kumar, Anil; Panikar, Dilip

2014-09-15

Introduction. Intraventricular tuberculomas are rare entities. To the best of our knowledge, only 14 cases have been reported in English literature. Medical management of cerebral tuberculomas is well accepted. Intraventricular tuberculomas may be recalcitrant for unclear reasons. An effective management protocol for this entity is unclear. To the best of our knowledge, the definitive indication, timing, and possible role of surgery in these lesions have not been discussed in literature. Materials and methods. A 27-year-old nursing professional who was undergoing treatment for miliary tuberculosis at another center presented to us in 2008 with right hemiparesis, deteriorating vision, and progressive decline in consciousness. In addition to antituberculous therapy (ATT), she underwent multiple CSF diversion procedures for the obstructive hydrocephalus secondary to a recalcitrant third ventricular tuberculoma. Finally, she underwent endoscopic decompression of the lesion with a very good clinical response at 1-year follow-up. Discussion. We discuss a patient with recalcitrant intraventricular tuberculoma managed using neuroendoscopy along with the standard antituberculous therapy. We also discuss in detail the technique we utilized for endoscopic management of this lesion. Conclusion. Being a rare entity, a consensus for management of these lesions is not possible, but we have demonstrated that neuroendoscopic management of these rare entities is an option giving the advantage of definitive diagnosis when required, hastening the resolution, and clearing the CSF pathway.

Solitary plasmacytoma of the mandible - a rare entity.

PubMed

Baad, Rajendra; Kapse, Sonam C; Rathod, Nanita; Sonawane, Kishor; Thete, Sanjay Gangadhar; Kumar, M Naveen

2013-06-01

Plasma cell dyscrasias (multiple myeloma, solitary plasmocytoma of bone and extra medullary plasmocytoma) are cha¬racterized by a monoclonal neoplastic proliferation of plasma cells of which Solitary plasmocytoma of bone (SPB) is a localized form. SPB is most frequently seen in vertebrae and secondarily in long bones. Its presence in jaws is extremely rare. The malignant plasma cells express monotypic cytoplasmic immunoglobulins and plasma cell-associated antigens, with an absence of immature B-cell antigens. Here we report a unique case of plasmacytoma in the right side of mandible, a chronology for diagnosis of the lesion is also reviewed along with clinical, radiographic, histopathological and immunohistochemical evidence. How to cite this article: Baad R, Kapse S C, Rathod N, Sonawane K, Thete S G, Naveen M K. Solitary Plasmacytoma of the Mandible - A Rare Entity. J Int Oral Health 2013; 5(3):97-101.

Keratinizing dentigerous cyst

PubMed Central

Sivasankar, Vaishnavi; Ranganathan, Kannan; Praveen, B

2014-01-01

Keratinizing dentigerous cyst is a rare entity. This article reports a case of keratinizing dentigerous cyst associated with an impacted mandibular canine. Clinical and radiological features, cone-beam computed tomography findings and histological features of the case are reported along with a discussion on keratinizing odontogenic cysts and the need for follow-up. PMID:24808713

Osteolytic Bone Lesions - A Rare Presentation of AML M6.

PubMed

Geetha, N; Sreelesh, K P; Priya, M J; Lali, V S; Rekha, N

2015-01-01

Acute myeloid leukemia (AML) M6 is a rare form of AML accounting for < 5 % of all AML. Extramedullary involvement is very rarely seen in this entity. Skeletal lesion has not been described in AML M6 before. We discuss the case of a 17 year old boy with AML M6, who presented with osteolytic lesion of right humerus. He was treated with induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.

Simultaneous liver mucinous cystic and intraductal papillary mucinous neoplasms of the bile duct: a case report.

PubMed

Budzynska, Agnieszka; Hartleb, Marek; Nowakowska-Dulawa, Ewa; Krol, Robert; Remiszewski, Piotr; Mazurkiewicz, Michal

2014-04-14

Cystic hepatic neoplasms are rare tumors, and are classified into two separate entities: mucinous cystic neoplasms (MCNs) and intraductal papillary mucinous neoplasms of the bile duct (IPMN-B). We report the case of a 56-year-old woman who presented with abdominal pain and jaundice due to the presence of a large hepatic multilocular cystic tumor associated with an intraductal tumor. Partial hepatectomy with resection of extrahepatic bile ducts demonstrated an intrahepatic MCN and an intraductal IPMN-B. This is the first report of the simultaneous occurrence of these two histologically distinct entities in the liver.

Primary tubercular abscess of the breast--an unusual entity.

PubMed

Gupta, R; Singal, R P; Gupta, A; Singal, S; Shahi, S R; Singal, R

2012-02-22

Primary breast tuberculosis manifested as abscess is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. Abscess was drained and tissue sent for histopathology. To our surprise, diagnosis came as breast tuberculosis. Aspiration cytology was not done, as it is not a routine test for abscess cases. Patient was put on anti- tubercular drugs. In the follow-up of 6 months, she was asymptomatic and advised to continue medicine.

[Primary perivascular epitheloid cell tumour (PEComa) of the liver - is a new entity of the liver tumors?].

PubMed

Panahova, S; Rempp, H; Sipos, B; Malek, N P; Boozari, B

2015-05-01

Perivascular epitheloid cell tumor (PEComa) is a rare tumor, characterized by dual Expression of smooth muscle and melanocytic markers. Due to the development of diagnostic procedures, we now diagnose PEComa more often. We report about a case of PEComa of the liver as an accidental finding. We analyze the clinical and morphological characteristics of this tumor and compare it with the data of the literature. Management of patients with PEComa is not yet standardized; therefore biopsy with immunhistochemical staining is necessary for the diagnosis. In case of liver tumors which cannot be classified by their morphology on imaging modalities, it is important to think about this rare entity. © Georg Thieme Verlag KG Stuttgart · New York.

Cutaneous silica granuloma. A rare entity or rarely diagnosed Report of two cases with review of the literature

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mowry, R.G.; Sams, W.M. Jr.; Caulfield, J.B.

1991-05-01

Cutaneous silica granuloma is a poorly understood, uncommon condition that may mimic cutaneous sarcoidosis. We describe two cases of this entity and their characteristic latency period (between the time of silica exposure to the time of clinical onset of granuloma). We also review the histologic and energy dispersive x-ray analysis data, which prove the diagnosis. This condition should be recognized as an occupational dermatosis as well as the result of past incidental cuts or abrasions, which result in the development of granulomas, many in old wound scars. Differentiation from cutaneous sarcoidosis is possible with polarized light microscopy and energy-dispersive x-raymore » analysis.15 references.« less

Report of a rare case and review of adult intestinal duplication at the opposite side of mesenteric margin.

PubMed

Huang, Zhi-Hao; Wan, Zi-Hao; Vikash, Vikash; Vikash, Sindhu; Jiang, Cong-Qing

2018-01-01

To study the previously discovered clinical entity of adult intestinal duplication and its treatment, and propose an extension to its existing classification. We report the case of an adult male with abdominal pain, constipation and vomiting. This patient underwent surgical separation of adhesions, reduction of torsion and intestinal decompression. Postoperative pathological findings confirmed the rare diagnosis of intestinal duplication. Adult intestinal duplication is quite rare. Its clinical manifestations are nonspecific. From this finding of intestinal duplication originating at the opposite side of the mesenteric margin, a further extension of the existing anatomical classification is proposed.

Auto immune hemolytic anemia in a child precipitated by chicken pox.

PubMed

Billoo, Samina Shamim; Jamalvi, Syed Waseem

2008-05-01

Auto Immune Hemolytic Anemia (AIHA) is a rare entity in children. We report a case of an adolescent girl with AIHA, which was precipitated by chicken pox. Clinical course over 3 years, till remission is described.

[Epithelioid hemangioendothelioma: an uncommon liver tumor].

PubMed

Pareja, Eugenia; Cortés, Miriam; Rayon, Miguel; Moya, Angel; Mir, Jose

2010-01-01

We report the case of a female patient who was referred to our unit because of a solid liver tumor, suggestive of metastasis. After biopsy, the patient was diagnosed with epithelioid hemangioendothelioma of the liver. Epithelioid hemangioendothelioma is a rare entity with an unpredictable, potentially fatal, clinical course and outcome. Due to its rarity, this entity should be considered when a solitary hepatic lesion is detected and should be included in the differential diagnosis with liver metastases. We highlight the infrequency of this tumor, its presentation as a solitary hepatic lesion and the indication of surgical treatment. We describe the clinical and pathological characteristics of epithelioid hemangioendothelioma of the liver and report a new case of this entity. The distinct therapeutic options are discussed. Copyright 2010 Elsevier España, S.L. All rights reserved.

Primary Segmental Volvulus Mimicking Ileal Atresia

PubMed Central

Rao, Sadashiva; B Shetty, Kishan

2013-01-01

Neonatal intestinal volvulus in the absence of malrotation is a rare occurrence and rarer still is the intestinal volvulus in absence of any other predisposing factors. Primary segmental volvulus in neonates is very rare entity, which can have catastrophic outcome if not intervened at appropriate time. We report two such cases, which were preoperatively diagnosed as ileal atresia and intraoperatively revealed to be primary segmental volvulus of the ileum. PMID:26023426

Congenital Eccrine Angiomatous Hamartoma: A Rare Entity Revisited

PubMed Central

Mendiratta, Vibhu; Malik, Meenu; Agrawal, Mahima; Jain, Manjula; Gupta, Brijnandan

2018-01-01

Eccrine angiomatous hamartoma (EAH) is a rare benign malformation characterized by eccrine and vascular components. It usually presents at birth or during early infancy or childhood on lower extremities as a nodule or plaque. We report a case of asymptomatic tumoral swelling over the left leg in a 5-month-old Indian infant since birth. This was diagnosed as EAH on histopathology and confirmed on immunohistochemistry. PMID:29854641

Postoperative Gastric Perforation in a Newborn with Duodenal Atresia.

PubMed

Antabak, Anko; Bogović, Marko; Vuković, Jurica; Grizelj, Ruža; Babić, Vinka Barbarić; Papeš, Dino; Luetić, Tomislav

2016-01-01

Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation.

Multiple lymphomatous polyposis.

PubMed

Kadayifçi, A; Benekli, M; Savaş, M C; Arslan, S; Uzunalimoğlu, B; Barişta, I; Güllü, I H; Tekuzman, G

1997-04-01

Multiple lymphomatous polyposis (MLP) is a distinctive and particularly rare clinical type of malignant gastrointestinal lymphoma, which is classified as B-cell centrocytic non-Hodgkin's lymphoma. this rare entity has been recently reclassified as mantle cell lymphoma. We herein report three additional cases of MLP involving various segments of the gastrointestinal tract. MLP has an aggressive biologic behavior and a relatively poor prognosis and must be treated accordingly as a high-grade lymphoma with systemic chemotherapy.

Giant Circumflex Artery Aneurysm with a Coronary Sinus Fistula.

PubMed

Libertini, Richard; Walbridge, David; Jones, Hefin R; Gunning, Mark; Satur, Christopher Mr

2018-05-12

Giant coronary artery aneurysms (GCCAA) are extremely rare entities, and of the circumflex artery we are aware of only 13 case reports. We therefore provide this case report to add evidence of the natural history and pathophysiology and describe successful surgical treatment of the condition. Copyright © 2018. Published by Elsevier Inc.

Giant spigelian hernia due to abdominal wall injury: a case report.

PubMed

Topal, Ersun; Kaya, Ekrem; Topal, Naile Bolca; Sahin, Ilker

2007-02-01

Spigelian hernia is a rare clinical entity. It is difficult to diagnose due to its location. In this article we report the case of a giant spigelian hernia consequent to abdominal wall injury. The neck of the hernia was 10 cm in diameter. We repaired this hernia with a polypropylene mesh.

Rapid Resolution of Traumatic Pneumatocyst in the Cervical Spine: A Case Report

PubMed Central

Park, Jae Hoo; Kim, Hyeun Sung; Ko, Jae Ung

2015-01-01

Intraosseous pneumatocyst is a benign, gas-filled, cystic lesion, and is commonly encountered in iliac bone or sacrum. Other locations of this lesion following trauma are rare, and only a handful of isolated cases have been reported. The pathogenesis and etiologies of this uncommon entity are various and it can present a diagnostic challenge. Only four previous cases have described the natural course of intravertebral pneumatocysts. Here, the authors report a rare case of traumatic pneumatocyst, which resolved rapidly without further complication. Possible pathogenic mechanisms are discussed and reviews of literatures are included. PMID:26217389

Rapid Resolution of Traumatic Pneumatocyst in the Cervical Spine: A Case Report.

PubMed

Park, Jae Hoo; Kim, Seok Won; Kim, Hyeun Sung; Ko, Jae Ung

2015-06-01

Intraosseous pneumatocyst is a benign, gas-filled, cystic lesion, and is commonly encountered in iliac bone or sacrum. Other locations of this lesion following trauma are rare, and only a handful of isolated cases have been reported. The pathogenesis and etiologies of this uncommon entity are various and it can present a diagnostic challenge. Only four previous cases have described the natural course of intravertebral pneumatocysts. Here, the authors report a rare case of traumatic pneumatocyst, which resolved rapidly without further complication. Possible pathogenic mechanisms are discussed and reviews of literatures are included.

Acute non-traumatic spinal subdural haematoma: an unusual aetiology.

PubMed

Seizeur, Romuald; Ahmed, Seddik Sid; Simon, Alexandre; Besson, Gérard; Forlodou, Pierre

2009-06-01

We report an unusual case of a spinal subdural haematoma associated with a ruptured spinal aneurysm. The delayed diagnosis or misdiagnosis of this rare entity can have disastrous consequences. We discuss various possible aetiologies and its association with spinal aneurysms.

Case Report-Inguinoscrotal ureteral hernia diagnosed on micturating cystourethrography.

PubMed

Sripathi, Smiti; Rajagopal, Kv; Kakkar, Chandan; Polnaya, Ashwin

2011-07-01

The presence of a ureter within an inguinal hernia is an extremely rare entity, usually discovered incidentally during herniorrhaphy and may pose a surgical risk. Early preoperative diagnosis is crucial to guide proper surgical approach and to preserve renal function.

Bilateral maxillary brown tumors in a patient with primary hyperparathyroidism: Report of a rare entity and review of literature

PubMed Central

Soundarya, N; Sharada, P; Prakash, Nilima; Pradeep, GL

2011-01-01

Brown tumors are erosive bony lesions caused by rapid osteoclastic activity and peritrabecular fibrosis due to hyperparathyroidism, resulting in a local destructive phenomenon. The classical “brown tumor” is commonly seen in ends of long bones, the pelvis and ribs. Facial involvement is rare and, when present, usually involves the mandible. We report a case of 60-year-old male with a rare initial presentation of primary hyperparathyroidism with bilateral maxillary brown tumors. The present case represents the third report of the bilateral maxillary brown tumors in a patient with primary hyperparathyroidism. Differential diagnosis is important for the right treatment choice. It should exclude other giant cell lesions that affect the maxillae. PMID:21731279

Primary tubercular abscess of the breast – an unusual entity

PubMed Central

Gupta, R; Singal, RP; Gupta, A; Singal, S; Shahi, SR; Singal, R

2012-01-01

Primary breast tuberculosis manifested as abscess is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. Abscess was drained and tissue sent for histopathology. To our surprise, diagnosis came as breast tuberculosis. Aspiration cytology was not done, as it is not a routine test for abscess cases. Patient was put on anti- tubercular drugs. In the follow-up of 6 months, she was asymptomatic and advised to continue medicine. PMID:22574095

Preoperative diagnosis of bicipitoradial bursitis: a case report.

PubMed

Aldhilan, Asim Saleh

2014-01-01

Inflammation of the bicipitoradial bursa is a rare condition and only few reports can be found in literature. Several causes for a cubital bursitis have been suggested in the past. The need to include a malignant lesion in the differential diagnosis has only been mentioned in one of these reports. May main objective in reporting this case is to make this pathological entity better known.

Preoperative diagnosis of bicipitoradial bursitis: a case report

PubMed Central

Aldhilan, Asim

2014-01-01

Inflammation of the bicipitoradial bursa is a rare condition and only few reports can be found in literature. Several causes for a cubital bursitis have been suggested in the past. The need to include a malignant lesion in the differential diagnosis has only been mentioned in one of these reports. May main objective in reporting this case is to make this pathological entity better known. PMID:25018791

A case of penile fracture at the crura of the penis without urethral involvement: Rare entity.

PubMed

Srinivas, B V; Vasan, S S; Mohammed, Sajid

2012-07-01

Penile fracture is a rare injury, most commonly sustained during sexual intercourse. We report the case of a 29-year-old man who presented with bilateral rupture of the crura of the cavernosa without urethral injury. This is the first case in the literature to present with this unique finding. Urgent surgical exploration was performed and the injuries repaired primarily. At follow-up, the patient reported satisfactory erectile function. This case highlights the importance of early diagnosis with unusual presentation and early surgical repair for better outcome.

Streptococcal toxic shock syndrome following total thyroidectomy.

PubMed

Hung, J A Z; Rajeev, P

2013-10-01

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity.

Streptococcal toxic shock syndrome following total thyroidectomy

PubMed Central

Hung, J AZ

2013-01-01

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity. PMID:24112488

Bilateral Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Breast: A Very Rare Entity and Review of the Literature

PubMed Central

Majid, N.; Amrani, M.; Ghissassi, I.; El Cadi, M.; El Bouzidi, M.; El Kabous, M.; Kherbach, A.; Errihani, H.

2013-01-01

Peripheral primitive neuroectodermal tumors (PNET) are rare malignant tumors, affecting mostly children and adolescents and have been described in breast in eight case reports only. In this paper, we present a case of bilateral mammary ES/PNET where distinction between primary and metastatic diseases was discussed through a literature review. The aim of this work is to demonstrate that although rare, the possibility of PNET should be kept in mind while evaluating a palpable breast abnormality in a young female. PMID:23819085

Neonatal Intrathoracic Stomach without Gastric Volvulus.

PubMed

Bokka, Sriharsha; Mohanty, Manoj Kumar

2016-10-01

Intrathoracic stomach is a rare and serious congenital abnormality. The anomaly may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. If diagnosed antenatally, neonatal management can be planned in advance so as to reduce morbidity. This anomaly must be differentiated from the more common congenital diaphragmatic hernia, as associated pulmonary hypoplasia is common in the latter and rare with gastric herniation. We report a case of intrathoracic stomach in a neonate without volvulus, fortunately a rare entity which was managed operatively, and the child has been under regular follow-up.

An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

PubMed

Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

2018-05-01

Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

A Rare Case of Ileocecal Tuberculosis with Pulmonary Embolism and Deep Vein Thrombosis

PubMed Central

Henry, Tan Chor Lip; Ho, Choon Aik; Mohamad, Yuzaidi

2017-01-01

Venous thromboembolism in tuberculosis is not a well recognised entity. It is a less frequently reported complication of severe pulmonary tuberculosis. It is exceedingly rare when it complicates extrapulmonary tuberculosis. Here, we present a case of 22-year-old young female with abdominal tuberculosis complicated with reverse ileocecal intussusception, deep vein thrombosis and pulmonary embolism. An emergency vena cava filter was inserted prior to a limited right hemicolectomy. In this article, we discuss the rare association of venous thromboembolism with ileocecal tuberculosis. PMID:28892968

Case Report-Inguinoscrotal ureteral hernia diagnosed on micturating cystourethrography

PubMed Central

Sripathi, Smiti; Rajagopal, KV; Kakkar, Chandan; Polnaya, Ashwin

2011-01-01

The presence of a ureter within an inguinal hernia is an extremely rare entity, usually discovered incidentally during herniorrhaphy and may pose a surgical risk. Early preoperative diagnosis is crucial to guide proper surgical approach and to preserve renal function. PMID:22013295

“Partial duplication of lower lip and hemimandible” A rare case

PubMed Central

Nayak, Bibhuti Bhusan; Mohanty, Nilamani

2012-01-01

Duplication of mandible and lower lip is a very rare congenital entity. We report an extremely uncommon case of Congenital Duplication of Lower lip and Mandible in a 3 year old girl, who was treated surgically in a single stage for correction of both lip and mandible. This was a commissure preserving single staged procedure. The Surgical procedure, the problems related to this anomaly and the embryology are discussed. PMID:23450337

Postoperative Gastric Perforation in a Newborn with Duodenal Atresia

PubMed Central

Antabak, Anko; Bogović, Marko; Vuković, Jurica; Grizelj, Ruža; Babić, Vinka Barbarić; Papeš, Dino; Luetić, Tomislav

2016-01-01

Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation. PMID:27896170

Riedel thyroiditis: Fine needle aspiration findings of a rare entity.

PubMed

Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S

2015-09-01

Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.

A rare case of mycetoma due to curvularia.

PubMed

Shinde, Rupali S; Hanumantha, Sreedevi; Mantur, Basappa G; Parande, Mahantesh V

2015-01-01

Mycetoma due to Curvularia is a rare clinical entity. Here, we report a case of 27-year-old female presented with multiple swellings and discharging wounds around left shoulder joint since 12 years. Local examination showed diffuse nodular swellings over left anterior chest wall, posterior chest wall, and axilla. Multiple nodules and discharging sinuses were seen. Fungal culture of the biopsy of the lesion revealed Curvularia species. Patient showed significant clinical improvement with itraconazole therapy.

Rapid brain death caused by a cerebellar abscess with Fusobacterium nucleatum in a young man with drug abuse: a case report.

PubMed

Hischebeth, Gunnar T R; Keil, Vera C; Gentil, Katrin; Boström, Azize; Kuchelmeister, Klaus; Bekeredjian-Ding, Isabelle

2014-06-10

Fusobacterium nucleatum is a strict anaerobic microorganism that causes disease entities such as periodontal and soft tissue abscesses, pulmonary and intraabdominal infections and very rarely intracerebral infections. Here, we report the rare case of a previously healthy 25-year-old German man with a cerebellar abscess caused by Fusobacterium nucleatum that resulted in rapid brain death. Toxicological screening showed positivity for amphetamines and cannabis. The diagnosis was obtained by polymerase chain reaction amplification of bacterial deoxyribonucleic acid in cerebrospinal fluid. In drug users clinicians should think about rare causes of brain abscesses/meningitis. Early diagnosis is necessary and justifies the use of molecular techniques.

Multifocal Epithelial Hyperplasia of Oral Cavity Expressing HPV 16 Gene: A Rare Entity

PubMed Central

Prabhat, M. P. V.; Raja Lakshmi, Chintamaneni; Sai Madhavi, N.; Bhavana, Sujana Mulk; Sarat, Gummadapu; Ramamohan, Kodali

2013-01-01

Focal epithelial hyperplasia is a rare contagious disease caused by human papilloma virus. Usually HPV involves either cutaneous or mucosal surfaces, whereas concomitant mucocutaneous involvement is extremely rare. We report such a unique case of multifocal epithelial hyperplasia involving multiple sites of oral cavity along with skin lesions in a 65-year-old female. We also discuss the probable multifactorial etiology and variable clinical presentations of the lesions, including evidence of HPV 16 expression, as detected by polymerase chain reaction. The present report illustrates the need for careful examination and prompt diagnosis of the disease, as it might be associated with high risk genotypes such as HPV 16 and 18. PMID:24455323

Unilocular cystic lymphangioma of thigh-an extremely rare clinical entity.

PubMed

Thakur, Sudhir Kumar

2010-10-01

Majority of cystic lymphangiomas are multilocular and occur in neck and axilla. The cystic lymphangioma is also known as cystic hygroma. Unilocular cystic hygroma of neck and breast have been reported in literature and have been termed hydrocele of neck and breast respectively. However unilocular cystic hygroma of thigh is probably being reported for the first time.

Myxedema Coma with Reversible Cardiopulmonary Failure: a Rare Entity in 21St Century.

PubMed

Dhakal, Prajwal; Pant, Manisha; Acharya, Pranab Sharma; Dahal, Sumit; Bhatt, Vijaya Raj

2015-09-01

Myxedema coma, a rare entity in 21st century in developed nations, is a decompensated phase of hypothyroidism with high mortality rates. We describe a young woman with myxedema, who developed respiratory failure, congestive heart failure and significant pericardial effusion, some of the uncommon manifestations. Decreased cardiac contractility can result in cardiomyopathy and heart failure. As illustrated by this case, myxedema can also result in significant pericardial effusion due to increased vascular permeability. Myxedema can further be complicated by alveolar hypoventilation and respiratory failure secondary to the lack of central drive as well as respiratory muscle weakness. Prompt therapy with thyroid hormone replacement, glucocorticoid therapy, aggressive supportive care and management of the precipitating event can save lives and reverse the cardiopulmonary symptoms, as in our patient. Hence, physicians should have a high index of suspicion for myxedema coma in patients with unexplained cardiopulmonary failure. Our report is, therefore, aimed at bringing awareness about the rare but fatal manifestations of myxedema coma.

Dilated cardiomyopathy with short QT interval: is it a new clinical entity?

PubMed

Bohora, Shomu; Namboodiri, Narayanan; Tharakan, Jaganmohan; Vk, Ajit Kumara; Nayyar, Sachin

2009-05-01

Short QT syndrome is a rare autosomal dominant channelopathy of structurally normal hearts characterized by atrial fibrillation, ventricular arrhythmias, and sudden cardiac death. We report a case having short QT, dilated ventricles, and severe ventricular dysfunction, an unreported association so far.

Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature.

PubMed

Çetinkaya, Merih; Durmaz, Oguzhan; Büyükkale, Gökhan; Ozbek, Sibel; Acar, Deniz; Kilicaslan, Isin; Kavuncuoglu, Sultan

2013-07-01

Non-immune hydrops fetalis (NIHF) is a challenging entity as it represents the end stage of several different disorders. Renal and genitourinary causes of NIHF are rare and include congenital renal malformations, tumors and ureter-urethra disorders. Herein, two NIHF cases with different renal causes were presented. The first case that had antenatal NIHF was diagnosed neonatal Bartter syndrome. The second case of NIHF with antenatal large cyst in the surrenal gland area required surgery and ectopic renal cyst was diagnosed. To our best of knowledge, these are the first reports of NIHF associated with neonatal Bartter syndrome and ectopic renal cyst in neonates. Although it may be coincidental, these cases suggest that both neonatal Bartter syndrome and unilateral ectopic renal cyst may cause NIHF development in neonates by several different mechanisms. Therefore, these two rare entities should be suspected in cases of NIHF with similar findings.

Suspected Legionella-induced perimyocarditis in an adult in the absence of pneumonia: a rare clinical entity.

PubMed

Burke, Peter T; Shah, Roshni; Thabolingam, Raveend; Saba, Souheil

2009-01-01

Legionella infection can manifest itself in many clinical forms, most commonly as pneumonia, but rarely in the form of myocardial involvement. Legionella with myocardial involvement independent of pneumonia is almost never seen in the adult population and therefore is cited only a handful of times in the medical literature. When reported, Legionella carditis itself typically occurs as an isolated pericarditis with effusion. Cases of isolated Legionella with myocardial involvement, but without associated pneumonia, have been reported among children. To our knowledge, there are no reported cases of Legionella myocarditis and pericarditis presenting concurrently with or without pneumonia, in either an adult or a pediatric population. Herein, we report a rare manifestation of Legionella pneumophila-induced perimyocarditis (strongly suspected, if not incontrovertibly proved) in an adult, in the absence of pneumonia.

Bilateral Video-Assisted Thoracoscopic Surgery Resection for Multiple Mediastinal Myelolipoma: Report of a Case

PubMed Central

Kohno, Tadasu; Mun, Mingyon; Yoshiya, Tomoharu

2014-01-01

Myelolipoma in the mediastinum is an extremely rare entity. In this report, we present the case of a 79-year-old asymptomatic man who had three bilateral paravertebral mediastinal tumors. The three tumors were resected simultaneously using bilateral three-port video-assisted thoracoscopic surgery (VATS). There has been no evidence of recurrence within four years after the operation. Multiple bilateral mediastinal myelolipomas are extremely rare. There are no reports in the English literature of multiple bilateral thoracic myelolipomas that were resected simultaneously using bilateral VATS. We also present characteristic features of myelolipomas, which are helpful for diagnosis. PMID:24782978

Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.

PubMed

Dotta, Laura; Badolato, Raffaele

2014-10-01

Recurrent or prolonged severe infections associated to panleukopenia strongly suggest primary immune disorders. In recent years, new immunodeficiency syndromes turned up: besides the importance of continuous clinical characterization throughout added reports, the phenotype can easily lead to diagnosis of known rare entities. Our purpose is to review main emerging genetic syndromes featuring lymphopenia combined to neutropenia and/or monocytopenia in order to facilitate diagnosis of rare primary immune deficiencies. Copyright © 2013 Elsevier B.V. All rights reserved.

Chromoblastomycosis due to Fonsecaea pedrosoi: an old wine in a rare bottle.

PubMed

Khan, Sadia; Kumar, Anil; Vinod, Vivek; Prabhakar, Vivek; Eapen, Malini; Thomas, Jacob; Dinesh, Kavitha; Karim, Shamsul

2015-03-15

Chromoblastomycosis is a chronic subcutaneous mycosis commonly caused by Fonsecaea, Phialophora, and Cladophialophora spp. Out of these, Fonsecaea pedrosoi is the most common etiological agent, implicated in 70%-90% of the cases reported worldwide. The histopathological diagnosis of chromoblastomycosis is based on visualization of medlar or sclerotic bodies in the tissue. These sclerotic bodies divide by planar division. Rarely, budding is seen in these sclerotic bodies. As this entity can be confused with phaeohyphomycosis, it is important to be aware of such a presentation also. We report two cases of chromoblastomycosis that showed budding sclerotic bodies.

Streptococcal toxic shock syndrome after breast reconstruction.

PubMed

Agerson, Ashley N; Wilkins, Edwin G

2005-05-01

Streptococcal toxic shock syndrome (STSS) is an increasingly common disease entity but has rarely been described in the plastic surgery literature. We present the first known case of STSS associated with a reconstructive procedure. Two weeks postoperatively from a transverse rectus abdominis musculocutaneous flap for breast reconstruction, our patient presented with flulike symptoms and progressed rapidly to multiorgan failure. Though initially no nidus for infection was evident, the abdominal donor site was surgically debrided and found to contain group A Streptococcus. Following aggressive rehydration and antibiotic therapy, the patient gradually made a full recovery. In this case report, we review the presentation and epidemiology of STSS and compare it to the more common staphylococcal toxic shock syndrome. In addition, we discuss the management and outcomes of STSS, with an emphasis on raising clinical suspicion for this rare but dangerous entity.

A rare case of atypical pleomorphic adenoma arising from periocular ectopic lacrimal gland.

PubMed

Wajda, Brynn N; Mancini, Ronald; Evers, Bret; Nick Hogan, R

2018-06-23

To describe features of atypical pleomorphic adenoma, a rare clinical entity, particularly when found in ectopic periocular lacrimal gland tissue. Case report of biopsy-confirmed periocular atypical pleomorphic adenoma. A 35-year-old female presented with a unique orbital lesion found to be ectopic lacrimal gland demonstrating atypical pleomorphic adenoma on formal histopathologic review. Pleomorphic adenoma is pathologically characterized as an epithelial lesion intermixed with mesenchymal elements. It is further classified as atypical with the presence of features such as hypercellularity, regions of necrosis or hyalinization, cellular dysplasia, capsular violation, and malignant characteristics without frank local extension or distant metastases. Due to its rarity, the natural history and prognosis of atypical pleomorphic adenoma is unclear. Physicians need to recognize this entity, and complete surgical excision with strict follow-up regimens are likely warranted.

Osteochondrosis of the inferior pole of the scapula (Roca disease).

PubMed

Skaf, Abdalla; Taneja, Atul K

2014-03-01

We report a rare case of osteochondrosis of the inferior pole of the scapula in a 14-year-old boy, an amateur swimmer, that was diagnosed by a combination of clinical and imaging findings. Also known as Roca disease, this is the first article to report this entity in the English literature and demonstrates its computerized tomography and MRI features.

Dupuytren in a Child: Rare Presentation of a Rare Clinical Entity.

PubMed

Spyropoulou, Georgia-Alexandra; Pavlidis, Leonidas; Milothridis, Panagiotis; Zaraboukas, Thomas; Demiri, Efterpi

2016-12-01

Dupuytren disease in children younger than 10 years is rare and only 8 histologically proven cases have been reported. A histologically proven Dupuytren disease in a 10-year-old with an uncommon clinical presentation as a nodule on the radial side of the middle phalanx of the little finger is documented. Dupuytren's disease should be in the differential diagnosis in cases of nodules and contractures in the palm and fingers of children. Copyright © 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Primary signet ring cell carcinoma of the appendix: A rare case report and our 18-year experience

PubMed Central

Ko, Yoon Ho; Jung, Chan-Kwon; Oh, Soon Nam; Kim, Tae Hee; Won, Hye Sung; Kang, Jin Hyoung; Kim, Hyung Jin; Kang, Won Kyung; Oh, Seong Taek; Hong, Young Seon

2008-01-01

Primary adenocarcinoma of the appendix is a rare malignancy that constitutes < 0.5% of all gastrointestinal neoplasms. Moreover, primary signet ring cell carcinoma of the appendix is an exceedingly rare entity. We have encountered 15 cases of primary appendiceal cancer among 3389 patients who underwent appendectomy over the past 18 years. In the present report, we describe a rare case of primary signet ring cell carcinoma of the appendix with ovarian metastases and unresectable peritoneal dissemination occurring in a 67-year-old female patient. She underwent appendectomy and bilateral salpingo-oophorectomy with a laparoscopy procedure. She then received palliative systemic chemotherapy with 12 cycles of oxaliplatin, 5-fluorouracil, and leucovorin (FOLFOX-4). The patient currently is well without progression of disease 12 mo after beginning chemotherapy. PMID:18837098

Rapid brain death caused by a cerebellar abscess with Fusobacterium nucleatum in a young man with drug abuse: a case report

PubMed Central

2014-01-01

Background Fusobacterium nucleatum is a strict anaerobic microorganism that causes disease entities such as periodontal and soft tissue abscesses, pulmonary and intraabdominal infections and very rarely intracerebral infections. Case presentation Here, we report the rare case of a previously healthy 25-year-old German man with a cerebellar abscess caused by Fusobacterium nucleatum that resulted in rapid brain death. Toxicological screening showed positivity for amphetamines and cannabis. The diagnosis was obtained by polymerase chain reaction amplification of bacterial deoxyribonucleic acid in cerebrospinal fluid. Conclusions In drug users clinicians should think about rare causes of brain abscesses/meningitis. Early diagnosis is necessary and justifies the use of molecular techniques. PMID:24915846

Multimodality Imaging Approach towards Primary Aortic Sarcomas Arising after Endovascular Abdominal Aortic Aneurysm Repair: Case Series Report.

PubMed

Kamran, Mudassar; Fowler, Kathryn J; Mellnick, Vincent M; Sicard, Gregorio A; Narra, Vamsi R

2016-06-01

Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented to display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR.

Successful medical management of a case of Austrian syndrome-an uncommon entity in the modern antibiotic era: a case report.

PubMed

Rahim, Muhammad Abdur; Zaman, Shahana; Haque, Hasna Fahmima; Afroze, Samira Rahat; Uddin, Khwaja Nazim

2017-09-06

Austrian syndrome-the combination of meningitis, pneumonia and infective endocarditis due to Streptococcus pneumoniae infection, is a rare entity. In literature only a few hundreds of cases are reported but surprisingly we did not find any report on Austrian syndrome in or from Bangladesh. We report the case history of a middle aged Bangladeshi diabetic man, who had fever, cough, shortness of breath and altered mentation. He had tachycardia, bi-basal lung crepitations, new cardiac murmurs and meningism. Diagnostic work-up revealed Austrian syndrome. Because of the rarity of the condition, this case is reported. A case of pneumococcal pneumonia or meningitis should raise suspicion of concomitant endocarditis and Austrian syndrome, specially if there is heart failure, as early recognition and treatment may appear life-saving.

Elephantine but not elephantiasis: Subcutaneous zygomycosis.

PubMed

Girish, Meenakshi; Arora, Amit; Bhalla, Lucky; Salodkar, Atul

2011-09-01

Subcutaneous zygomycosis is an unusual disorder caused by a rare fungus, Basidiobolus ranarum. We report this entity in a 4- yr- old boy. Biopsy showed the Splendore Hoeppli phenomenon and the culture yielded Basidiobolus ranarum. The child responded to saturated solution of potassium iodide within 1 month of starting treatment.

[Lupoid syndrome in "BCG-itis." Report of a case].

PubMed

Ramírez, O; Ramírez, R

1986-01-01

It is presented the first case of lupoid syndrome of "BCG-itis" found in El Salvador. Its clinic-pathological study is conclusive for such dermatological entity. The complications of vaccination with BCG are rare. It must be treated as an active tuberculosis, but with a greater control of the patient.

Diffuse corpus callosum infarction - Rare vascular entity with differing etiology.

PubMed

Mahale, Rohan; Mehta, Anish; Buddaraju, Kiran; John, Aju Abraham; Javali, Mahendra; Srinivasa, Rangasetty

2016-01-15

Infarctions of the corpus callosum are rare vascular events. It is relatively immune to vascular insult because of its rich vascular supply from anterior and posterior circulations of brain. Report of 3 patients with largely diffuse acute corpus callosum infarction. 3 patients with largely diffuse acute corpus callosum infarction were studied and each of these 3 patients had 3 different aetiologies. The 3 different aetiologies of largely diffuse acute corpus callosum infarction were cardioembolism, tuberculous arteritis and takayasu arteritis. Diffuse corpus callosum infarcts are rare events. This case series narrates the three different aetiologies of diffuse acute corpus callosum infarction which is a rare vascular event. Copyright © 2015 Elsevier B.V. All rights reserved.

An Unusual Consolidation: Lobar Pulmonary Hemorrhage Due to Antithrombotic Therapy.

PubMed

D'Amore, Katrina; Traficante, David; McGovern, Terrance; Propersi, Marco; Barnes, Stacey

2017-11-01

Alveolar hemorrhage is a rare yet devastating clinical entity if not identified and treated aggressively. Exceedingly rare are the cases of anticoagulant-induced alveolar hemorrhage with very few cases described in the current literature. The nonspecific presentation of an alveolar hemorrhage makes its diagnosis and appropriate treatment difficult in the emergency department. We report a case of a patient on warfarin for atrial fibrillation who was initially misdiagnosed as having community-acquired pneumonia, but subsequently was identified to have a fatal alveolar hemorrhage.

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

PubMed

Kiphuth, I C; Neuen-Jacob, E; Struffert, T; Wehner, M; Wallefeld, W; Laing, N; Schröder, R

2010-04-01

Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain. We report the clinical, myopathological and MRI findings in the first German patient suffering from a myosin storage myopathy due to a heterozygous R 1845W missense mutation.

Mondor's disease of the breast. A retrospective review.

PubMed

Salemis, Nikolaos S; Merkouris, Stamatios; Kimpouri, Konstantina

2011-01-01

Mondor's disease is a rare benign clinical entity characterized by thrombophlebitis of the superficial veins of the anterolateral thoraco-abdominal wall. Although several predisposing factors have been reported, the exact pathogenesis remains unclear. We retrospectively reviewed the medical records of all patients older than 14 years who were diagnosed with Mondor's disease of the breast at the Breast Cancer Surgery Unit of Army General Hospital over a 3-year period. Five cases of Mondor's disease were identified among 5717 breast examinations performed during the study period. In 4 patients the disease was considered to be idiopathic. Ultrasonography established the diagnosis in all patients but mammography was inconclusive in two cases due to the presence of dense breast tissue. Four patients received symptomatic treatment. All patients had complete clinical resolution within 2-8 weeks of presentation, and they are well without any evidence of recurrence for 3 to 32 months later. No cases were associated with breast cancer. Mondor's disease of the breast is a rare benign self-limiting clinical entity. Ultrasonography is the diagnostic modality of choice but mammography may be inconclusive in the presence of dense breast tissue. Awareness of this rare entity is mandatory to prevent an unnecessary biopsy whereas the patients should be reassured of the benign nature of this disorder. Thorough evaluation is however necessary to rule out an underlying breast cancer or another systemic disease.

Amyand's hernia: A case report and review of the literature.

PubMed

Shaban, Youssef; Elkbuli, Adel; McKenney, Mark; Boneva, Dessy

2018-05-07

An Amyand hernia is a rare disease where the appendix is found within an inguinal hernia sac. This rare entity is named after the French born English surgeon, Dr. Claudius Amyand. Inguinal hernias are one of the most common surgeries that a general surgeon performs with more than 20 million inguinal hernia repairs performed yearly worldwide. The incidence of finding an appendix within the hernia sac is rare, occurring in less than 1% of inguinal hernia patients and when complications arise such as inflammation, perforation, or abscess formation it becomes exceptionally rare with an incidence of about 0.1%. A 59-year-old male with a history of a previously reducible right inguinal hernia presented to the Emergency Department with acute abdominal pain, right groin mass. Computed tomography (CT) confirmed a right incarcerated inguinal hernia with herniated loops of bowel within the right inguinal region. Patient was subsequently treated with an appendectomy and tension free hernia repair with mesh with a successful outcome. The current generally accepted treatment algorithm for Amyand's hernia is essentially contingent on the appendix's condition within the hernia sac. Controversy exists regarding the application of mesh in type 2 Amyand's hernia. More research is needed to provide surgeons with evidence-based standardized approaches for dealing with this unique situation. This case report reviews a rare entity known as an Amyand's hernia that presented as an incarcerated hernia that was diagnosed intraoperatively with an inflamed appendix, recognized as a type 2 Amyand's hernia. Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Neonatal liver abscesses due to Candida infection in a preterm infant, secondary to malpositioned umbilical lines – a rare entity

PubMed Central

Sharma, Deepak; Choudhary, Mukesh; Shastri, Sweta; Sharma, Pradeep Kumar

2015-01-01

Neonatal liver abscess is an uncommon seen condition in neonatology and it holds a very high neonatal mortality because of difficulty in diagnosis and treatment. Till today, only few instances are reported that too are mainly in preterm. Its diagnosis requires a high index of suspicion. Fungal hepatic abscess is very rare and in medical literature very few case reports are there in the medical literature. Here, we report a case of Candida albicans liver abscess in a preterm neonate, secondary to malpositioned umbilical lines that presented with respiratory difficulty and other clinical features of sepsis that was managed medically and discharged successfully. PMID:25736870

Calcifying Bursitis ischioglutealis: A Case report

PubMed Central

Schuh, Alexander; Narayan, Chirag Thonse; Schuh, Ralph; Hönle, Wolfgang

2011-01-01

Introduction: The ischiogluteal bursa is an inconstant anatomical finding located between the ischial tuberosity and the gluteus maximus. Ischiogluteal bursitis is a rare disorder. Case Report: We report the case of a 43-year-old female patient with bilateral calcifying ischiogluteal bursitis. The patient had no relevant medical history of systemic illness or major trauma to the buttock. After aspiration of both ischiogluteal bursitis which delievered calcareous deposits and instillation of a mixture of 1cc betamethasone (6 mg) and 4 cc of 1% lidocaine the patient was out of any complaints. Conclusion: Calcifying ischiogluteal bursitis is a rare entity but easily diagnosed on radiographs. Aspiration and local steroid instillation give good relief from symptoms. PMID:27298836

Small bowel perforation secondary to metastatic non-small cell lung cancer. A rare entity with a dismal prognosis.

PubMed

Salemis, Nikolaos S; Nikou, Efstathios; Liatsos, Christos; Gakis, Christos; Karagkiouzis, Grigorios; Gourgiotis, Stavros

2012-09-01

The incidence of gastrointestinal metastases from lung cancer is higher than previously thought as they have been reported in 2-14% of the cases in autopsy studies. However, clinically significant metastases are rare. Small bowel perforation secondary to metastatic non-small cell lung cancer is a very rare clinical entity. The aim of this study is to describe a case of ileal perforation in a patient with intestinal metastases of a non-small cell lung cancer, along with a review of the literature. A 57-year-old male with a history of non-small cell lung cancer was referred to our emergency department with signs and symptoms of acute surgical abdomen. A computed tomography scan demonstrated dilated small bowel loops, liver deposits, and signs of perforation of an intra-abdominal hollow viscus. Emergency exploratory laparotomy revealed diffuse purulent peritonitis and a perforated ileal tumor. A segmental small bowel resection and primary anastomosis were performed. Histological and immunohistochemical findings were consistent with a metastatic non-small cell lung carcinoma. Additional evaluation revealed widespread metastatic disease. Unfortunately, despite adjuvant treatment, the patient died of progressive disease 2 months after surgery. Small bowel perforation due to metastatic non-small cell lung cancer is a very rare clinical entity. The possibility of small bowel metastases should be kept in mind in patients with lung cancer presenting with an acute abdomen. Intestinal perforation occurs in advanced stages and is usually a sign of widespread disease. Aggressive surgery can provide effective palliation and may improve short-term survival. The prognosis is however dismal.

Actinic Prurigo in Scandinavian Adolescent Successfully Treated with Cyclosporine A.

PubMed

Sitek, Jan C

2017-03-13

Actinic prurigo is a pruritic sun-induced dermatosis classified among the immunologically mediated photodermatoses. The disease is a well-known entity among Native Americans and in Central and South America, however rare in Caucasians with only a few reports from Australia, Britain and France. We report the first case of actinic prurigo in a Scandinavian patient, responding favorably to systemic treatment with cyclosporine A.

Scalp Metastasis as the First Sign of Small-Cell Lung Cancer: Management and Literature Review

PubMed Central

Salemis, Nikolaos S.; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

2014-01-01

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor. PMID:25058760

Scalp metastasis as the first sign of small-cell lung cancer: management and literature review.

PubMed

Salemis, Nikolaos S; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

2014-01-01

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor.

Isolated dorsal column dysfunction due to an intraspinal Osteolipoma - Case report and review of literature.

PubMed

Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S

2016-01-01

Osteolipoma is a rare variant of the ubiquitous lipoma. Published literature appears in the form of isolated case reports affecting soft tissue structures in the head, neck and rarely affecting the spine. We present a unique instance of an intraspinal osteolipoma in the cervical spine, without evidence of accompanying spinal dysraphism and an atypical clinical presentation of isolated dorsal column dysfunction. We describe the clinical presentation, operative procedure and post-operative outcomes with histopathological findings of this rare entity. A 61-year-old male presented with impaired dorsal column sensation due to an intraspinal extradural ossifying lesion in the cervical spinal canal. The patient underwent excision of the lesion with complete resolution of symptoms. Ossifying lesion in the spinal canal may be frequent finding on radiological imaging but presence of possible adipose tissue in the lesion should raise suspicion of rare clinical scenario of an osteolipoma.

Neuroendocrine carcinoma of the larynx with metastasis to the eyelid.

PubMed

Assi, Hussein A; Patel, Raina; Mehdi, Syed

2015-10-01

Neuroendocrine tumors are a rare type of neoplasms that comprise only 0.5% of all malignancies.¹ They usually arise from the gastrointestinal tract and the lung.¹,² Neuroendocrine carcinoma of the head and neck is a relatively rare malignancy described in the literature. The larynx is the most commonly affected region of the head and neck.³,⁴ Nevertheless, small-cell carcinoma comprises only 0.5% of all laryngeal cancers.⁵ Neuroendocrine carcinoma of the larynx carries variable prognosis depending on the histological subtype.⁶ Typical carcinoid rarely metastasizes, but atypical carcinoid and small-cell carcinoma have high rates of metastasis, usually in the lung and liver.² Cutaneous metastasis from neuroendocrine carcinoma is an extremely rare entity, with only few cases reported in the English literature.⁷,⁸ We report the case of an elderly man with recurrent laryngeal neuroendocrine carcinoma with metastasis to the eyelid. ©2015 Frontline Medical Communications.

Typhoid ulcer causing life-threatening bleeding from Dieulafoy's lesion of the ileum in a seven-year-old child: a case report

PubMed Central

2010-01-01

Introduction We describe a case of rare complication of typhoid fever in a seven-year-old child and review the literature with regard to other rare causes of bleeding per rectum. Dieulafoy's lesion is an uncommon but important cause of recurrent gastrointestinal bleeding. Dieulafoy's lesion located extragastrically is rare. We report a case of typhoid ulcer with Dieulafoy's lesion of the ileum causing severe life-threatening bleeding and discuss the management of this extremely uncommon entity. Case presentation As a complication of typhoid fever, a seven-year-old Kurdish girl from Northern Iraq developed massive fresh bleeding per rectum. During colonoscopy and laparotomy, she was discovered to have multiple bleeding ulcers within the Dieulafoy's lesion in the terminal ileum and ileocecal region. Conclusion Although there is no practical way of predicting the occurrence of such rare complications, we emphasize in this case report the wide array of pathologies that can result from typhoid fever. PMID:20525295

Typhoid ulcer causing life-threatening bleeding from Dieulafoy's lesion of the ileum in a seven-year-old child: a case report.

PubMed

Ezzat, Rajan Fuad; Hussein, Hiwa A; Baban, Trifa Shawkat; Rashid, Abbas Tahir; Abdullah, Khaled Musttafa

2010-06-03

We describe a case of rare complication of typhoid fever in a seven-year-old child and review the literature with regard to other rare causes of bleeding per rectum. Dieulafoy's lesion is an uncommon but important cause of recurrent gastrointestinal bleeding. Dieulafoy's lesion located extragastrically is rare. We report a case of typhoid ulcer with Dieulafoy's lesion of the ileum causing severe life-threatening bleeding and discuss the management of this extremely uncommon entity. As a complication of typhoid fever, a seven-year-old Kurdish girl from Northern Iraq developed massive fresh bleeding per rectum. During colonoscopy and laparotomy, she was discovered to have multiple bleeding ulcers within the Dieulafoy's lesion in the terminal ileum and ileocecal region. Although there is no practical way of predicting the occurrence of such rare complications, we emphasize in this case report the wide array of pathologies that can result from typhoid fever.

Lingual Thyroid Carcinoma: A Case Report and Review of Surgical Approaches in the Literature.

PubMed

Stokes, William; Interval, Eric; Patel, Rusha

2018-07-01

Lingual thyroid cancer is a rare entity with a paucity of literature guiding methods of surgical treatment. Its location presents anatomic challenges with access and excision. We present a case of T4aN1b classical variant papillary thyroid carcinoma of the lingual thyroid that was removed without pharyngeal entry. We also present a review of the literature of this rare entity and propose a treatment algorithm to provide safe and oncologic outcomes. Our review of the literature found 28 case reports of lingual thyroid carcinoma that met search criteria. The trans-cervical/trans-hyoid approach was the most frequently used and provides safe oncologic outcomes. This was followed by the transoral approach and then lateral pharyngotomy. Complications reported across the series include 1 case of pharyngocutaneous fistula associated with mandibulotomy and postoperative respiratory distress requiring reintubation or emergent tracheostomy in 2 patients. The location of lingual thyroid carcinoma can be variable, and surgical management requires knowledge of adjacent involved structures to decrease the risk of dysphagia and airway compromise. In particular, for cases where there is extensive loss to swallowing mechanisms, laryngeal suspension can allow the patient to resume a normal diet after treatment.

Isolated tuberculous liver abscess in an immunocompetent adult patient: A case report and literature review.

PubMed

Chen, Tsung-Chia; Chou, Ling-Tai; Huang, Chen-Cheng; Lai, An-Bang; Wang, Jen-Hsien

2016-06-01

Tuberculous liver abscess is a rare disease entity even in endemic areas of Mycobacterium tuberculosis. It is usually accompanied by pulmonary tuberculosis or enteric tuberculosis. Further, an isolated tuberculous liver abscess is extremely rare. The disease is diagnosed by laparotomy or postmortem autopsy in most cases, and some authors adopted a 9-month antituberculosis regimen. We herein report a case of an isolated tuberculous liver abscess that initially manifested as persistent fever and general malaise, which was diagnosed by liver biopsy and treated successfully with a 6-month antituberculosis regimen and percutaneous abscess drainage. Copyright © 2013. Published by Elsevier B.V.

Concomitant Epstein-Barr Virus-associated smooth muscle tumor and granulomatous inflammation of the liver.

PubMed

Can, Nhu Thuy; Grenert, James P; Vohra, Poonam

2017-10-01

Epstein-Barr Virus-associated smooth muscle tumor (EBV-SMT) is a rare mesenchymal tumor typically seen in immunocompromised patients. Here, we report a case of EBV-SMT and associated granulomatous inflammation in the liver of a 32-year-old man with history of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). To our knowledge, an association of these two lesions has not been previously reported. We review the literature and discuss pathogenesis, differential diagnosis and immunohistochemical (IHC) stains helpful for the diagnosis of this rare entity. Finally, we consider possible explanations for the concomitant presence of these lesions. Published by Elsevier GmbH.

Pigmented epidermal cyst with dense collection of melanin: A rare entity – Report of a case with review of the literature

PubMed Central

Jayalakshmy, P. S.; Subitha, K.; Priya, P. V.; Johnson, Gerald

2012-01-01

Epidermal cyst is a very common benign cystic lesion of the skin. It is usual to find ulceration of the lining epithelium, rupture of the cyst wall with chronic inflammation and foreign body giant cell reaction. But, it is very rare to see an epidermal cyst with marked accumulation of melanin pigment. Only a few cases of pigmented epidermal cyst with dense collection of melanin pigment have been published in the literature. Here, we are reporting a case of ruptured epidermal cyst with keratin granuloma formation and showing dense collection of melanin pigment. PMID:23130289

Obstructive Hydrocephalus Secondary to Enlarged Virchow-Robin Spaces: A Rare Cause of Pulsatile Tinnitus.

PubMed

Donaldson, Christopher; Chatha, Gurkirat; Chandra, Ronil V; Goldschlager, Tony

2017-05-01

Obstructive hydrocephalus secondary to enlarged Virchow-Robin Spaces (VRS) is a rare entity, with only a few cases reported in the literature. Presenting symptoms vary widely from headaches to dizziness. We report a case of a 31-year-old man who presented with pulsatile tinnitus and magnetic resonance imaging showing obstructive hydrocephalus secondary to tumefactive VRS. After a cerebrospinal fluid diversion procedure in the form of an endoscopic third ventriculostomy, he had almost complete resolution of his symptoms. This is the first case of obstructive hydrocephalus secondary to enlarged VRS, presenting with pulsatile tinnitus. Copyright © 2017 Elsevier Inc. All rights reserved.

Brown tumors of the anterior skull base as the initial manifestation of true normocalcemic primary hyperparathyroidism: report of three cases and review of the literature.

PubMed

Khalatbari, Mahmoud Reza; Hamidi, Mehrdokht; Moharamzad, Yashar; Setayesh, Ali; Amirjamshidi, Abbas

2013-01-01

Brown tumor is a bone lesion secondary to hyperparathyroidism of various etiologies. Skeletal involvement in primary hyperparathyroidism secondary to parathyroid adenoma is very uncommon and brown tumor has become extremely a rare clinical entity. Hyperparathyroidism is usually associated with high levels of serum calcium. Brown tumor as the only and initial symptom of normocalcemic primary hyperparathyroidism is extremely rare. Moreover, involvement of the skull base and the orbit is exceedingly rare. The authors would report three cases of brown tumor of the anterior skull base that were associated with true normocalcemic primary hyperparathyroidism. Clinical manifestations, neuroimaging findings, pathological findings, diagnosis and treatment of the patients are discussed and the relevant literature is reviewed.

A Rare Case Report of Immobility-Induced Hypercalcemia in an Infant.

PubMed

Vyas, Neha; Kaminski, Beth; MacLeish, Sarah

2016-04-01

Immobility-induced hypercalcemia is a rare cause of hypercalcemia in children, and to our knowledge it has never been reported in an infant. Infants and children are in a state of high bone turnover. Therefore, they are prone to the imbalance of osteoblastic and osteoclastic activity that occurs with prolonged immobilization, leading to hypercalcemia. Here we present the case of an infant with hypercalcemia who presented with fatigue, irritability, and failure to thrive after prolonged immobilization. Therapeutic interventions were conservative and included hydration and increased mobility leading to complete resolution. This case highlights the importance of including this rare entity in a differential diagnosis of hypercalcemia as well as screening postsurgical patients with prolonged immobility for hypercalcemia. Copyright © 2016 by the American Academy of Pediatrics.

Extranasopharyngeal angiofibroma of the posterior nasal septum: a rare clinical entity.

PubMed

Atmaca, Sinan; Bayraktar, Cem; Yıldız, Levent

2013-01-01

Angiofibroma of extranasopharyngeal origin is very rare. Although it is usually originated from any mucosal structure in the head and neck region, maxilla is the most common involvement site. The nasal septum is an exceptional anatomic site of an angiofibroma. Surgery is the best treatment modality and recurrence is very rare. Nasal septal angiofibromas must be considered in the differential diagnosis of nasal vascular masses arising from the nasal septum. In this article, we report a 37-year-old male case with nasal septal angiofibroma who underwent surgical resection of the tumor. This is the 16th case in the literature.

Neurosurgical rare disease: solitary plasmacytoma of the skull - case report and literature review.

PubMed

Rizea, Radu Eugen; Popescu, Mihai; Gheorghiţă, Karina Lidia; Popescu, George; Neamţu, Marius Cristian; Busuioc, Cristina Jana; Ciurea, Alexandru Vlad

2018-01-01

Solitary extranevraxial plasmacytoma (SEP), as a clinical entity without signs of systemic myelomatosis, is extremely rare; it is difficult to find literature on the issue of patient management and proper course of action in the presence of associated pathology. The authors present a rare case of plasmacytoma of the skull vault associated with severe cardiac pathology, which made surgery extremely difficult and possible only through temporization of the interventions, as presented. We discuss our findings and opportunities for treatment in this case, which seemed unapproachable at presentation, in connection with the associated cardiac pathology. The case was followed-up for eight years with no recurrences.

Tuberculous peritonitis: CT appearance

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hanson, R.D.; Hunter, T.B.

1985-05-01

Rare, sporadic cases of tuberculous peritonitis do occur in the United States and other advanced countries. Because there are few descriptions of the CT appearance of the peritoneal forms of tuberculous (TB), this report illustrates a case of tuberculous peritonitis with prominent CT findings and discusses the differentiation of this entity from other, more common diseases.

Fibrosarcoma of nose and paranasal sinuses.

PubMed

Agarwal, M K; Gupta, S; Gupta, O P; Samant, H C

1980-01-01

Involvement of nose and maxilla by fibrosarcoma is extremely rare. Only a few cases of fibrosarcoma arising in this region are reported in the world literature. Two cases of fibrosarcoma are described, and the literature relating to this disease entity is briefly reviewed. Salient features helping in the diagnosis and management of fibrosarcoma also are highlighted.

[Carcinosarcoma of the breast a rare entity with fatal prognosis. One case report].

PubMed

Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Alonso-Briones, Marco Vinicio; Trujillo-de Anda, Ana Patricia

2013-01-01

breast metaplastic carcinomas are a heterogeneous group of neoplasms that exhibit a poor prognosis compared with invasive ductal carcinoma. Correspond less than 1% of all malignant neoplasms of the mammary gland. They usually present as high-grade tumors with a lower rate of lymph node metastases and decreased expression of estrogen and progesterone receptors and Her2 and increased expression of Her1 and Ki-67. we report a 52 year old woman with a breast carcinosarcoma presented with a left breast tumor fungated, ulcerated, polypoid and 18 cm in major diameter with lymph node metastases at diagnosis. She received multimodal management with neoadjuvant chemotherapy, followed by mastectomy and adjuvant chemotherapy; she presented progression of the disease with lung metastases and local massive recurrence, eventually died from complications associated to the disease. metaplastic carcinomas of the breast are extremely rare entities. Due the nature of disease and presentation, the prognosis is poor in these patients. There are several histologic subtypes based on studies of hematoxylin and eosin and immunohistochemical stains. It requires multimodal therapy (surgery, radiotherapy and chemotherapy) for best results.

Case report : tuberculosis liver abscess in male alcoholism patient

NASA Astrophysics Data System (ADS)

Siahaan, W. P.; Ginting, F.

2018-03-01

A liver abscess often occurs in low-middle income countries such as Indonesia. Two most common liver abscesses are amoebic and pyogenic liver abscess. Data that reported tuberculosis liver abscess (TLA) is extremely rare. A diagnostic criterion for tuberculosis liver abscess is rare and remains unclear. A 52-year-old man developed a TLA which was not associated with any pulmonary or gastrointestinal tract foci of tuberculosis. An ultrasonogram and abdominal scan showed an abscess in the right lobe. We performed paracentesis, and the pus from the lesion was positive tubercular bacilli on acid-fast bacilli staining. The patient was started on systemic antitubercular therapy to which he responded favorably. This report emphasizes the fact that, although a TLA is a very rare entity, it should be included in the differential diagnosis of liver abscess especially in Indonesia where the prevalence of tuberculosis is extremely high.

Rare cancers in children - The EXPeRT Initiative: a report from the European Cooperative Study Group on Pediatric Rare Tumors.

PubMed

Bisogno, G; Ferrari, A; Bien, E; Brecht, I B; Brennan, B; Cecchetto, G; Godzinski, J; Orbach, D; Reguerre, Y; Stachowicz-Stencel, T; Schneider, D T

2012-10-01

The low incidence and the heterogeneity of very rare tumors (VRTs) demand for international cooperation. In 2008, EXPeRT (European Cooperative Study Group for Pediatric Rare Tumors) was founded by national groups from Italy, France, United Kingdom, Poland and Germany. The first aims of EXPeRT were to agree on a uniform definition of VRTs and to develop the currently most relevant scientific questions. Current initiatives include international data exchange, retrospective and prospective studies of specific entities, and the development of harmonized and internationally recognized guidelines. Moreover, EXPeRT established a network for expert consultation to assist in clinical decision in VRTs. © Georg Thieme Verlag KG Stuttgart · New York.

A comprehensive review on Primary gallbladder tuberculosis.

PubMed

Gupta, Ashish; Gupta, Amit; Anjum, Rohik; Agrawal, Saumya; Mallik, Dhiraj

2018-04-30

Tuberculosis (TB) is an infectious disease that can affect any organ system of the body. Abdominal TB can be gastrointestinal, lymph nodal, visceral or peritoneal. The gallbladder (GB) is rarely involved in abdominal TB as a primary organ. Extensive research literature on gallbladder TB is limited to case reports. There has been no review on this rare abdominal pathology. GB tuberculosis is a difficult diagnosis preoperatively. It is a rare differential among the more common gallbladder pathologies such as cholelithiasis, or a gallbladder malignancy. Typical histopathology of the resected specimen helps to establish this rare diagnosis. Subjecting every specimen to histopathological examination followed by medical treatment offers the chance of cure. Through this review, the authors attempt to provide an insight into this disease entity.

Leiomyoadenomatoid tumor of the uterus: report of a rare entity and review of the literature.

PubMed

Sarma, Nandyala Hariharanadha; Srinivasulu, Madapuram; Suchitra, Mekala Jyothi

2014-01-01

Adenomatoid tumor occurs in the testicular spermatic cord and ejaculatory duct in males and in the fallopian tube and uterus in the females. These are usually small, benign lesions and are mostly incidental findings. Leiomyo-adenomatoid tumor (LMAT) is a variant of adenomatoid tumor, where in the smooth muscle component is predominant. Only nine cases of LMAT are reported so far in the English literature. We report one case and review the nine cases reported so far.

Pilonidal abscess in the breast: a case report

PubMed Central

Lahiri, Rashmi; Mullen, Russell; Ashton, Mark A.; Abbott, Nick C.; Pollock, Anne Marie

2014-01-01

Pilonidal sinus is a common entity, most often occurring in the natal cleft. Pilonidal sinus with abscess formation has also been described in hairdressers in the interdigital space. We report a case of pilonidal abscess of the breast in a hairdresser, a rarely reported site, which requires awareness on the clinician's part of this occupational risk, for appropriate management and post-surgery advice on prevention. It is particularly important to impart such information to the reporting pathologist who is key to making this histological diagnosis. PMID:24950682

Actinic Prurigo in Scandinavian Adolescent Successfully Treated with Cyclosporine A

PubMed Central

Sitek, Jan C.

2017-01-01

Actinic prurigo is a pruritic sun-induced dermatosis classified among the immunologically mediated photodermatoses. The disease is a well-known entity among Native Americans and in Central and South America, however rare in Caucasians with only a few reports from Australia, Britain and France. We report the first case of actinic prurigo in a Scandinavian patient, responding favorably to systemic treatment with cyclosporine A. PMID:29142659

Rhinocerebral Mucormycosis Among Diabetic Patients: An Emerging Trend.

PubMed

Reddy, Sujatha S; Rakesh, N; Chauhan, Pallavi; Sharma, Shivani

2015-12-01

Mucormycosis is an acute necrotic fungal infection with a fulminant course. Earlier considered a rare entity, mucormycosis is being reported with increasing frequency in recent years, possibly due to the increase in immunocompromised population especially diabetic patients. We report three cases of rhinocerebral mucormycosis among poorly controlled diabetic patients. This article emphasizes the need for further awareness of this disease, early diagnosis, and treatment to counter this opportunistic infection.

Idiopathic thoracic transdural intravertebral spinal cord herniation

PubMed Central

Turel, Mazda K; Wewel, Joshua T; Kerolus, Mena G; O'Toole, John E

2017-01-01

Idiopathic spinal cord herniation is a rare and often missed cause of thoracic myelopathy. The clinical presentation and radiological appearance is inconsistent and commonly confused with a dorsal arachnoid cyst and often is a misdiagnosed entity. While ventral spinal cord herniation through a dural defect has been previously described, intravertebral herniation is a distinct entity and extremely rare. We present the case of a 70-year old man with idiopathic thoracic transdural intravertebral spinal cord herniation and discuss the clinico-radiological presentation, pathophysiology and operative management along with a review the literature of this unusual entity. PMID:29021685

Salivary duct cyst on lower lip: A rare entity and literature review

PubMed Central

Tandon, Ankita; Sircar, Keya; Chowdhry, Aman; Bablani, Deepika

2014-01-01

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Salivary duct cyst, however, is a type of mucous retention cyst which is almost never located on the lower lip. The aim of this paper is to report this extremely rare salivary duct cyst present on the lower lip and to critically review the literature to build important concepts that would help clinicians in the diagnosis and treatment of this pathology. PMID:25364168

Salivary duct cyst on lower lip: A rare entity and literature review.

PubMed

Tandon, Ankita; Sircar, Keya; Chowdhry, Aman; Bablani, Deepika

2014-09-01

Mucocele forms because of salivary gland mucous extravasation or retention and is usually related to trauma in the area of the lower lips. Salivary duct cyst, however, is a type of mucous retention cyst which is almost never located on the lower lip. The aim of this paper is to report this extremely rare salivary duct cyst present on the lower lip and to critically review the literature to build important concepts that would help clinicians in the diagnosis and treatment of this pathology.

Extraventricular neurocytoma in a child mimicking oligodendroglioma: a diagnostic pitfall.

PubMed

Limaiem, F; Bellil, S; Chelly, I; Mekni, A; Bellil, K; Jemel, H; Haouet, S; Zitouna, M; Kchir, N

2009-04-01

Extraventricular neurocytomas are rare neuronal tumours that have been included in the 2007 WHO classification as a variant of central neurocytoma. They arise outside the ventricles, usually within the cerebral hemisphere,s but also in other regions throughout the neuraxis. The morphological overlap of these tumours with oligodendroglioma often poses diagnostic difficulty. Herein, a case of extraventricular neurocytoma in a 4-year-old girl is reported that mimicked histologically oligodendroglioma. The authors describe the clinicopathological features of this rare entity with special emphasis on differential diagnosis.

A rare case report of squamous-cell carcinoma arising from mature cystic teratoma of ovary.

PubMed

Kalampokas, E; Boutas, I; Kairi-Vasilatou, E; Salakos, N; Panoulis, K; Aravantinos, L; Damaskos, C; Kalampokas, T; Deligeoroglou, E

2014-01-01

The most frequent ovarian germ cell tumors are mature cystic teratomas (MCTs), composing 10-25% of all ovarian neoplasms. MCTs have the potential of undergoing malignant transformation, typically in postmenopausal women, with a frequency of 0.17-3%, with squamous cell carcinoma being the most common malignant tumor arising from MCT. We present the rare clinical entity of a squamous cell carcinoma arising from a mature cystic teratoma in a 56-year-old premenopausal woman as well as diagnostic and therapeutic route followed.

[Pneumomediastinum, giant subcutaneous emphysema and pneumoperitoneum revealed by jaw pain. Uncommon physiopathology of pneumomediastinum].

PubMed

Le Loch, J-B; Freymond, N; Khettab, F; Pacheco, Y; Devouassoux, G

2008-02-01

Spontaneous pneumomediastinum is a rare entity, predominantly described in young man. The association of acute dyspnea, chest pains and subcutaneous emphysema is usually reported. We report the observation of a pneumomediastinum, fortuitously discovered in front of an isolated giant subcutaneous emphysema in a 59 year old man. The recent clinical history was only marked by the presence of intense and acute dental pains. Associated with a pneumoperitoneum, a retro-pneumoperitoneum, this clinical presentation is uncommon and differs from previous published case reports. Despite a complete evaluation of classical risk factors, its origin remains uncertain. However, the presence of huge dental injuries led to consider such local origin, facilitating air diffusion. This case report allows to reconsider spontaneous pneumomediastinum entity and to propose additional physiopathological mechanisms. This original description underlines the interest to systematically perform dental examination in the presence of unexplained pneumomediastinum.

Osteoblastoma of body of the talus--Report of a rare case with atypical radiological features.

PubMed

Mir, Naseer Ahmed; Baba, Asif Nazir; Maajid, Saheel; Badoo, Abdul Rashid; Mir, Ghulam Rasool

2010-06-01

Osteoblastoma is a benign bone tumour found commonly in the spine and long tubular bones. Involvement of the talus is uncommon, and when present, is found in the neck of the talus. Osteoblastoma of the body of talus is a very rare entity. We report a young male, presenting as chronic ankle pain, with a radiolucent lesion with a thick periosteal shell in the body of the talus. Analysis of clinical, radiological and histological findings confirmed the diagnosis of osteoblastoma. The case is reported for the rarity of the site and atypical radiological features that osteoblastoma can present with. Copyright 2009 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

Immunohistochemical mismatch in a case of rhabdomyoblastic metastatic melanoma.

PubMed

Dumitru, Adrian Vasile; Tampa, Mircea Ştefan; Georgescu, Simona Roxana; Păunică, Stana; Matei, Clara Nicoleta; Nica, Adriana Elena; Costache, Mariana; Motofei, Ion; Sajin, Maria; Păunică, Ioana; Georgescu, Tiberiu Augustin

2018-01-01

Melanomas can exhibit a wide range of unusual morphologies due to the neural crest origin of melanocytes. Several authors have documented variations in size and shape of cells, cytoplasmic features and inclusions, nuclear features and cell architecture. Metastatic melanoma with rhabdomyoblastic differentiation is an extremely rare condition with poor prognosis. Few studies concerning rhabdoid or rhabdomyoblastic differentiation in melanoma are currently available and the current report highlights some of the most important immunohistochemical features of this rare entity. We report on a case of a rhabdomyoblastic metastatic melanoma showing intense positivity for both melanocytic and rhabdoid markers in two cell populations dissociated within the tumor with multiple mismatches in immunomarker expression. Improved recognition of this rare morphological pattern may provide the means for developing new techniques to identify novel therapeutic targets, which would improve the prognostic outlook for these patients.

Giant cell angiofibroma of the scalp: A benign rare neoplasm with bone destruction

PubMed Central

Arifin, Muhammad Z.; Tjahjono, Firman P.; Faried, Ahmad; Gill, Arwinder S.; Cahyadi, Alexander; Hernowo, Bethy S.

2013-01-01

Background: The incidence of extraorbital giant cell angiofibroma (GCA) is rare, with only one case located in the scalp reported in the literature. The morphological hallmark is histopathological examination showing richly vascularized pattern-less spindle cell proliferation containing pseudovascular spaces and floret-like multinucleate giant cells. Case Description: We report a case of a 30-year-old female with a primary complaint of a painless solitary nodule arising on the left parietal region of the scalp. Complete tumor removal through surgical intervention was achieved, and the postoperative period was uneventful. Conclusion: Diagnosing a highly vascularized tumor in the head and neck is challenging. Our case is unique in that it is presented as a GCA of the scalp, which is an extremely rare clinical entity, and also demonstrated bone destruction. PMID:24231802

Complete duplication of bladder and urethra in a sagittal plane in a male infant: case report and literature review.

PubMed

Coker, Alisa M; Allshouse, Michael J; Koyle, Martin A

2008-08-01

Complete duplication of the bladder and urethra is a rare entity. It may occur in the coronal and sagittal planes, and is often associated with other organ system anomalies, in particular of the gastrointestinal tract. We report an unusual variant of sagittal duplication of the bladder, in a male, associated with rudimentary hindgut duplication, and review the literature pertaining to this unusual anomaly.

[Primary cardiac lymphoma: a case report].

PubMed

Parato, Vito Maurizio; Muscente, Francesca; Scarano, Michele

2017-01-01

Primary cardiac lymphomas are rare entities (1.3% of all primary cardiac tumors) of difficult clinical identification. We report a case of a primitive cardiac lymphoma in a 35-year-old immunocompetent patient, presenting with signs and symptoms of cardiac tamponade. Echocardiography revealed a lateral atrioventricular mass associated with large pericardial effusion. After pericardiocentesis, surgical excision was performed. Chemotherapy regimens were administered according to established protocols and were effective in inducing complete remission at 6 months.

Psoriasiform keratosis - case report.

PubMed

Pires, Carla Andréa Avelar; Sousa, Brena Andrade de; Nascimento, Carla do Socorro Silva do; Moutinho, Ana Thais Machado; Miranda, Mario Fernando Ribeiro de; Carneiro, Francisca Regina Oliveira

2014-01-01

Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis.

Recurrent phyllodes tumor in the male breast in a background of gynaecomastia.

PubMed

Chougule, Abhijit; Bal, Amanjit; Rastogi, Pulkit; Das, Ashim

2015-01-01

Phyllodes tumor of the male breast is an extremely rare entity with only a few reports available in the literature. Though exact etiology for development of phyllodes tumor in the male breast is unknown, hormonal imbalance with excess of estrogen action relative to androgen appears to have significant association. This report describes recurrence of phyllodes tumor with malignant features developing in the background of gynaecomastia in a male breast.

Carotid body tumor imitator: An interesting case of Castleman's disease.

PubMed

Shakir, Hakeem J; Diletti, Sara M; Hart, Alexandra M; Meyers, Joshua E; Dumont, Travis M; Siddiqui, Adnan H

2015-01-01

There are very few reports in the literature of Castleman's disease affecting the carotid artery and a single previous report of a case of Castleman's disease of the neck originally mistaken as a carotid body tumor. We describe a rare case of Castleman's disease, manifesting with classic radiographic hallmarks of a carotid body tumor. The postoperative pathologic examination identified the resected mass as Castleman's lymphadenopathy. The management of this particular case is discussed, and the findings are highlighted. We present a unique case of a tumor initially and incorrectly diagnosed as a carotid body tumor. However, after comprehensive treatment with endovascular and surgical modalities and subsequent pathologic examination, the diagnosis of this rare entity was made.

Concurrent Acute Retinal Necrosis in a Patient With Iridocorneal Endothelial Syndrome.

PubMed

Vignesh, A P; Srinivasan, Renuka

2016-11-01

To report a rare case of concurrent acute retinal necrosis in a patient with iridocorneal endothelial syndrome (ICE). Case report. A 42-year-old woman showed acute diminution of vision in the right eye. Her fundus examination revealed features of acute retinal necrosis. She had also experienced gradual diminution of vision in her left eye for 5 years. The examination of her left eye revealed corneal edema with mild corectopia and increased intraocular pressure with abnormal endothelium on specular microscopy pointing to a diagnosis of ICE. This is a rare case where concurrent acute retinal necrosis and ICE syndrome are present in the same patient, possibly pointing to a common viral etiology causing both entities.

CD5+ true SLL/CLL with plasmacytic differentiation and an unusual 1p36 translocation: case report and review of the literature.

PubMed

Evans, H L; Polski, J M; Deshpande, V; Dunphy, C H

2000-11-01

Lymphoplasmacytic lymphoma (LPL) and small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL)are distinct clinicopathologic entities. Although some cases of SLL/CLL may show plasmacytic differentiation and be associated with monoclonal immunoglobulin in serum, such cases appear to be very rare, and if plasma cell differentiation were marked, differentiation of SLL/CLL from LPL could be difficult. We report a rare case of true CD5-positive small lymphocytic lymphoma/chronic lymphocytic leukemia with unequivocal plasmacytic differentiation. This case also showed an abnormality of chromosome 1p36 not previously described in small lymphocytic lymphoma/chronic lymphocytic leukemia.

Bilateral Ossified Chronic Subdural Hematoma Presenting as Diabetes Insipidus-Case Report and Literature Review.

PubMed

Siddiqui, Saquib A; Singh, Pankaj Kumar; Sawarkar, Dattaraj; Singh, Manmohanjit; Sharma, Bhawani S

2017-02-01

Calcified chronic subdural hematomas are an occurrence rarely seen in neurosurgical clinical practice. And when they occur bilaterally, the radiologic image they present is fascinating, as is the clinical presentation, but their management may be challenging. They have been reported to present with a multitude of neurologic deficits but never with diabetes insipidus, which is described here. Due to the rarity of this pathology, the management protocol is not well defined, though there have been quite a few papers on this condition. This review article gathers information published over the years on this rare entity to suggest a treatment protocol. Copyright © 2016 Elsevier Inc. All rights reserved.

Concomitant morphea and lichen sclerosus et atrophicus in the same plaque at the site of intramuscular drug injection: an interesting case presentation.

PubMed

Arif, Tasleem; Adil, Mohammad; Amin, Syed Suhail; Mahtab, Alam

2018-06-01

Morphea and lichen sclerosus et atrophicus (LSA) are two diseases that show considerable clinical and histopathological similarity and have been known to coexist in the same patient. Whether the two conditions are different entities or part of the same spectrum has been a topic of debate. This article describes a very rare and interesting case of concomitant morphea and LSA in a 50-year-old female in the same plaque following intramuscular drug injection in the deltoid region of the right arm. The coexistence of morphea and LSA in the same lesion has rarely been reported, thus compelling us to report this case.

A Patient Presenting with Cardiac Tamponade and the Challenges of Finding Its Cause: A Cardiac Angiosarcoma.

PubMed

Habibi, Roshanak; Faramarzi, Negar; Altamirano, Alvaro J; Dadkhah, Shahriar

2018-01-01

Primary malignancies of the heart are so rare that most of the available data come from case reports or large single-center-based studies, with the overall incidence of 0.02% in the United States. Diagnosis in case of an isolated pericardial effusion as presentation is challenging, and determining that an angiosarcoma is even more challenging. Here, we presented a rare case of pericardial angiosarcoma which presented to us with tamponade. The patient eventually was diagnosed through pericardiectomy. A multimodality approach was attempted to treat the cancer. The clinical details of such a unique disease entity inspired us to present it as a case report.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kamran, Mudassar, E-mail: kamranm@mir.wustl.edu; Fowler, Kathryn J., E-mail: fowlerk@mir.wustl.edu; Mellnick, Vincent M., E-mail: mellnickv@mir.wustl.edu

Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented tomore » display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR.« less

Rare cancers in The Netherlands: a population-based study.

PubMed

van der Zwan, Jan M; van Dijk, Boukje A C; Visser, Otto; van Krieken, Han J H J M; Capocaccia, Riccardo; Siesling, Sabine

2018-07-01

The conventional definition for rare disease is based on prevalence. Because of differences in prognosis, a definition on the basis of incidence was deemed to be more appropriate for rare cancers. Within the European RARECARE project, a definition was introduced that defines cancers as rare when the crude incidence rate is less than six per 100 000 per year. In this study, we applied the RARECARE definition for rare cancer to the Netherlands; this to identify the usefulness of the definition in a single country and to provide more insight into the burden of rare cancers in the Netherlands. Data for 2004 through 2008 were extracted from the Netherlands Cancer Registry and classified according to the RARECARE entities (tumour groupings). Crude and European standardized incidence rates were calculated. Out of the 260 entities, 223 (86%) were rare according to the definition, accounting for 14 000 cancers (17% of all). Considerable fluctuations in crude rates over years were observed for the major group of cancers. Rare tumours in the Netherlands constituted 17% of all newly diagnosed tumours, but were divided over 223 different entities, indicating the challenge that faces clinicians. To make the definition of rare cancers better applicable, it should be refined by taking into consideration the sex-specific incidence for sex-specific cancer sites. Moreover, a mean incidence over 5 years will provide more solid insight into the burden, eliminating large fluctuations in time of most of the cancers.

Soft tissue fibrosarcoma of pre maxillary region in an adult: report of a unique pathological entity

PubMed Central

Naik, Smitha K.; Astekar, Madhusudhan; Rao, Dinesh

2012-01-01

Fibrosarcoma of the oral and maxillofacial region is a rare entity with poor prognosis. Most common sites are the extremities, with only one percent of fibrosarcoma arising in the head and neck area. Oral fibrosarcoma are locally infiltrative and destructive, spreads by haematogenous dissemination. The positive immunostaining for vimentin, together with negativity for muscular immunomarkers help to diagnosis the fibrosarcoma. Surgical management of fibrosarcoma in maxillofacial region is far from satisfactory, because of lack of inadequate clearance. This paper describes an unusual case of soft tissue fibrosarcoma of premaxillary region in an adult aged 71 years. PMID:24765457

Spindle Cell Carcinoma of Nasal Cavity- A Case Report

PubMed Central

Mittal, Abhishek; Nagpal, Tapan

2016-01-01

Spindle Cell Carcinoma (SpCC), also known as Sarcomatoid Carcinoma, is a rare and peculiar biphasic malignant neoplasm that occurs mainly in the upper aero-digestive tract, mostly in larynx. SCC accounts for 3% of all squamous cell carcinomas (SCCs) in the head and neck region. It is a rare variant of SCC which shows spindled or pleomorphic tumour cells simulating a true sarcoma. We present a case report of SpCC nasal cavity in a 50-year-old female patient, presented with intermittent epistaxis from left nasal cavity. On physical examination, the patient had an ulcero-exophytic type of mass in the left nasal cavity and a smooth bulge on the left side of anterior hard palate. Patient underwent excision of nasal mass along with partial palatectomy by facial degloving approach and reconstruction of palate with naso-labial flap. The postoperative histopathological report showed SCC. Surgery forms the mainstay of treatment. Radiotherapy and Chemotherapy is warranted in order to improve treatment results. As only few cases have been reported, we report a case of this rare entity to contribute for better understanding and awareness of this rare malignancy. PMID:27190843

Giant hydronephrosis in a case of ureterocele with duplex system: an entity yet not reported.

PubMed

Aeron, Ruchir; Sokhal, Ashok Kumar; Kumar, Manoj; Sankhwar, Satyanarayan

2017-08-10

Ureterocele, which is a cystic dilatation of the terminal ureter, is usually associated with the upper moiety in a case of the duplex system. Giant hydronephrosis, a rare entity, is usually due to pelviureteric junction obstruction and is usually diagnosed in infants and children. We report a unique case of a unilateral complete duplex system with ureterocele with giant hydronephrosis of the upper moiety in an adult woman presenting as an abdominal lump. To the best of our knowledge, this is the first case of giant hydronephrosis associated with ureterocele in an adult patient. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

[Partial facial duplication (a rare diprosopus): Case report and review of the literature].

PubMed

Es-Seddiki, A; Rkain, M; Ayyad, A; Nkhili, H; Amrani, R; Benajiba, N

2015-12-01

Diprosopus, or partial facial duplication, is a very rare congenital abnormality. It is a rare form of conjoined twins. Partial facial duplication may be symmetric or not and may involve the nose, the maxilla, the mandible, the palate, the tongue and the mouth. A male newborn springing from inbred parents was admitted at his first day of life for facial deformity. He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the midline by a third deformed hole), two mouths and a duplicated maxilla. Laboratory tests were normal. The cranio-facial CT confirmed the maxillary duplication. This type of cranio-facial duplication is a rare entity with about 35 reported cases in the literature. Our patient was similar to a rare case of living diprosopus reported by Stiehm in 1972. Diprosopus is often associated with abnormalities of the gastrointestinal tract, the central nervous system, the cardiovascular and respiratory systems and with a high incidence of cleft lip and palate. Surgical treatment consists in the resection of the duplicated components. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Spinal cord herniation following cervical meningioma excision: a rare clinical entity and review of literature.

PubMed

Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S

2016-05-01

Spinal cord herniation following surgery is an extremely uncommon clinical condition with very few reports in published literature. This condition usually occurs as a spontaneous idiopathic phenomenon often in the thoracic spine or following a scenario of post traumatic spinal cord/nerve root injury. Rarely has it been reported following spinal cord tumor surgery. To document a case of cervical spinal cord herniation as a late onset complication following spinal cord tumor surgery with an atypical presentation of monoparesis. Case report. We describe the clinical presentation, operative procedure, post operative outcome and review of literature of this rare clinical condition. A 57-year-old man presented with right upper limb monoparesis due to a spinal cord herniation 6 years after a cervical intradural meningioma excision. The patients underwent surgery to reduce the herniation and duroplasty with subsequent complete resolution of symptoms. Spinal cord herniation must be considered as differential diagnosis in scenarios of spinal cord tumor excision presenting with late onset neurological deficit. These cases may present as paraparesis, Brown-sequard syndrome and rarely as in our case as monoparesis.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques.

PubMed

Pant, Vandana A; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques

PubMed Central

Pant, Vandana A.; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique. PMID:26668468

Tuberculosis-associated Fibrosing Mediastinitis: Case Report and Literature Review.

PubMed

Tan, Ronald; Martires, Joanne; Kamangar, Nader

2016-01-01

Fibrosing mediastinitis is a rare condition defined by the presence of fibrotic mediastinal infiltrates that obliterate normal fat planes. It is a late complication of a previous granulomatous infection, such as histoplasmosis or tuberculosis (TB). Due to its rarity, fibrosing mediastinitis is often under-recognized, and the clinical presentation is variable and dependent on the extent of infiltration or encasement of structures within the mediastinum. We present a case of fibrosing mediastinitis in a man with a prior history of TB, who presented with progressive dyspnea and was found to have chronic mediastinal soft tissue opacities and pulmonary hypertension. His diagnosis was delayed due to the lack of recognition of this clinical/radiographic entity. Fibrosing mediastinitis is a rare entity usually caused by granulomatous disease. Most cases develop as a late complication of histoplasmosis or TB. The presence of calcified mediastinal soft tissue infiltrates on advanced chest imaging can be diagnostic of fibrosing mediastinitis in patients with a prior history of a granulomatous infection once active processes such as malignancy are excluded.

Intradural Extramedullary Capillary Hemangioma in the Upper Cervical Spine: First Report.

PubMed

Bouali, Sofiene; Maatar, Nidhal; Bouhoula, Asma; Abderrahmen, Khansa; Kallel, Jalel; Jemel, Hafedh

2016-08-01

The occurrence of intradural extramedullary capillary hemangiomas is exceedingly rare. To date, only 39 cases of intradural extramedullary capillary hemangiomas have been reported in the English literature, and all of these cases have been described at the lumbar and thoracic spinal levels. To our knowledge, this report is the first case of capillary hemangiomas of the cervical spine in the literature. In general, this entity is misdiagnosed preoperatively as a neoplasm. A 29-year-old man presented with neck pain and progressive gait disturbance, and was diagnosed with an intradural extramedullary capillary hemangioma in the cervical region. Although rare, our case demonstrates that capillary hemangioma should be considered in the differential diagnosis of intradural extramedullary tumor of the cervical spine. Copyright © 2016 Elsevier Inc. All rights reserved.

Coloseminal fistula complicating sigmoid diverticulitis.

PubMed

Barret, Maximilien; Cuenod, Charles-André; Jian, Raymond; Cellier, Christophe; Berger, Anne

2014-01-01

We report on a 32-year-old man with a history of chronic lower abdominal pain and urogenital symptoms, leading to the diagnosis of coloseminal fistula complicating diverticular disease. We reviewed the literature on this rare clinical entity and would like to stress the role of pelvic imaging with rectal contrast to investigate complicated forms of diverticular disease. 2014 S. Karger AG, Basel.

Tuberculous pseudotumor of the liver

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dhekne, R.D.; Moore, W.H.; Long, S.E.

1987-10-01

Tuberculosis of the liver in association with generalized miliary tuberculosis is not an uncommon clinical entity. A solitary tuberculous liver abscess, however, is rare. Two such cases, in which there was no clinical evidence of extrahepatic tuberculosis, are reported. The similarities between this condition and other causes of hepatic lesions are discussed, with particular emphasis placed on the imaging patterns of various diagnostic imaging procedures.

[Aggressive fibromatosis of the nasal sinuses].

PubMed

Artazkoz del Toro, J J; Pons Rocher, F; Dalmau Galofré, J; Mompó Romero, L; Guallart Domènech, F; Serrano Badía, E

1994-01-01

A case report of a feminine patient who complained of nasal ventilatory obstruction and nasosinusal polyposis is presented. She underwent surgery and the pathological study revealed the existence of an aggressive fibromatosis. The AA. review the literature dealing with this illness and explain an update state of the clinical features, treatment and the course of this rare entity, closely related to fibrosarcoma.

Cheek-biting disorder: another stereotypic movement disorder?

PubMed

Sarkhel, Sujit; Praharaj, Samir Kumar; Akhtar, Sayeed

2011-12-01

Recurrent cheek biting, a form of self-injurious behavior is a rare entity which presents mostly to dentists and dermatologists. We report a case of recurrent severe cheek biting in an adult male leading to mucosal ulceration. The stereotypic pattern of cheek biting and associated behavior bears striking resemblance to other impulse control disorders. Copyright © 2011 Elsevier Ltd. All rights reserved.

Psoriasiform Keratosis - Case report*

PubMed Central

Pires, Carla Andréa Avelar; de Sousa, Brena Andrade; do Nascimento, Carla do Socorro Silva; Moutinho, Ana Thais Machado; de Miranda, Mario Fernando Ribeiro; Carneiro, Francisca Regina Oliveira

2014-01-01

Psoriasiform Keratosis is a rare clinic entity. The etiopathogenesis remains unknown and the disease is characterized by a solitary, scaly or keratotic papule, or plaque mainly located on the extremities. Histopathological features closely resemble those of psoriasis. We report the case of a 70-year-old woman presenting a solitary and asymptomatic keratotic plaque, located on the back of the left leg, unresponsive to topical corticosteroids. We performed an excisional biopsy and histopathology was consistent with psoriasiform keratosis. PMID:24770510

Migratory Bone Marrow Edema Syndrome of the Hips: A Case Report

PubMed Central

Santoso, A; Ingale, PS; Park, KS

2017-01-01

Migratory bone marrow edema syndrome (BMES) of the hip is a rare entity. We report the case of a 41-year old male with migratory BMES of the hip with eight months interval period between onset of the pain and consultation. This patient was successfully treated non-surgically. It is important to always inform the patient with unilateral BMES of the hip regarding the possibility of future involvement of the contralateral hip. PMID:29326770

Massive ovarian oedema: a misleading clinical entity.

PubMed

Machairiotis, Nikolaos; Stylianaki, Aikaterini; Kouroutou, Paraskevi; Sarli, Polixeni; Alexiou, Nikolaos Konstantinos; Efthymiou, Elias; Maras, Athanasios; Alexiou, Nikolaos Georgios; Nikolaou, Spyridon Evaggelos; Courcoutsakis, Nikolaos; Papakonstantinou, Eleni; Zarogoulidis, Paul; Barbetakis, Nikolaos; Paliouras, Dimitrios; Gogakos, Apostolos; Machairiotis, Christodoulos

2016-02-03

Massive ovarian oedema is a rare non-neoplastic clinicopathologic entity has a higher incidence in women during their second and third life decade. The oedema can be presented in one or both ovaries as a result of partial intermittent torsion of the ovarian pedicle that interferes to the venal and lymphatic drainage of the ovary. We present a clinical case of a 16 year old with massive ovarian oedema and we performed a review of the literature. The pathophysiology of this entity is very complex. We tried to perform a complete review of the literature and focus on the complexity of this entity as far as its pathophysiological backround is concerned and as far as its clinical presentation is concerned. In conclusion, massive ovarian oedema is a rare, multi disease mimicking clinical entity, with an acute or progressive clinical presentation. It has also to be a part of our differential diagnosis in cases of acute abdominal pain and we have to try to treat her conservatively, in order to preserve fertility.

Jadassohn Lewandowsky Syndrome: A Rare Entity

PubMed Central

Prasad, Anupama Manohar; Inakanti, Yugandar; Kumar, Shiva

2015-01-01

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn–Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth. PMID:26538744

Solitary Fibrous Tumor of Retromolar Pad; a Rare Challenging Case

PubMed Central

Lotfi, Ali; Mokhtari, Sepideh; Moshref, Mohammad; Shahla, Maryam; Atarbashi Moghadam, Saede

2017-01-01

Solitary fibrous tumor has a wide spectrum of histopathologic features and many tumors show similar microscopic features. This similarity poses diagnostic challenges to the pathologists and immunohistochemical analysis is required in many cases. Moreover, it is a rare entity in orofacial region which consequently would make its diagnosis more challenging in oral cavity. The knowledge of various microscopic patterns of this tumor contributes to a proper diagnosis and prevents unnecessary treatment. This study reports a case of solitary fibrous tumor in the retromolar pad area and discusses its various histological features and differential diagnoses. PMID:28620640

Monophasic synovial sarcoma of posterior pharyngeal wall: a rare case report with unique reconstruction using lateral trapezius flap.

PubMed

Agarwal, Mudit; Singh, Abhishek; Abrari, Adleeb; Singh, Naveen

2017-04-01

Synovial sarcoma is a rare entity to be encountered in the head and neck region and is always a challenge in terms of diagnosis, treatment planning and reconstruction of the surgical defect. In our case, we faced a similar challenge for diagnosis and also have ventured for lateral trapezius flap as a new reconstructive option for such bulky tumour defects. We hereby present a 25-year old male patient with monophasic synovial sarcoma of posterior pharyngeal wall. The radiological and clinicopathological features along with various diagnostic tests and treatment options are discussed.

Spermatic cord dedifferentiated liposarcoma presenting as a recurrent inguinal hernia.

PubMed

Crigger, Chad; Barnard, John; Zaslau, Stanley; Vos, Jeffrey A

2016-12-01

Paratesticular sarcomas are a rare entity and provide a unique clinical challenge due to their slow growing, often painless natural course. Adding to this challenge is the complex anatomy of the scrotum that allows these masses to mimic other conditions, including inguinal hernia, cysts, or fluid collections. We report such a case and our approach to an 83-year-old male with dedifferentiated liposarcoma of the spermatic cord with a history of inguinal hernia. In doing so, we highlight the need for thorough evaluation of scrotal masses and the management of these rare, though well-described, tumors.

De Garengeot's hernia: our experience of three cases and literature review

PubMed Central

Akbari, Khalid; Wood, Claire; Hammad, Ahmed; Middleton, Simon

2014-01-01

Groin hernia is a common surgical presentation and nearly half of the femoral hernias present acutely with strangulation. The hernia sac usually contains omentum or small bowel. Rarely, the appendix can herniate into the femoral canal. De Garengeot's hernia is the term used to describe the presence of appendicitis in the femoral hernia. Hernia explorations are performed by surgical trainees and encountering a De Garengeot's hernia can be challenging to manage. We report our experience of three cases of this rare entity and a literature review to improve our understanding for optimum management. PMID:25080546

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

PubMed

Raza, Muhammad Ummear; Ullah, Waheed; Malik, Sajid

2016-09-01

Congenital constriction ring (CCR) and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability (ID) and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments. The association of limb deficiency conditions with these anomalies is very rare. Differential diagnosis and literature survey have been offered to establish the rarity of these entities.

Primary Ewing's Sarcoma of the Temporal Bone: A Rare Case Report and Literature Review.

PubMed

Gupta, Divya; Gulati, Achal; Purnima

2017-09-01

Ewing's sarcoma is a malignant, round cell tumor arising from the bones and primarily affecting children and adolescent, accounting for 3 % of all childhood malignancies. Although the long bones and the trunk are typically affected, rare cases of it involving isolated bones throughout the body have been reported. Involvement of the skull bones is rare, constituting 1-6 % of the total Ewing's sarcoma cases but those affecting the cranial bones are rarer still, constituting only 1 %. We describe an 8 months old infant having Ewing sarcoma, of the petrous and mastoid parts of temporal bone along with the occipital bone, whose clinical presentation mimicked mastoiditis with facial nerve palsy. We discuss the clinical and therapeutic course of an extensive primary Ewing sarcoma of the temporal bone, which was treated without performing surgery and review this entity's literature in detail.

Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

PubMed

Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

2017-05-01

Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

Metastatic giant basal cell carcinoma: a case report.

PubMed

Bellahammou, Khadija; Lakhdissi, Asmaa; Akkar, Othman; Rais, Fadoua; Naoual, Benhmidou; Elghissassi, Ibrahim; M'rabti, Hind; Errihani, Hassan

2016-01-01

Basal cell carcinoma is the most common skin cancer, characterised by a slow growing behavior, metastasis are extremely rare, and it occurs in less than 0, 1% of all cases. Giant basal cell carcinoma is a rare form of basal cell carcinoma, more aggressive and defined as a tumor measuring more than 5 cm at its largest diameter. Only 1% of all basal cell carcinoma develops to a giant basal cell carcinoma, resulting of patient's negligence. Giant basal cell carcinoma is associated with higher potential of metastasis and even death, compared to ordinary basal cell carcinoma. We report a case of giant basal cell carcinoma metastaticin lung occurring in a 79 years old male patient, with a fatal evolution after one course of systemic chemotherapy. Giant basal cell carcinoma is a very rare entity, early detection of these tumors could prevent metastasis occurrence and improve the prognosis of this malignancy.

Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis

PubMed Central

Ashish, Gulia; Shashikant, Juvekar; Ajay, Puri; Subhash, Desai

2016-01-01

Introduction: Melorheostosis is a benign bone dysplasia affecting predominantly the appendicular skeleton and adjoining soft tissues. The diagnosis can be established on plain radiographs alone and advanced imaging modalities can be avoided. We hereby report a rare case of melorheostosis affecting the foot with a review of the role of various imaging modalities in diagnosis of this rare bone dysplasia. Case Report: We present the case of a 29 years old man who was diagnosed with melorheostosis affecting his left foot. The patient presented to the outpatient department of our tertiary care referral hospital with complains of pain in the left ankle and foot with imaging and evaluation done at a primary center. The radiograph revealed an irregular, longitudinal extraosseous hyperostosis along the body of the calcaneum and the metacarpals which was consistent with the classical radiological description of melorheostosis. The CT, MRI and bone scan findings corroborated our primary diagnosis. Conclusion: The purpose of this case report is to review the features of this rare disorder affecting the foot, on multiple imaging modalities and emphasizing the role of conventional radiology in its diagnosis. PMID:27299136

Diffuse lipomatosis of the thyroid gland with papillary microcarcinoma: Report of a rare entity.

PubMed

Nandyala, Hariharanadha Sarma; Madapuram, Srinivasulu; Yadav, Megha; Katamala, Sudheer Kumar

2015-01-01

Presence of lobules of adipose tissue either focally or diffusely is very rare in the thyroid gland. Fat accumulation can be macroscopic or microscopic. Focal infiltrates of fat have been reported in conditions such as adenolipoma, intrathyroid lipoma, and encapsulated papillary carcinoma. Diffuse lipomatosis has been reported in conditions such as amyloid goitre, heterotopic fat nests, thyrolipoma and liposarcoma. The exact mechanism of fat accumulation is not known although there are many theories postulated. Investigations such as ultrasound, computed tomography scan, and magnetic resonance imaging can detect the presence of macroscopic fat in the thyroid gland. Accurate diagnosis of the type of fat accumulation is necessary because tumorous and nontumorous conditions fall into the differential diagnosis. Only nine cases of papillary carcinoma associated with lipomatosis of thyroid are reported so far. We report possibly the first case of diffuse lipomatosis of the thyroid gland with a focus of papillary microcarcinoma.

Guillain-Barre syndrome complicating chikungunya virus infection.

PubMed

Agarwal, Ayush; Vibha, Deepti; Srivastava, Achal Kumar; Shukla, Garima; Prasad, Kameshwar

2017-06-01

Chikungunya virus (CHIKV) is a mosquito-borne alphavirus which presents with symptoms of fever, rash, arthralgia, and occasional neurologic disease. While outbreaks have been earlier reported from India and other parts of the world, the recent outbreak in India witnessed more than 1000 cases. Various systemic and rarely neurological complications have been reported with CHIKV. We report two cases of Guillain-Barré syndrome (GBS) with CHIKV. GBS is a rare neurological complication which may occur after subsidence of fever and constitutional symptoms by several neurotropic viruses. We describe two cases of severe GBS which presented with rapidly progressive flaccid quadriparesis progressing to difficulty in swallowing and breathing. Both required mechanical ventilation and improved partly with plasmapharesis. The cases emphasize on (1) description of the rare complication in a setting of outbreak with CHIKV, (2) acute axonal as well as demyelinating neuropathy may occur with CHIKV, (3) accurate identification of this entity during outbreaks with dengue, both of which are vector borne and may present with similar complications.

Mucobilia in Association With a Biliary Cystadenocarcinoma of the Caudate Duct: A Rare Cause of Malignant Biliary Obstruction

PubMed Central

Chamberlain, Ronald S.

2000-01-01

Mucobilia is a rare condition characterized by the accumulation of abundant mucus within the intra- or extrahepatic biliary tree. A variety of hepatobiliary and pancreatic neoplasms are mucin producing and have been associated with the development of mucobilia including biliary mucinosis, biliary papillomatosis, mucin-producing cholangiocarcinoma (MPCC), or cystic neoplasms of the pancreas or biliary tree (cystadenoma or cystadenocarcinoma). We report the case of 46 year-old male with a biliary cystadenocarcinoma of the caudate lobe which resulted in chronic biliary obstruction and relapsing cholangitis. A review of the literature for both mucobilia and biliary cystadenocarcinoma is provided along with a discussion addressing the clinical presentation, diagnosis, treatment, and prognosis for this rare entity. PMID:10674751

Glial heterotopia of the orbit: a rare cause of proptosis.

PubMed

Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Gastric heterotopia in the rectum. A rare cause of ectopic gastric tissue.

PubMed

Salem, George A; Fazili, Javid; Ali, Tauseef

2017-03-01

Gastric heterotopia refers to the discovery of normal gastric tissue at foreign, unexpected sites. It has been described anywhere in the alimentary tract, even in the mediastinum, scrotum, and spinal cord. It is not uncommonly seen in the oesophagus or small intestine. However, large bowel lesions are rare, with the most common location of colonic lesions is the rectum. Although it is a rare entity, it may be the source for significant problems such as rectal bleeding, abdominal pain, deep rectal pain, and malignancy. Here, we report an additional case of gastric heterotopia in the rectum of a 56year old gentleman, and review the literature. Copyright © 2017 Pan-Arab Association of Gastroenterology. Published by Elsevier B.V. All rights reserved.

A rare case of suprahepatic gall bladder with phocomelia and pancytopenia: detected by tc-99m mebrofenin scintigraphy.

PubMed

Rather, Tanveeer Ah; Khan, Shoukat H; Singh, Manjeet; Choh, Naseer A

2013-01-01

The possibility of an ectopic gallbladder should always be considered whenever there is a failure to localize it in its normal anatomical position on routine imaging. Although a very rare entity, the anomalous position of gallbladder can result in misinterpretation of imaging findings and create clinical confusion. Awareness of such an anomaly facilitates proper diagnosis and subsequent management. The authors report a very rare case of suprahepatic gallbladder associated with phocomelia, pancytopenia, and splenomegaly in a young 25-year-old female. The suprahepatic gallbladder was initially visualized on Technetium-99m (Tc-99m) Mebrofenin radionuclide hepatobiliary scintigraphy. Subsequent magnetic resonance cholecystopancreatography (MRCP) was also done to confirm the diagnosis.

Case report of an unusual combination of purulent pericarditis and false aneurysm of the ascending aorta.

PubMed

Meier, David; Kirsch, Matthias; Qanadli, Salah Dine; Muller, Olivier; Fishman, Daniel; Trana, Catalina

2018-01-29

Purulent pericarditis is an uncommon entity, which is, in very rare cases, associated to infection of the aorta. We present the case of a 42-year-old male patient, who was admitted to hospital complaining of tiredness, diarrhea and leg edema. Clinical examination revealed a hypotensive and obviously shocked patient. He was ultimately diagnosed with a rare combination of purulent pericarditis followed by false aneurysm of the ascending aorta. He was successfully treated by surgical pericardial drainage, replacement of the ascending aorta and antibiotics. Mycotic aneurysms can rarely be associated with purulent pericarditis. Our literature review shows that there are two mechanisms explaining this association and that in most of the published cases infective endocarditis could not be demonstrated.

A Rare Case of Suprahepatic Gall Bladder with Phocomelia and Pancytopenia: Detected by Tc-99m Mebrofenin Scintigraphy

PubMed Central

Rather, Tanveeer Ah; Khan, Shoukat H.; Singh, Manjeet; Choh, Naseer A.

2013-01-01

The possibility of an ectopic gallbladder should always be considered whenever there is a failure to localize it in its normal anatomical position on routine imaging. Although a very rare entity, the anomalous position of gallbladder can result in misinterpretation of imaging findings and create clinical confusion. Awareness of such an anomaly facilitates proper diagnosis and subsequent management. The authors report a very rare case of suprahepatic gallbladder associated with phocomelia, pancytopenia, and splenomegaly in a young 25-year-old female. The suprahepatic gallbladder was initially visualized on Technetium-99m (Tc-99m) Mebrofenin radionuclide hepatobiliary scintigraphy. Subsequent magnetic resonance cholecystopancreatography (MRCP) was also done to confirm the diagnosis. PMID:23961256

Rare presentation of ruptured syphilitic aortic aneurysm with pseudoaneurysm.

PubMed

de Almeida Feitosa, Israel Nilton; Dantas Leite Figueiredo, Magda; de Sousa Belem, Lucia; Evelin Soares Filho, Antônio Wilon

2015-11-01

We report the interesting case of a rare form of presentation of rupture of the ascending aorta with formation of a pseudoaneurysm, diagnosed following the development of a large mass on the surface of the chest over a period of about eight months. Serological tests were positive for syphilis. Echocardiography and computed tomography angiography were essential to confirm the diagnosis and therapeutic management. Cardiovascular syphilis is a rare entity since the discovery of penicillin. Rupture of an aortic aneurysm with formation of a pseudoaneurysm is a potentially fatal complication. The postoperative period was uneventful and the patient was discharged from hospital within days of surgery. Copyright © 2015 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Gingival leiomyomatous hamartoma of the maxilla: a rare entity

PubMed Central

Raghunath, Vandana; Manjunatha, Bhari Sharanesha; Al-Thobaiti, Yasser

2016-01-01

Hamartoma is a tumour-like malformation appearing as a focal overgrowth of normal cells. Leiomyomatous hamartomas (LHs) are rare in the oral cavity and commonly seen in the Japanese and less than 40 cases have been reported in the Japanese and English literature. The clinical differential diagnoses are irritational (traumatic) fibroma and congenital epulis. It has to be differentiated histopathologically from its neoplastic counterparts and mesenchymomas. Hence, we report such a case of LHs, which presented as a sessile gingival growth occurring in the midline in a 15-year-old girl. The final diagnosis was based on the histopathological appearance which was confirmed by immunohistochemical staining of various markers. A review of the literature of previous cases was also carried out. PMID:27161203

Gingival leiomyomatous hamartoma of the maxilla: a rare entity.

PubMed

Raghunath, Vandana; Manjunatha, Bhari Sharanesha; Al-Thobaiti, Yasser

2016-05-09

Hamartoma is a tumour-like malformation appearing as a focal overgrowth of normal cells. Leiomyomatous hamartomas (LHs) are rare in the oral cavity and commonly seen in the Japanese and less than 40 cases have been reported in the Japanese and English literature. The clinical differential diagnoses are irritational (traumatic) fibroma and congenital epulis. It has to be differentiated histopathologically from its neoplastic counterparts and mesenchymomas. Hence, we report such a case of LHs, which presented as a sessile gingival growth occurring in the midline in a 15-year-old girl. The final diagnosis was based on the histopathological appearance which was confirmed by immunohistochemical staining of various markers. A review of the literature of previous cases was also carried out. 2016 BMJ Publishing Group Ltd.

Hemorrhagic Transformation of Scrub Typhus Encephalitis: A Rare Entity.

PubMed

Kim, H-C; Yoon, K-W; Yoo, D-S; Cho, C-S

2015-12-01

Central nervous system (CNS) involvement of scrub typhus infection is well known. Most CNS involvement of scrub typhus infection present as meningitis or encephalitis. We report on a patient suffering from hemorrhagic transformation of intracranial lesions caused by Orientia tsutsugamushi. A 53-year-old female farmer who was infected by scrub typhus was treated with doxycycline and recovered from the systemic illness. However, headache persisted. Brain radiologic studies revealed acute intracranial hemorrhage and enhancing lesion, which implied a CNS involvement. Hemorrhagic transformation of encephalitis by scrub typhus is very rare complication and to our best knowledge, this is the first report of hemorrhagic transformation of scrub typhus encephalitis. Clinician should consider the possibility of hemorrhagic transformation of encephalitis in cases of scrub typhus infection.

Catamenial Pain in Umbilical Hernia with Spontaneous Reduction: An Unusual Presentation of a Rare Entity.

PubMed

Pandey, Divya; Sharma, Ritu; Salhan, Sudha

2015-08-01

Spontaneous umbilical endometriosis occurring in absence of any previous abdominal or uterine surgery is extremely atypical. Its association with umbilical hernia is very rare and hernia getting spontaneously resolved has not been reported in literature so far. Here we report a case of a patient with spontaneous umbilical endometriosis associated with umbilical hernia which led to spontaneous hernia reduction. This was also associated with multiple uterine fibromyoma and bilateral ovarian endometrioma which were simultaneously treated by total abdominal hysterectomy with bilateral salpingo-oopherectomy along with surgical excision of the endometriotic tissue and repair of the abdominal wall defect. To the best of our knowledge, this is the first described case of spontaneous umbilical hernia reduction due to development of endometriosis.

Large dermoid cyst of the spermatic cord presenting as an incarcerated hernia: a rare presentation and literature review.

PubMed

Salemis, N S; Karagkiouzis, G; Sambaziotis, D; Tsiambas, E

2010-06-01

Dermoid cyst of the spermatic cord is a very rare clinical entity with only a few cases reported in the literature so far. We herein describe an extremely rare case of a large dermoid cyst of the spermatic cord measuring 8.5 x 5 x 5 cm in a young patient who presented with clinical manifestations of an incarcerated inguinal hernia. After the cyst excision, a diffuse direct hernia became apparent and a Lichtenstein polypropylene mesh repair was performed. Direct hernia was likely the result of chronic pressure on the inguinal floor maintained by the large cyst. We conclude that although very rare, dermoid cyst of the spermatic cord should be considered as a part of the differential diagnosis in patients presenting with an irreducible inguinal mass of a long course.

Cutaneous metastasis of transitional cell bladder carcinoma: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S; Gakis, Christos; Zografidis, Andreas; Gourgiotis, Stavros

2011-01-01

Cutaneous metastasis from transitional cell bladder carcinoma is a rare clinical entity associated with poor prognosis. We present a case of cutaneous metastasis arising from a transitional cell bladder carcinoma in a male patient who had undergone a radical cystectomy and bilateral ureterostomy 17 months previously. The cutaneous metastasis became evident 3 months before the manifestations of generalized recurrent disease. An awareness of this rare clinical entity and high index of suspicion is needed to rule out metastatic spread in patients with a previous history of transitional cell bladder carcinoma presenting with cutaneous nodules. Definitive diagnosis requires a histological confirmation, but prognosis is generally poor.

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity

PubMed Central

Yang, Jason; Ciacci, Joseph D.

2017-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease with a characteristic clinical course in subcortical white matter; however, atypical presentations of brainstem involvement may be seen in rare cases. This review summarizes reports to date on brainstem involvement in SSPE, including the clinical course of disease, neuroimaging presentations, and guidelines for treatment. A comprehensive literature search was performed for English-language publications with keywords “subacute sclerosing panencephalitis” and “brainstem” using the National Library of Medicine PubMed database (March 1981–September 2017). Eleven articles focusing on SSPE of the brainstem were included. Predominant brainstem involvement remains uncharacteristic of SSPE, which may lead to misdiagnosis and poor outcome. A number of case reports have demonstrated brainstem involvement associated with other intracranial lesions commonly presenting in later SSPE stages (III and IV). However, brainstem lesions can appear in all stages, independent of higher cortical structures. The varied clinical presentations complicate diagnosis from a neuroimaging perspective. SSPE of the brainstem is a rare but important clinical entity. It may present like canonical SSPE or with unique clinical features such as absence seizures and pronounced ataxia. While SSPE generally progresses to the brainstem, it can also begin with a primary focus of infection in the brainstem. Awareness of varied SSPE presentations can aid in early diagnosis as well as guide management and treatment. PMID:29112137

Subacute Sclerosing Panencephalitis of the Brainstem as a Clinical Entity.

PubMed

Upadhyayula, Pavan S; Yang, Jason; Yue, John K; Ciacci, Joseph D

2017-11-07

Subacute sclerosing panencephalitis (SSPE) is a rare progressive neurological disorder of early adolescence caused by persistent infection of the measles virus, which remains prevalent worldwide despite an effective vaccine. SSPE is a devastating disease with a characteristic clinical course in subcortical white matter; however, atypical presentations of brainstem involvement may be seen in rare cases. This review summarizes reports to date on brainstem involvement in SSPE, including the clinical course of disease, neuroimaging presentations, and guidelines for treatment. A comprehensive literature search was performed for English-language publications with keywords "subacute sclerosing panencephalitis" and "brainstem" using the National Library of Medicine PubMed database (March 1981-September 2017). Eleven articles focusing on SSPE of the brainstem were included. Predominant brainstem involvement remains uncharacteristic of SSPE, which may lead to misdiagnosis and poor outcome. A number of case reports have demonstrated brainstem involvement associated with other intracranial lesions commonly presenting in later SSPE stages (III and IV). However, brainstem lesions can appear in all stages, independent of higher cortical structures. The varied clinical presentations complicate diagnosis from a neuroimaging perspective. SSPE of the brainstem is a rare but important clinical entity. It may present like canonical SSPE or with unique clinical features such as absence seizures and pronounced ataxia. While SSPE generally progresses to the brainstem, it can also begin with a primary focus of infection in the brainstem. Awareness of varied SSPE presentations can aid in early diagnosis as well as guide management and treatment.

Achondroplasia and multiple-suture craniosynostosis.

PubMed

Albino, Frank P; Wood, Benjamin C; Oluigbo, Chima O; Lee, Angela C; Oh, Albert K; Rogers, Gary F

2015-01-01

Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or syndromic forms of craniosynostosis. Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia. We report an infant with achondroplasia who developed progressive multiple-suture craniosynostosis to discuss the genetic link between these clinical entities and to describe the technical challenges associated with the operative management.

GIANT PEDUNCULATED SEBORRHEIC KERATOSIS OF PENIS

PubMed Central

Thakur, Jagdeep S; Thakur, Anamika; Chauhan, C G S; Diwana, Vijay K; Chauhan, D C

2008-01-01

Seborrheic keratosis of the penis is a rare entity. It has been mistaken as genital warts and differentiation is only made on histopathology. We are reporting a case presenting as multiple giant polypoidal lesions on the penile skin for the last 20 years. Seborrheic keratosis should be considered in the differential diagnosis of pedunculated lesions of the penis. The histopathology after shave excision will be diagnostic. PMID:19967020

Shah-Waardenburg Syndrome

PubMed Central

Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

2013-01-01

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities. PMID:23565307

Shah-Waardenburg syndrome.

PubMed

Mahmoudi, Abdelhalim; Rami, Mohamed; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Youssef, Bouabdallah

2013-01-01

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.

Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy.

PubMed

Wanner, Matthew R; Karmazyn, Boaz; Fan, Rong

2015-12-01

Hemobilia secondary to gallbladder polyposis is rare in children but has been reported in a few children with metachromatic leukodystrophy. We present a case with preoperative multidetector computed tomography (MDCT) diagnosis of massive hemobilia caused by gallbladder polyposis in a patient with metachromatic leukodystrophy. Our report highlights the importance of both awareness of the association of gallbladder polyposis with other syndromes such as metachromatic leukodystrophy as well as the possibility of this entity presenting with life-threatening bleeding.

Interesting presentation of Kounis syndrome secondary to amoxicillin/ clavulanate use: Coronary vasospasm and simultaneous appropriate implantable defibrillator shock.

PubMed

Canpolat, Uğur; Koçyiğit, Duygu; Aytemir, Kudret

2017-07-01

Kounis syndrome (KS) is defined as concurrent acute coronary syndrome and allergic or hypersensitivity reactions. Despite being increasingly reported, it is still an underdiagnosed entity. Several medications are already known to result in KS. Amoxicillin/clavulanic acid is a frequently used antibiotic, and its use has been linked with KS. The aim of the present report was to draw attention to rare clinical manifestation of KS following peroral amoxicillin/clavulanate use.

[Pyoderma gangrenosum and breast cancer: a new case].

PubMed

Labat, J P; Simon, H; Metges, J P; Lucas, B; Malhaire, J P

2000-06-01

We report here a new case of pyoderma gangrenosum (PG) associated with a breast cancer in a 39-year-old woman. We only found in literature three other reports of this rare entity which seems usually to be associated with monoclonal gammopathy, gastro-intestinal diseases such as Crohn's disease, chronic ulcerative colitis, leukemias or rheumatologic diseases. A commun hapten between of tumor and skin may explain the origin of this inflammatory lesion. In our case, PG could be a paraneoplastic syndrome.

Spontaneous extradural and subgaleal hematoma: A rare neurosurgical crisis of sickle cell disease

PubMed Central

Mishra, Sudhansu S.; Senapati, Satya B.; Gouda, Amiya K.; Behera, Sanjay K.; Patnaik, Ashis

2017-01-01

Extradural hematoma (EDH) in absence of trauma is a rare entity with only few cases reported in literature. The various causes reported include: Vascular malformation of dura, coagulopathies, sinus infection, middle ear or orbital infection, and tumor. Occurrence of spontaneous EDH as a complication of sickle cell disease is even much rarer. We report a case with sickle cell disease who presented with spontaneous extradural and subgaleal hematomas following an episode of vaso-oclusive crisis. He was managed successfully with surgery. The association of epidural hematomas in sickling hemoglobinopathies is reviewed. In all cases, we noticed one episode of sickle cell crisis just before the occurrence of spontaneous EDH. Perhaps this crisis puts an extra demand over the hematopoietic skull tissue disrupting inner and outer skull margins leading to spontaneous EDH and subgaleal hematoma. PMID:28413532

Report of a case combining solitary Peutz-Jeghers polyp, colitis cystica profunda, and high-grade dysplasia of the epithelium of the colon.

PubMed

Papalampros, Alexandros; Vailas, Michail G; Sotiropoulou, Maria; Baili, Efstratia; Davakis, Spiridon; Moris, Demetrios; Felekouras, Evangelos; Deladetsima, Ioanna

2017-10-18

Colitis cystica profunda is a rare nonneoplastic disease defined by the presence of intramural cysts that contain mucus, usually situated in the rectosigmoid area, which can mimic various malignant lesions and polyps. Its etiology still remains not fully elucidated, and several mechanisms such as congenital, post-traumatic, and infectious have been implicated in the development of this rare entity. Herein, we describe a unique case of colitis cystica profunda in the setting of Peutz-Jeghers-type polyp of the sigmoid colon, associated with high-grade dysplasia of the overlying epithelium in a 48-year-old female patient, who presented to the emergency room with signs of intestinal obstruction. To the best of our insight, this is the first manifestation ever reported in the literature regarding the coexistence of solitary Peutz-Jeghers-type polyp, colitis cystica profunda, and high-grade dysplasia of the epithelium of the colon. The purpose of this case report is to highlight colitis cystica profunda and its clinical significance. An uncommon nonneoplastic entity, many times masquerading as malignant lesion of the rectosigmoid area of the colon. Clinicians and pathologists should be aware of this benign condition that is found incidentally postoperatively in patients undergoing colectomies, leading to unnecessary increase of morbidity and mortality in these patients, who otherwise could have been cured with conservative treatment only.

Endoscopic Endonasal Transsphenoidal Drainage of a Spontaneous Candida glabrata Pituitary Abscess.

PubMed

Strickland, Ben A; Pham, Martin; Bakhsheshian, Joshua; Carmichael, John; Weiss, Martin; Zada, Gabriel

2018-01-01

Noniatrogenic pituitary abscess remains a rare clinical entity, and is the indication for surgery in <1% of transsphenoidal approaches. Correct diagnosis of this rare entity is often delayed. Without timely treatment, morbidity and mortality are high. Of the 200 cases reported to date, less than one-half have identified a causative organism. We report the second case of a pituitary abscess caused by Candida species, and also provide an intraoperative video showing the endoscopic management of this pathology. A 33-year-old woman presented with headache, hypopituitarism, and vision loss in the setting of diabetic ketoacidosis, and was found to have multiple abscesses in the liver, lung, kidney, and uterus. Brain magnetic resonance imaging revealed a 15-mm cystic sellar mass with restricted diffusion. The patient underwent urgent evacuation of the abscess via an endoscopic endonasal transsphenoidal route, with obvious purulent material filling the sella, later identified as Candida glabrata. Antimicrobial therapy was refined appropriately, and she exhibited significant improvement in neurologic function, although endocrinopathy has persisted. With timely management, including a combination of surgical drainage and appropriate antimicrobial therapy, neurologic outcomes are good in most cases of pituitary abscess; however, endocrinopathy often does not improve. Although most reported cases with identified causative organisms speciate bacteria, some cases are of fungal etiology and require different antimicrobial agents. This further underscores the importance of identifying the causative agent. Copyright © 2017 Elsevier Inc. All rights reserved.

Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis.

PubMed

Ashish, Gulia; Shashikant, Juvekar; Ajay, Puri; Subhash, Desai

2016-01-01

Melorheostosis is a benign bone dysplasia affecting predominantly the appendicular skeleton and adjoining soft tissues. The diagnosis can be established on plain radiographs alone and advanced imaging modalities can be avoided. We hereby report a rare case of melorheostosis affecting the foot with a review of the role of various imaging modalities in diagnosis of this rare bone dysplasia. We present the case of a 29 years old man who was diagnosed with melorheostosis affecting his left foot. The patient presented to the outpatient department of our tertiary care referral hospital with complains of pain in the left ankle and foot with imaging and evaluation done at a primary center. The radiograph revealed an irregular, longitudinal extraosseous hyperostosis along the body of the calcaneum and the metacarpals which was consistent with the classical radiological description of melorheostosis. The CT, MRI and bone scan findings corroborated our primary diagnosis. The purpose of this case report is to review the features of this rare disorder affecting the foot, on multiple imaging modalities and emphasizing the role of conventional radiology in its diagnosis.

Giant oral lipoma: a rare entity*

PubMed Central

Ponce, José Burgos; Ferreira, Gustavo Zanna; Santos, Paulo Sérgio da Silva; Lara, Vanessa Soares

2016-01-01

Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in size and etiology remains unclear. We report a young male patient presenting with a giant lipoma in the buccal mucosa. Histopathology revealed a large area of mature fat cells consistent with conventional lipoma and an area of the mucosal lining of the lesion suggestive of morsicatio buccarum. In the present article, we emphasize the clinicopathological features and differential diagnosis of the disease. PMID:28300904

Ruptured Intrasellar Superior Hypophyseal Artery Aneurysm Presenting with Pure Subdural Haematoma

PubMed Central

Hornyak, M.; Hillard, V.; Nwagwu, C.; Zablow, B. C.; Murali, R.

2004-01-01

Summary Subdural haemorrhage from a ruptured intracranial aneurysm is a well-known entity when associated with subarachnoid haemorrhage. However, haemorrhage confined only to the subdural space is rare because there are limited anatomical sites where extravasation can be purely subdural. We report the rare case of a patient who suffered pure subdural haematoma after the rupture of a left superior hypophyseal artery aneurysm located within the sella turcica. The patient was treated with endovascular coil embolization of the aneurysm. Angiography immediately after treatment and one month later revealed complete obliteration of the aneurysm. Six months after treatment, the patient remained symptom free. PMID:20587264

3M syndrome: a report of four cases in two families.

PubMed

Güven, Ayla; Cebeci, Ayşe Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.

Case Report: Diagnosis of a Rare Plaque-Like Dermal Fibroma Successfully Treated With Mohs Surgery.

PubMed

Gill, Pavandeep; Arlette, John; Shiau, Carolyn J; Abi Daoud, Marie S

CD34-positive plaque-like dermal fibroma (PDF) is a poorly characterised benign dermal neoplasm that has a wide differential diagnosis. It can be mistaken for other entities on superficial biopsy and be overtreated, leading to unnecessary worry and extensive surgery. To report on an uncommon presentation of this entity, the histopathologic differential diagnosis of PDF, and a novel treatment method. Clinical and histopathological information was obtained for a PDF lesion on a 75-year-old man. On superficial biopsy, the PDF lesion was misinterpreted as a possible neurothekeoma. Successful Mohs surgery and genetic testing confirmed the diagnosis of PDF, and the patient received appropriate tissue-sparing surgical management. This case adds to our current knowledge about PDF and highlights the importance of early recognition of these lesions to direct appropriate diagnostic testing (full-thickness biopsy) and management. This case confirms successful management with Mohs surgery.

[Imflammatory myofibroblastic tumour of nose and paranasal sinuses in a little girl of 7-year-old].

PubMed

Lawson, S L A; Azoumah, D K; Lawson-Evi, K; N'Timon, B; Savi de Tove, H-M; Yehouessi-Vignikin, B; Kpemissi, E

2010-01-01

Inflammatory myofibroblastic tumours (IMTs) are clinical and pathological distinct entities with controversial biological entities. IMTs have been described in the lungs, abdomen, retroperitoneum and extremities but rarely in the head and neck region. This case report corresponds to an IMT of the nose and the paranasal sinuses in a little girl of 7 years of age. The computed tomography scan showed an expanding tumoral process without skull destruction. First case report in the west African region, this observation describes the treatment instituted according to the possible care in our medical area, and the treatment when the patient was referred to a centre with efficient technical platform. This case underlines the aggressiveness of this type of tumour: an invasive tumour with local-regional extension and high recurrence potential. Currently, after 2 years, the tumoral process is considered cured after several radical surgical excisions. Copyright 2009 Elsevier Masson SAS. All rights reserved.

3M Syndrome: A Report of Four Cases in Two Families

PubMed Central

Cebeci, Ayşe Nurcan

2011-01-01

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. PMID:21911330

A rare cause of recalcitrant coccydynia: benign dermoid cyst masquerading as coccygeal pain.

PubMed

Gaike, Chandrasekhar V; Kanna, Rishi M; Shetty, Ajoy P; Rajasekaran, S

2016-05-01

Coccydynia is a common entity in orthopedic practice, and various etiologies have been described for it. However, benign dermoid cyst causing coccydynia has not yet been reported. A 20-year-old male presented with typical symptoms of coccydynia recalcitrant to conservative treatment for 2 years. Since pain interfered with his daily activities, magnetic resonance imaging was performed which showed a circumscribed precoccygeal cystic lesion. The patient underwent coccygectomy along with cyst excision. Histological examination revealed features of benign dermoid cyst. After surgery, the patient had excellent relief of his symptoms. The case report identifies that the treating surgeon should be aware of benign dermoid cyst as one of the treatable but rare causes of intractable coccydynia, and MRI should be performed in patients with persistent coccygeal pain.

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature.

PubMed

Woo, Victoria L; Landesberg, Regina; Imel, Erik A; Singer, Steven R; Folpe, Andrew L; Econs, Michael J; Kim, Taeyun; Harik, Lara R; Jacobs, Thomas P

2009-12-01

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that results in renal phosphate wasting with hypophosphatemia. In most cases, the underlying cause of TIO is a small mesenchymal neoplasm that is often difficult to detect, resulting in delayed diagnosis. One such neoplasm is the phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT), an unusual entity with unique morphologic and biochemical features. Most of these tumors are found at appendicular sites with only rare cases reported in the jaws. We describe a PMTMCT involving the mandible in a patient with a protracted history of osteomalacia. A review of the current literature is provided with emphasis on the clinical and histologic features, etiopathogenesis, and management of PMTMCT in the setting of TIO.

Intracranial Epidural Metastases of Adrenal Pheochromocytoma: A Rare Entity.

PubMed

Boettcher, Lillian B; Abou-Al-Shaar, Hussam; Ravindra, Vijay M; Horn, Jeffrey; Palmer, Cheryl Ann; Menacho, Sarah T

2018-06-01

Pheochromocytomas are uncommon neuroendocrine tumors of the adrenal medulla. Malignant behavior is seen in approximately 10% of these lesions, evidenced by distant metastasis to sites without chromaffin tissue. Here we report a rare case of intracranial epidural metastases of an adrenal pheochromocytoma in a 24-year-old man. The patient originally presented at age 10 years with adrenal pheochromocytoma and subsequently developed extensive metastatic bone and lung disease. He was monitored in the intervening years until recent imaging demonstrated an enlarging right parietal mass. On surgical resection of the parietal lesion, the tumor was highly vascularized and confined to the epidural space. To the best of our knowledge, this is the first reported case of metastatic epidural spread of pheochromocytoma without concomitant subdural or intraparenchymal extension. Copyright © 2018 Elsevier Inc. All rights reserved.

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: Report of a case and review of the literature

PubMed Central

Woo, Victoria L.; Landesberg, Regina; Imel, Erik A.; Singer, Steven R.; Folpe, Andrew L.; Econs, Michael J.; Kim, Taeyun; Harik, Lara R.; Jacobs, Thomas P.

2009-01-01

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that results in renal phosphate wasting with hypophosphatemia. In most cases, the underlying cause of TIO is a small mesenchymal neoplasm that is often difficult to detect, resulting in delayed diagnosis. One such neoplasm is the phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT), an unusual entity with unique morphologic and biochemical features. The majority of these tumors are found at appendicular sites with only rare cases reported in the jaws. We describe a PMTMCT involving the mandible in a patient with a protracted history of osteomalacia. A review of the current literature is provided with emphasis on the clinical and histologic features, etiopathogenesis, and management of PMTMCT in the setting of TIO. PMID:19828339

[Giant epidermoid cyst of the skull with extra and intracranial extension. A case report].

PubMed

Akhaddar, A; Gazzaz, M; El Mostarchid, B; Kadiri, B; Lrhezzioui, J; Boucetta, M

2002-09-01

Intradiploic epidermoid cyst of the skull is a rare clinical entity that can exceptionally grow to a large size with intracranial extension. The authors report the case of a 38-year-old man with a giant epidermoid cyst of the parietal bone with extra and intracranial extension, presenting with focal neurological symptoms. The diagnosis was suggested at imaging (skull radiographs, CT and MRI), and confirmed at histology. Complete removal of the cyst and its capsule was performed followed by cranioplasty. Postoperatively, the patient was discharged free of symptoms. CT scan provides good evaluation of the bony lesion and may suggest intracranial extension. MRI is superior for evaluation of cerebral compression. The pathogenesis, clinical presentation, diagnostic evaluation and therapeutic management of these rare lesions are reviewed.

Trichosporon inkin and Trichosporon mucoides as unusual causes of white piedra of scalp hair.

PubMed

Tendolkar, Uma; Shinde, Alka; Baveja, Sujata; Dhurat, Rachita; Phiske, Meghana

2014-01-01

White piedra of scalp hair is considered a rare entity. We report three cases of this disorder all of whom presented with nodules on the hair. Potassium hydroxide preparations of the hair revealed clustered arthrospores and mature, easily detachable nodules. Cultures grew Trichosporon inkin in 2 patients and Trichosporon mucoides in one patient. Both these fungi are unusual causes of white piedra.

Robotic assisted laparoscopic repair of a symptomatic ureterosciatic hernia.

PubMed

Regelman, Mikhail; Raman, Jay D

2016-04-01

Ureterosciatic hernias (USH) are a rare entity and to date there have been limited case reports detailing their presentation, diagnosis, and management. Until recently, repair of ureterosciatic hernias has been performed via open, endoscopic, or purely laparoscopic approaches. We present the second known published case of a robotic approach to the USH repair with detailed outline of the surgical technique accompanied by video recording from the operative procedure.

Congenital esophageal stenosis: the differential diagnosis and management.

PubMed

Jones, Douglas W; Kunisaki, Shaun M; Teitelbaum, Daniel H; Spigland, Nitsana A; Coran, Arnold G

2010-05-01

Congenital esophageal stenosis (CES) is a rare congenital abnormality that is difficult to diagnose and often masquerades as other types of structural esophageal disease. We report three cases of CES with different presenting symptoms. We advocate for balloon dilation as the preferred first approach to therapeutic intervention. CES is an important clinical entity in the evaluation of pediatric esophageal disorders and should be suspected in young infants with dysphagia.

Capillary Hemangioma of Thoracic Spinal Cord: PET/CT and MR Findings.

PubMed

Shen, Guohua; Su, Minggang; Zhao, Junyi; Liu, Bin; Kuang, Anren

2017-05-01

Capillary hemangiomas are frequently encountered superficially in the cutaneous, subcutaneous, or mucosal tissues during the childhood and early adulthood, but the occurrence of spinal intradural capillary hemangioma is relatively rare. Herein, we report a case with capillary hemangioma of the thoracic spine. MR and PET/CT features of this lesion are presented, and awareness of this entity may help differentiate it from other spinal intradural tumors.

Reticulated telangiectatic erythema of the pacemaker.

PubMed

Martin, Lucy K; Wendschuh, Philip; Wendschuh, Peter

2008-05-01

Reticulated telangiectatic erythema is a rare entity; it has been reported to occur following the placement of implanted cardiac devices and drug delivery systems. Histologically, reticulated telangiectatic erythema of the pacemaker is characterized by slight spongiosis and increased dermal telangiectasias. We describe a patient that developed reticulated telangiectatic nonpruritic patches on the left chest after the placement of a pacemaker. The patient responded favorably to the removal of the pacemaker.

Portal vein aneurysm: What to know.

PubMed

Laurenzi, Andrea; Ettorre, Giuseppe Maria; Lionetti, Raffaella; Meniconi, Roberto Luca; Colasanti, Marco; Vennarecci, Giovanni

2015-11-01

Portal vein aneurysm is an unusual vascular dilatation of the portal vein, which was first described by Barzilai and Kleckner in 1956 and since then less than 200 cases have been reported. The aim of this article is to provide an overview of the international literature to better clarify various aspects of this rare nosological entity and provide clear evidence-based summary, when available, of the clinical and surgical management. A systematic literature search of the Pubmed database was performed for all articles related to portal vein aneurysm. All articles published from 1956 to 2014 were examined for a total of 96 reports, including 190 patients. Portal vein aneurysm is defined as a portal vein diameter exceeding 1.9 cm in cirrhotic patients and 1.5 cm in normal livers. It can be congenital or acquired and portal hypertension represents the main cause of the acquired version. Surgical indication is considered in case of rupture, thrombosis or symptomatic aneurysms. Aneurysmectomy and aneurysmorrhaphy are considered in patients with normal liver, while shunt procedures or liver transplantation are the treatment of choice in case of portal hypertension. Being such a rare vascular entity its management should be reserved to high-volume tertiary hepato-biliary centres. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Appendiceal diverticulum associated with chronic appendicitis

PubMed Central

Zubieta-O’Farrill, Gregorio; Guerra-Mora, José Raúl; Gudiño-Chávez, Andrés; Gonzalez-Alvarado, Carlos; Cornejo-López, Gilberto Bernabe; Villanueva-Sáenz, Eduardo

2014-01-01

INTRODUCTION Appendiceal diverticulosis is a rare entity, with a global incidence between 0.004% and 2.1% of all appendectomies. It has been related with an elevated risk of perforation in comparison to acute appendicitis, as well as an increased risk for synchronic appendicular cancer in 48% of the cases, and colonic cancer in 43%. The incidence of chronic appendicitis has been reported in 1.5% of all appendicitis cases. PRESENTATION OF CASE We present a 73-year-old female, with no relevant familial history, who presented due to a four-month-long oppressive, moderate pain in the lower right abdominal quadrant without irradiation or any other accompanying symptoms. DISCUSSION The documented incidence of appendiceal diverticula and chronic appendicitis by themselves is low; therefore the presence of both entities at the same time is extremely rare. CONCLUSION We present a case in which both diagnoses concurred in the same patient. The relevance of this case relies on the importance of the adequate knowledge of these pathologies, so we can approach them correctly. Although it does not represent an absolute surgical emergency, appendectomy represents the first therapeutic option. PMID:25460447

Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism.

PubMed

Reddy, Pavan; Tiwari, Kritika; Kulkarni, Abhishek; Parikh, Ketan; Khubchandani, Raju

2018-05-19

Long standing hypothyroidism presenting as an ovarian mass has been well described in literature as the Van Wyk Grumbach syndrome (hypothyroidism, isosexual precocious puberty and ovarian mass). Here, authors report this entity in a 11 y 7 mo old girl child who was referred to a surgeon in view of intestinal obstruction along with a multiloculated ovarian cyst. On evaluation, she was found to have raised serum creatinine, short stature, delayed bone age and pituitary enlargement. She was diagnosed with autoimmune thyroiditis and was started on replacement therapy with thyroxine, after which the ovarian cysts regressed. This entity should be kept in mind in cases of ovarian cysts, especially those with isosexual precocity, to prevent unnecessary evaluation and surgical misadventures.

Disseminated Oligodendroglial-like Leptomeningeal Tumor in the Adult: Case Report and Review of the Literature.

PubMed

Fiaschi, Pietro; Badaloni, Filippo; Cagetti, Bernarda; Bruzzone, Luca; Marucci, Gianluca; Dellachà, Anna; Pavanello, Marco; Ganci, Giuseppe; Padolecchia, Riccardo; Valsania, Valtero

2018-06-01

Diffuse leptomeningeal glioneuronal tumor (DLGNT) was recently added to the World Health Organization classification of central nervous system tumors. DLGNT is a rare entity that occurs more commonly in pediatric patients, but occasional cases have been reported in adults. This tumor has been recognized as a distinct pathologic entity; however, its biologic behavior remains unclear. It is considered an indolent neoplasm, although considerable morbidity has been reported. For this reason, further characterization and collection of evidence are crucial. In this article, we reported a case of a 36-year-old woman with a DLGNT characterized by rapid, aggressive behavior. We also performed a review of the literature for reported cases of low-grade and high-grade forms involving adults and children. DLGNTs should no longer be considered only as low-grade tumors affecting pediatric patients. The spectrum of presentations also includes aggressive tumors affecting adults. Further clinical and pathologic data supported by cytogenetic and molecular investigations are mandatory to better characterize DLGNTs. Copyright © 2018 Elsevier Inc. All rights reserved.

Vertebral pneumatocyst. A case report.

PubMed

Laufer, L; Schulman, H; Hertzanu, Y

1996-02-01

This study illustrates intraosseous pneumatocyst of the vertebral body, a benign lesion. To review the incidence and location of this benign lesion during a 1-year period. Intraosseous pneumatocyst is a rare benign condition, commonly seen in iliac bone or sacrum. The etiology of this entity is unclear. Other locations of these lesions are very rare, and only a few isolated cases are reported in the literature. In the last year (1994-1995), vertebral pneumatocyst was incidentally found in four patients who underwent computed tomography examination for presumptive discal lesion. Axial computed tomography with 2- and 4-mm slice thickness was performed. The typical computed tomography patterns of intraosseous pneumatocyst involving the cervical, dorsal, or lumbar spine were found. The bony structure and joints were normal. To the best of our knowledge, intraosseous pneumatocyst located in the spinal process has not been reported. Intraosseous pneumatocyst is a benign lesion. Biopsy and follow-up are unnecessary.

Incisional endometriosis: diagnosed by fine needle aspiration cytology.

PubMed

Veda, P; Srinivasaiah, M

2010-07-01

Incisional endometriosis (IE) is a rare entity reported in 0.03-1.08% of women following obstetric or gynecologic surgeries. Most cases reported in literature have appeared after cesarean sections and were often clinically mistaken for hernia, abscess, suture granuloma or lipoma. We hereby report a case of IE following a second trimester hysterotomy, which was diagnosed by fine needle aspiration cytology (FNAC). Our patient was 26 years old, presenting with a mass over anterior abdominal wall, associated with incapacitating pain during each menstrual cycle. FNAC showed epithelial cells, stromal cells and hemosiderin laden macrophages. Based on the typical history, clinical and cytological features, the diagnosis of IE was established. Wide surgical excision was done and the resulting rectus sheath defect was repaired. Patient was followed for 6 months during which time she was symptom free. This article also reviews the spectrum of cytological features and the rare possibility of malignant transformation that can occur in IE.

Alimentary tract duplications in newborns and children: Diagnostic aspects and the role of laparoscopic treatment

PubMed Central

Patiño Mayer, Jan; Bettolli, Marcos

2014-01-01

Alimentary tract duplications are rare congenital lesions normally diagnosed in newborns and children that can occur anywhere from the mouth to the anus and have a reported incidence of approximately 1 in 4500 life births. Symptoms and clinical presentation vary greatly. The presentation varies according to age and location. The treatment finally is surgical; total resection when possible should be the aim of the intervention. In pediatric surgery minimally invasive surgical procedures became more and more important over the last decades. In consequence the operative procedure on alimentary tract duplications changed in this manner. We review on case reports and clinical reports on minimally invasive surgery in the treatment of alimentary tract duplications, determine the importance of minimally invasive techniques in the treatment of this rare entity and rule out that further studies in the field should be performed. PMID:25339813

Acute Leukemia and Concurrent Mediastinal Germ Cell Tumor: Case Report and Literature Review.

PubMed

Maese, Luke; Li, K David; Xu, Xinjie; Afify, Zeinab; Paxton, Christian N; Putnam, Angelica

2017-04-01

There is a known association of primary nonseminomatous mediastinal germ cell tumors (NSMGCT) and hematologic malignancy in younger males not linked to treatment. When combined these two rare entities convey a very poor prognosis. Here we report a 16-year-old male with an anterior mediastinal mass diagnosed as a malignant germ cell tumor based on elevation of serologic markers. He was found to have acute leukemia with megakaryocytic differentiation several days later. We focus our report on the pathologic findings, including a review of the literature, and a novel molecular analysis of the germ cell tumor.

Paramolar – A supernumerary molar: A case report and an overview

PubMed Central

Nayak, Gurudutt; Shetty, Shashit; Singh, Inderpreet; Pitalia, Deepti

2012-01-01

Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental literature. This article presents a case report of an unusual occurrence of a paramolar in the maxilla in otherwise a healthy individual. In addition, literature review, prevalence, classification, etiology, complications, diagnosis, and therapeutic strategies that may be adopted when supernumeraries occurs have been discussed. PMID:23559961

Pleomorphic Hyalinizing Angiectatic Tumour: A Rare Case Report and Discussion of Differential Diagnosis.

PubMed

Chalmeti, Ambica; Arakeri, Surekha U; Javalgi, Anita P; Goyal, Shefali

2017-08-01

Pleomorphic Hyalinizing Angiectatic Tumour (PHAT) is one of the rare soft tissue tumour which is non-metastasizing. The origin of this tumour is yet uncertain. It occurs in adults as a slow growing subcutaneous mass mimicking clinically and histologically to various benign and malignant soft tissue tumours such as schwannoma, haemangioma and malignant fibrous histiocytoma. The microscopic features of this tumour include clusters of ectatic, fibrin containing, hyalinized blood vessels with pleomorphic and spindle shaped tumour cells showing intranuclear inclusions, stromal haemosiderin pigment and a variable inflammatory infiltrate. Despite marked pleomorphism, the lesion behaves as a low grade neoplasm, with frequent recurrences, but no metastases. The incidence of this tumour is very rare with less than 100 cases being published. Hence, awareness of this entity is must for proper management of the patient and to avoid misdiagnosis of the lesion. We report a case of pleomorphic hyalinizing angiectatic tumour in a 50-year-old man who presented with a slow growing mass in the left calf region since two years.

Solid papillary carcinoma of the breast: A special entity needs to be distinguished from conventional invasive carcinoma avoiding over-treatment.

PubMed

Guo, Shuangping; Wang, Yingmei; Rohr, Joseph; Fan, Chaoliang; Li, Qinglong; Li, Xia; Wang, Zhe

2016-04-01

Solid papillary carcinoma of the breast, a newly-defined entity, is poorly recognized, and its nature and management is still debated. Eleven cases of pure solid papillary breast carcinoma in our archive and 253 cases reported in previous literature were retrospectively analyzed for their clinicopathological features and outcomes. The eleven cases occurred in elderly females. Grossly, all tumors were well-circumscribed and typically composed of solid papillary nodules. The tumor cells were bland-looking with low-grade atypia and mitoses < 5/10HPF. Immunophenotypically, all eleven cases showed positivity for ER and PR, negativity for CK5/6 and HER2, and a low proliferative index of Ki67. Five cases showed scattered positivity for myoepithelial marker p63, and four cases were positive for CK5/6 and CD10 around the nodules, whereas the other cases were completely negative for all myoepithelial markers. Five cases expressed the neuroendocrine marker synaptophysin, and six cases expressed chromogranin. In nine cases, mastectomy and axillary lymph nodes excision were performed, and only one showed micrometastasis in an axillary lymph node. There was no local recurrence or distant metastasis or breast carcinoma related-death during the follow-up periods of 50 months. Out of 253 solid papillary breast carcinomas reported in literature, the percentage of axillary lymph node metastasis was 4/136 (3%), with rare local recurrences and distant metastasis; only three patients died of breast carcinoma. Solid papillary carcinoma of the breast is a rare entity with distinctive clinicopathological features and excellent prognosis and should be distinguished from conventional breast carcinoma to avoid over-treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

Metastatic signet-ring cell cancer of the bladder responding to chemotherapy with capecitabine: case report and review of literature

PubMed Central

Michels, Jorg; Barbour, Sean; Cavers, Douglas; Chi, Kim N.

2010-01-01

Signet-ring cell cancers deriving from the bladder are rare entities and usually present with advanced incurable disease and associated poor outlook. No standard effective chemotherapeutic option has been described largely due to the rarity of this malignancy. We report a case of a patient with metastatic bladder cancer, signet-ring cell variant. The patient progressed rapidly on standard first-line bladder cancer chemotherapy with gemcitabine and carboplatin. He responded well to second-line capecitabine with a clinically meaningful progression-free survival. PMID:20368884

Necrotizing Infundibular Crystalline Folliculitis (NICF) Induced by Anti-Tumoral Therapies: Report of 2 Cases.

PubMed

Fattouh, Kinda; Collet-Benzaquen, Diane; Provensal, Anne M; Desseigne, Françoise; Castillo, Christine; Combemale, Patrick; de la Fouchardière, Arnaud

2017-10-01

Necrotizing Infundibular Crystalline Folliculitis (NICF) is rare entity of unknown pathogenesis presenting as follicular crystalline papules arising in seborrheic areas. We report 2 cases of NICF in patients under targeted therapy for metastatic adenocarcinoma. In one case, the lesions reappeared cyclically every 3 weeks after each injection and in the other case, lesions persisted until disruption of the continuous oral therapy. Punch-biopsies demonstrated folliculitis with a plugging crystalline material associated with either bacteria or yeast. These are the first descriptions of drug-induced NICF.

A rare case of low-solute hyponatremia in a nonalcoholic person.

PubMed

Srisung, Weeraporn; Mankongpaisarnrung, Charoen; Anaele, Cyriacus; Dumrongmongcolgul, Nat; Ahmed, Vaqar

2015-01-01

Low-solute hyponatremia is a relatively uncommon entity of euvolemic hyponatremia. Classic cases were described in alcoholics as beer potomania, which is characterized by hyponatremia in the setting of low-solute intake due to heavy beer drinking. We report a case of low-solute hyponatremia in a nonalcoholic person who was given a solute load, and, subsequently, had excessive diuresis with the resultant rapid increase in serum sodium concentration.

[Aortic and cerebral trombosis caused by hypernatremic dehydration in an exclusively breast-fed infant].

PubMed

Iglesias Fernández, C; Chimenti Camacho, P; Vázquez López, P; Guerrero Soler, M; Blanco Bravo, D

2006-10-01

Complete aortic thrombosis is rare in neonates. Because it carries high morbidity and mortality, this entity requires aggressive and early treatment. This report describes an 8-day-old healthy and exclusively breast-fed infant, without specific coagulopathy, who developed complete aortic and cerebral venous thrombosis, which was attributed to inadequate breast-feeding and severe hypernatremic dehydration. Early systemic anticoagulation and thrombolytic therapy allowed complete resolution of the problem.

Endodontic management of contralateral mandibular first molars with six root canals

PubMed Central

Bhargav, Kambhampati; Sirisha, Kantheti; Jyothi, Mandava; Boddeda, Mohan Rao

2017-01-01

The knowledge of variations in root canal morphology is essential for a successful endodontic outcome. Contralateral mandibular molar with six root canals is a rare entity. Root canal treatment of mandibular molars with aberrant canal configuration can be diagnostically and technically challenging. While dealing with variant mandibular molars, mishaps may happen. This case report describes variations in contralateral mandibular molars and also an endodontic mishap while managing them. PMID:29259369

Extramedullary plasmacytoma in the carotid space: Expanding the differential diagnosis.

PubMed

Deshpande, Sneha Satish; Kane, Shubhada; Arya, Supreeta

2014-10-01

Plasma cell neoplasms have been classified into various types, with a range of clinical and radiological presentations. Extramedullary plasmacytoma (EMP) is a subset of plasma cell neoplasms which presents as an isolated non-osseous soft tissue mass. Though carotid space neoplasms are commonly encountered, EMP in the carotid space is rare and seldom considered in the initial differential diagnosis of a carotid space mass. These tumors can be treated by surgery or radiotherapy. On the other hand, the commonly encountered tumors in the carotid space are treated surgically. Also, it is mandatory to exclude multiple myeloma in the patients presenting with EMP. Hence, accurate and early diagnosis has therapeutic and prognostic implications. We report a rare case of EMP of the carotid space, describing the imaging features and the differential diagnoses with clues pointing to this rare entity.

Primary pleural lymphoma: plaque-like thickening of the pleura.

PubMed

Oikonomou, Anastasia; Giatromanolaki, Alexandra; Margaritis, Dimitrios; Froudarakis, Marios; Prassopoulos, Panos

2010-01-01

Primary pleural lymphoma is a rare entity that has been described in association with human immunodeficiency virus (HIV) infection or pyothorax. We report a 63-year-old-man with no history of HIV infection or pyothorax who presented with progressive dyspnea and nonproductive cough. Chest radiography revealed complete opacification of the left hemithorax, and contrast-enhanced computed tomography showed large left pleural effusion and thin, homogeneous, plaque-like thickening of the parietal pleura. Thoracoscopic pleural biopsy was consistent with grade 1 extranodal follicular lymphoma of the pleura. The authors suggest that physicians should be aware of this rare location of primary pleural lymphoma manifested by plaque-like thickening of the pleura but not accompanied by mediastinal lymphadenopathy.

Scedosporium apiospermum causing otomycosis in an immunocompetent child with tympanostomy tubes: Management of this rare entity.

PubMed

Salamat, A A; Archer, C; Basarab, A; Eren, E; Batty, V; Patel, S; Salib, R J; Burgess, A; Ismail-Koch, H

2015-10-01

Infection following a tympanostomy tube insertion is a common occurrence. Scedosporium apiospermum is a filamentous fungus mainly isolated in water and soil. There have been no reported cases of S. apiospermum infection of an immunocompetent individual with a tympanostomy tube in situ. A child was referred with unilateral otorrhoea failing to respond to conventional treatment in the community. S. apiospermum was identified following specialist testing. An extended course of anti-fungal treatment led to complete resolution. Due to the rare occurrence of aural S. apiospermum and unreported nature, it should be managed in a multidisciplinary setting. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Infrasellar craniopharyngioma of the posterior nasal septum: a rare entity.

PubMed

Chiun, Kian Chai; Tang, Ing Ping; Vikneswaran, Tharumalingam; Nurshaline Pauline, H Kipli

2012-02-01

To report an unusual location of infrasellar craniopharyngioma in a peadiatric patient. A six-year-old boy presented with persistent bilateral nasal obstruction for one year. Clinical examination revealed a posterior choanal mass arising from septum and the finding was confirmed by paranasal sinuses computed tomography scan. He then underwent wide local excision. Histopathological examination confirmed the diagnosis of craniopharyngioma (adamantinomatous type). There were no signs and symptoms of recurrence after a year of followup. Infracranial craniopharyngioma without sellar involvement is extremely rare. Persistent nasal obstruction without endocrine dysfunction is the common presentation. Radiological imaging is important to diagnose and assess the extent. The mainstay of treatment for infrasellar craniopharyngioma is surgery. Regular follow up is mandatory.

Surgical management of necrotizing sialometaplasia of palate.

PubMed

Balaji, S M; Balaji, Preetha

2015-01-01

Necrotizing sialometaplasia (NSM) is a rare benign, inflammatory disease of both major and minor salivary glands, although more commonly reported in the minor glands of the palate. The characteristic clinical presentation can perplex the clinician and may be mistaken for a malignant neoplasm, such as mucoepidermoid carcinoma, as well as invasive squamous cell carcinoma. The clinical and histological similarity between this entity and a malignant lesion may result in unnecessary or mis-treatment. Though clinically mimics malignancy, NSM is considered to be a self-limiting disease, and takes about 3-12 weeks to resolve. Majority of the case resolves itself or by supportive and symptomatic treatment. Surgical intervention is rarely required in NSM except the diagnostic biopsy. Herein we report the clinical, histopathological feature and surgical management of a case of NSM of hard palate in a young adult male.

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in adults-a case report and literature review.

PubMed

Yuan, Junliang; Yang, Shuna; Wang, Shuangkun; Qin, Wei; Yang, Lei; Hu, Wenli

2017-05-25

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is a rare clinico-radiological entity characterized by the magnetic resonance imaging (MRI) finding of a reversible lesion in the corpus callosum, sometimes involved the symmetrical white matters. Many cases of child-onset MERS with various causes have been reported. However, adult-onset MERS is relatively rare. The clinical characteristics and pathophysiologiccal mechanisms of adult-onset MERS are not well understood. We reviewed the literature on adult-onset MERS in order to describe the characteristics of MERS in adults and to provide experiences for clinician. We reported a case of adult-onset MERS with acute urinary retension and performed literature search from PubMed and web of science databases to identify other adult-onset MERS reports from Januarary 2004 to March 2016. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline was followed on selection process. And then we summarized the clinico-radiological features of adult-onset MERS. Twenty-nine adult-onset MERS cases were reviewed from available literature including the case we have. 86.2% of the cases (25/29) were reported in Asia, especially in Japan. Ages varied between 18 and 59 years old with a 12:17 female-to-male ratio. The major cause was infection by virus or bacteria. Fever and headache were the most common clinical manifestation, and acute urinary retention was observed in 6 patients. All patients recovered completely within a month. Adult-onset MERS is an entity with a broad clinico-radiological spectrum because of the various diseases and conditions. There are similar characteristics between MERS in adults and children, also some differences.

Post-traumatic cervical pneumorrhachis--a rare entity.

PubMed

Gill, Maneet; Sreenivas, Mukkamala; Beniwal, Rajveer Singh

2011-02-01

Pneumorrhachis(PR) is a rare phenomenon and post traumatic PR even more so. Presentation can vary from asymptomatic to significant neurological deficit and so the management has to be individualised. We present a case of post-traumatic cervical PR.

CNN-based ranking for biomedical entity normalization.

PubMed

Li, Haodi; Chen, Qingcai; Tang, Buzhou; Wang, Xiaolong; Xu, Hua; Wang, Baohua; Huang, Dong

2017-10-03

Most state-of-the-art biomedical entity normalization systems, such as rule-based systems, merely rely on morphological information of entity mentions, but rarely consider their semantic information. In this paper, we introduce a novel convolutional neural network (CNN) architecture that regards biomedical entity normalization as a ranking problem and benefits from semantic information of biomedical entities. The CNN-based ranking method first generates candidates using handcrafted rules, and then ranks the candidates according to their semantic information modeled by CNN as well as their morphological information. Experiments on two benchmark datasets for biomedical entity normalization show that our proposed CNN-based ranking method outperforms traditional rule-based method with state-of-the-art performance. We propose a CNN architecture that regards biomedical entity normalization as a ranking problem. Comparison results show that semantic information is beneficial to biomedical entity normalization and can be well combined with morphological information in our CNN architecture for further improvement.

Linitis plastica of the bypassed stomach 7 years after Roux-en-Y gastric bypass: a case report.

PubMed

Haenen, Filip Wn; Gys, Ben; Moreels, Tom; Michielsen, Maartje; Gys, Tobie; Lafullarde, Thierry

2017-12-01

Laparoscopic Roux-en-Y gastric bypass (RYGB) is currently the preferred surgical procedure to treat morbid obesity. It has proven its effects on excess weight loss and its positive effect on comorbidities. One of the main issues, however, is the post-operative evaluation of the bypassed gastric remnant. In literature, cancer of the excluded stomach after RYGB is rare. We describe the case of a 52-year-old woman with gastric linitis plastica in the bypassed stomach after Roux-en-Y gastric bypass, diagnosed by means of laparoscopy and Single-Balloon enteroscopy, and it is clinical importance. Linitis plastica of the excluded stomach after RYGB is a very rare entity. This case report shows the importance of long-term post-operative follow-up, and the importance of single-balloon enteroscopy for visualization of the bypassed stomach remnant, when other investigations remain without results. This case report is only the second report of a linitis plastica in the bypassed stomach after Roux-en-Y gastric bypass.

Atypical hydroa vacciniforme-like epstein-barr virus associated T/NK-cell lymphoproliferative disorder.

PubMed

Lee, Hye Young; Baek, Jin Ok; Lee, Jong Rok; Park, Sang Hui; Jeon, In Sang; Roh, Joo Young

2012-12-01

Epstein-Barr virus (EBV)-associated T-cell/natural killer (NK)-cell lymphoproliferative disorders (EBV-T/NK-LPDs) accompany severe chronic active EBV infection (CAEBV) or comprise the CAEBV disease entity. The CAEBV disease entity has the common feature of lymphoproliferation of T or NK cells (primarily), and B cells (rarely), with chronic activation of EBV infection. The disease is rare and seems to be more prevalent in East Asian countries. The CAEBV disease entity encompasses heterogenous disorders, including hydroa vacciniforme (HV), hypersensitivity to mosquito bites, EBV-associated hemophagocytic syndrome, NK/T-cell lymphoma, and NK-cell leukemia. Atypical HV-like eruptions are present on sun-exposed and nonexposed areas with facial edema, fever, and hepatosplenomegaly, unlike classic HV. Recently, it has been suggested that classic HV and atypical HV-like eruptions are variants within the same disease spectrum of EBV-T/NK-LPD. We report a Korean boy with an atypical HV-like eruption and various systemic manifestations, including fever, sore throat, abdominal pain, headaches, seizures, and hematologic abnormalities for 2 years. After the initial mild eruption, which resembled a viral exanthem, ulceronecrotic skin lesions gradually developed and were associated with a high-grade fever and constitutional symptoms. He had a CAEBV infection, which showed a predominant proliferation of NK cells with high EBV DNA levels in the peripheral blood. However, in the skin lesions, there were nonneoplastic CD4 T-cell infiltrations predominantly showing a monoclonal T-cell receptor-γ gene rearrangement and positive EBV in situ hybridization.

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity

PubMed Central

Affirul, C.A.; Qisti, F.N.; Zamri, Z.; Azlanuddin, A.; Hairol, A.O.; Razman, J.

2014-01-01

INTRODUCTION Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. PRESENTATION OF CASE This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. DISCUSSION We discuss the presentations, diagnosis and pathology findings of this rare pathology. CONCLUSION The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. PMID:25462046

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity.

PubMed

Affirul, C A; Qisti, F N; Zamri, Z; Azlanuddin, A; Hairol, A O; Razman, J

2014-01-01

Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. We discuss the presentations, diagnosis and pathology findings of this rare pathology. The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Deshmukh, Hemant; Rathod, Krantikumar; Garg, Ashwin, E-mail: ashwingarg@indiatimes.com

Mycotic pseudoaneurysm of the pulmonary artery that ruptures during necrotizing pneumonia is a rare entity that is often fatal. Traditionally it has been treated with open thoracotomy and resection of both the aneurysm and the lobe in which the aneurysm is located. In this report, we describe the radiological findings and transcatheter coil embolization of a mycotic pulmonary pseudoaneurysm in a 6-month-old female infant. We also describe the subsequent morphologic changes observed on follow-up computed tomography after 9 months of embolization.

Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

PubMed

Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

2014-02-01

Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Repair of an aneurysm of the ascending aorta and arch in an infant with Loeys-Dietz syndrome.

PubMed

Jaiswal, Pratiksha; Shetty, Varun; Patel, Ebrahim; Shetty, Deviprasad

2018-05-01

Aortic aneurysms in childhood are rare disease entities and are usually seen in patients with genetic connective tissue disorders such as Marfans, Ehler-Danlos, and Loeys-Dietz syndrome (LDS). Patients affected with LDS present early in life and have a rapid disease progression. We report a case of repair of an ascending and aortic arch aneurysm in an infant with Loeys-Dietz syndrome. © 2018 Wiley Periodicals, Inc.

Management of hyperparathyroidism (PHP) in MEN2 syndromes in Europe.

PubMed

Alevizaki, Maria

2013-03-14

Hyperparathyroidism occurs in 20-30% of MEN2A syndrome patients. It is usually associated with mild disease and is frequently asymptomatic, especially in younger age. There is genotype/phenotype association and PHP is usually associated with codon 634 mutations; however association with more "rare" mutations has also been reported. The pathology of the parathyroid glands includes hyperplasia, adenoma or a combination of the two. The optimal surgical management of this entity has not been defined yet.

[48,XXYY men with azoospermia: how to manage infertility?].

PubMed

Roche, C; Sonigo, C; Benmiloud-Tandjaoui, N; Boujenah, J; Benzacken, B; Poncelet, C; Hugues, J-N

2014-01-01

48,XXYY syndrome is a rare form of sex chromosomal aneuploidy. Usually considered as a variant of Klinefelter syndrome because of shared features (azoospermia, tall stature, hypergonadotropic hypogonadism), it is a separate entity because diagnostic is currently made in prepubertal boy with neuro-psychological disorders. We here report the case of a 48,XXYY patient consulting for adult infertility and the indication to perform testicular sperm extraction is discussed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Co-occurence of florid cemento-osseous dysplasia and simple bone cyst: a case report.

PubMed

Rao, Kumuda Arvind; Shetty, Shishir Ram; Babu, Subhas G; Castelino, Renita Lorina

2011-01-01

The purpose of this report is to present a rare case of co-occurrence of florid cemento-osseous dysplasia with simple bone cyst in a middle aged Asian woman. Most of the reported cases are isolated cases of simple bone cyst or florid cemento-osseous dysplasia, but co-occurrence of these two entities is extremely rare. The authors report a 41 year old female patient with co-occurrence of mandibular florid cemento-osseous dysplasia with simple bone cyst. A thorough clinical and radiological examination was carried out. It was diagnosed mandibular cyst with possible co-occurrence of florid cemento-osseous dysplasia. Surgical exploration of the multilocular lesion was applied. Since, the patient was symptomatic at the time of presentation utmost caution was taken during the surgical procedure as florid cemento-osseous dysplasia is associated with hypo-vascularity of the affected bone. Based on histopathological, as well as supporting clinico-radiological findings a confirmative diagnosis of florid cemento-osseous dysplasia co-occurring with simple bone cyst was made. Patient was followed-up for a period of six months and was reported to be asymptomatic. Timely diagnosis and well planned treatment is important to obtain a good prognosis when a rare co-occurrence of two or more bone lesions affects the jaws.

Precursor B-cell lymphoblastic lymphoma of oral cavity: A case report with its diagnostic workup

PubMed Central

Talreja, Komal Ladharam; Barpande, Suresh Ramchandra; Bhavthankar, Jyoti Dilip; Mandale, Mandakini S

2016-01-01

Lymphoblastic lymphoma (LBL), seen primarily in children or young adults, is a malignant neoplasia that originates from B or T lymphocyte precursors and rarely occurs in the oral cavity. In this localization, neither the clinical features nor the radiologic appearances are pathognomic and can pose significant diagnostic problems. Histopathologically, it presents as a round blue cell tumor. An early and accurate diagnosis of this entity is very important due to its high cure rate. We report a case of B-cell LBL involving oral cavity in a 10-year-old child. The purpose of this report is to explore the diagnostic workup. PMID:27194876

Stiff-person syndrome: a case report and review of the literature.

PubMed

Egwuonwu, Steve; Chedebeau, Fernando

2010-12-01

We report a case of stiff-person syndrome associated with several autoimmune diseases. A 49-year-old male with type 1 diabetes presented with a 6-month history of muscle rigidity and spasms of his upper and lower extremities. Anti-glutamic acid decarboxylase 65 antibody was elevated at 609 nmol/L. Electromyography revealed continuous motor unit activity in agonist and antagonist muscles. He responded favorably to diazepam, baclofen, and intravenous immunoglobulin infusions. This case report describes stiff-person syndrome in association with pernicious anemia and diabetes mellitus. A review of the literature discusses the diagnosis and treatment of this rare entity.

Left-sided incarcerated Amyand's hernia with cecum and terminal ileum: a case report.

PubMed

Bekele, Kebebe; Markos, Desalegn

2017-01-01

Amyand's hernia, which is the presence of a normal or pathological appendix as a part of an inguinal hernia, is a rare clinical entity. We are reporting a very rare case of left-sided incarcerated Amyand's hernia with cecum and terminal ileum involvement. A 4-year-old male child with left inguinal swelling of 2-year duration presented to Goba Referral Hospital. Two days before the patient visited our hospital, the swelling had become irreducible and caused severe groin pain. He had abdominal cramps, bilious vomiting, and mild abdominal distention, but passed feces. With the diagnosis of left-sided incarcerated inguinal hernia, the patient was investigated and prepared for surgical management. During the operative procedure, we identified the presence of appendix, cecum, and terminal ileum in the scrotum as the herniated component. After the sack was dissected, since there was also appendicitis, an appendectomy was performed. Then, high ligation of sack was done after cecum and ileum were reduced. After 3 uneventful postoperative days in the hospital, the patient was discharged. The patient was followed-up for 6 months, and he did not develop any complications. Left-sided incarcerated Amyand's hernia with cecum and terminal ileum involvement is a rare clinical entity. Even though it is not common, appendicitis is one of the comorbidities that can be seen in patients with left-sided incarcerated Amyand's hernia with cecum and terminal ileum. Surgeons should have a high index of clinical suspicion and be aware of the potential involvement of appendix, cecum, and ileum as part of an incarcerated hernia during surgery, even in the left inguinal region. In this case, left-sided incarcerated inguinal hernia which involved inflamed appendix, cecum, and terminal ileum was successfully managed using an inguinal approach.

Extranasopharyngeal angiofibroma of nasal septum. A controversial entity

PubMed Central

Tasca, I; Ceroni Compadretti, G

2008-01-01

Summary The term extranasopharyngeal angiofibroma has been applied to vascular, fibrous nodules occurring outside the nasopharynx. The maxillary sinus is the most common site involved, while the nasal septum represents an extremely rare localization. Computerized tomography scan and magnetic resonance imaging are used to determine the tumour site and its extension. Surgical excision of the mass is the treatment of choice, and recurrence is rare. Typically, clinical characteristics of extranasopharyngeal angiofibromas do not conform with that of nasopharyngeal angiofibromas and, for this reason, these tumours must be regarded as a separate entity. Due to these different features, extranasopharyngeal angiofibromas can present a diagnostic challenge and a meticulous evaluation with a high index of suspicion is essential in establishing the correct diagnosis and treatment. We report the case of a 57-year-old female with a 1-year history of a slowly progressing right nasal obstruction due to the presence of a whitish mass adhering to the posterior nasal septum. The patient was succesfully treated surgically. Histopathological findings were compatible with a diagnosis of angiofibroma. Extranasopharyngeal angiofibroma must be taken into consideration in the differential diagnosis of nasal vascular tumours and nasal septum should be regarded as a potential, though exceptional, localization of these neoplasms. PMID:19205598

Pulmonary venous thrombosis secondary to radiofrequency ablation of the pulmonary veins.

PubMed

López-Reyes, Raquel; García-Ortega, Alberto; Torrents, Ana; Feced, Laura; Calvillo, Pilar; Libreros-Niño, Eugenia Alejandra; Escrivá-Peiró, Juan; Nauffal, Dolores

2018-01-01

Pulmonary Vein Thrombosis (PVT) is a rare and underdiagnosed entity produced by local mechanical nature mechanisms, vascular torsion or direct injury to the vein. PVT has been described in clinical cases or small multicenter series mainly in relation to pulmonary vein stenosis, metastatic carcinoma, fibrosing mediastinitis, as an early surgical complication of lung transplantation lobectomy and radiofrequency ablation performed in patients with atrial fibrillation, although in some cases the cause is not known. We report the case of a 57 years old male with history of atrial fibrillation treated by radiofrequency ablation who was admitted in our center because of a two-week history of consistent pleuritic pain in the left hemithorax and low-grade hemoptysis and a lung consolidation treated as a pneumonia with antibiotic but not responding to medical therapy. In view of the poor evolution of the patient, computed tomography angiography was performed with findings of PVT and secondary venous infarction and anticoagulation therapy was optimized. At the end, pulmonary resection was performed due to hemorrhagic recurrence. PVT remains a rare complication of radiofrequency ablation and other procedures involving pulmonary veins. Clinical suspicion and early diagnosis is crucial because is a potentially life-threatening entity.

Pancreatic and Gastric Heterotopia with Associated Submucosal Lipoma Presenting as a 7-cm Obstructive Tumor of the Ileum: Resection with Double Balloon Enteroscopy.

PubMed

Jiang, Kun; Stephen, F Otis; Jeong, Daniel; Pimiento, Jose M

2015-01-01

Pancreatic and gastric heterotopias are rare clinical entities which have been identified throughout the entire length of the gastrointestinal tract. Combined gastric and pancreatic heterotopias, although unusual, have been described in the duodenum and jejunum, and in other structures, including Meckel's diverticulum and the ampulla of Vater. We report a novel case of pancreatic and gastric heterotopia with an associated submucosal lipoma in a 38-year-old female with a recent history of rectal cancer and chronic crampy abdominal pain. On computed tomography, a 7-cm luminal polypoid mass extending into the distal ileum was discovered. The mass was successfully resected using retrograde double balloon enteroscopy. We believe this is the first report of all three histological entities co-existing in an obstructive ileal lesion in an adult. It highlights endoscopic resection trough double enteroscopy as a safe alternative to more invasive surgical approaches for this type of lesion.

Primary Mucinous Cystadenocarcinoma of the Breast with Endocervical-Like Mucinous Epithelium

PubMed Central

Lin, Dong-Liang; Hu, Ji-Lin; Shao, Shi-Hong; Sun, Dong-Mei; Wang, Ji-Gang

2013-01-01

Summary Background Primary mucinous cystadenocarcinoma of the breast is an extremely rare entity. To the best of our knowledge, only 17 patients have been described in the PubMed database. Case Report Here, we report a primary breast mucinous cystadenocarcinoma with endocervical-like mucinous epithelium in a 62-year-old woman. The patient was followed for 5 months without any adjuvant treatment and she continues to be disease free. Conclusions Primary breast mucinous cystadenocarcinoma usually displays unique pathologic and immunohistochemical characteristics simulating its ovarian counterparts; it seems to have a good prognosis after complete resection. PMID:24550753

Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature.

PubMed

Iwuagwu, F C; Rigby, H S; Payne, F; Reid, C D

1999-10-01

Juvenile xanthogranuloma is a relatively rare cutaneous lesion. In order to make an early diagnosis and be alert to the possibility of visceral complications and associated medical conditions, plastic surgeons should be aware of the entity. The classic presentation is that of successive eruptions in the head, neck and upper trunk of initially red papules or nodules which later become yellow and finally brown flattened plaques or macules. This report is of an unusual variant with atypical histology including frequent mitoses and a lack of Touton giant cells. Copyright 1999 The British Association of Plastic Surgeons.

Acute ischiofemoral impingement?

PubMed

García, X G; Turmo, A; Cos, M A; Puigdellívol, J; Til, Ll

2018-03-31

We report a case of rare clinical entity, which comes within the spectrum of hip impingements. The case deals with a 36 year old female, Olympic athlete, who developed ischiofemoral impingement 14 months after a surgical hamstring reattachment. She was treated conservatively and fully recovered. When looking into literature on this matter, we found that it is probably an under-diagnosed problem, particularly in patients with no history of prior surgery. To our knowledge, this is the first case reported after a hamstrings tendon reattachment. Copyright © 2018 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

Congenital high airway obstruction syndrome (CHAOS) associated with cervical myelomeningocele.

PubMed

Adin, Mehmet Emin

2017-10-01

Congenital high airway obstruction syndrome (CHAOS) is a rare and potentially fatal entity resulting from complete or near complete developmental airway obstruction. Although most reported cases of CHAOS are sporadic, the condition may also be associated with certain syndromes and a variety of cervical masses. Meningocele and myelomeningocele have not yet been reported in association with CHAOS. We describe the typical constellation of sonographic findings in a case of early diagnosis of CHAOS associated with cervical myelomeningocele. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:507-510, 2017. © 2016 Wiley Periodicals, Inc.

Chlamydial infection preceding the development of rheumatoid arthritis: a brief report.

PubMed

Jolly, Meenakshi; Curran, J J

2004-10-01

Chlamydia trachomatis-triggered reactive arthritis is a well-documented entity that has been extensively described. We do not have a clear understanding about the inflammatory oligoarthritis associated with the presence of this organism. It is rarely cultured from the synovial fluid, but is usually detectable by molecular biological techniques. Typically, Chlamydia trachomatis causes a sterile but inflammatory oligoarthritis. We report an unusual case of inflammatory monoarthritis in a young woman in whom Chlamydia was isolated from the synovial fluid. This is the first case of documented isolation of Chlamydia from synovial fluid, which subsequently was diagnosed as rheumatoid arthritis.

Borderline Brenner tumor of the ovary: a case report with immunohistochemical and molecular study.

PubMed

De Cecio, Rossella; Cantile, Monica; Collina, Francesca; Marra, Laura; Santonastaso, Clemente; Scaffa, Cono; Botti, Gerardo; Losito, Nunzia Simona

2014-10-29

Borderline Brenner tumor of the ovary is a rare entity characterized by papillary structures with a fibro-vascular core, covered by a transitional epithelium, and by the absence of stromal infiltration. It is associated, by definition, with a benign component of Brenner tumor. We report a case of a 68-year-old woman, with a right ovarian mass, whose morphology and immuno-profile were consistent with the diagnosis of a borderline Brenner tumor. Immunohistochemistry carried out on selected markers may help to formulate the diagnosis, more than the molecular analyses.

Twenty-Nail Transverse Melanonychia Induced by Hydroxyurea: Case Report and Review of the Literature.

PubMed

Osemwota, Osamuede; Uhlemann, John; Rubin, Adam

2017-08-01

Twenty-nail transverse melanonychia from hydroxyurea is a rare phenomenon, only reported four times previously. Here we describe a 51-year-old female who presented with 20-nail transverse melanonychia 3 months after initiating hydroxyurea therapy. Transverse melanonychia is a benign process but can cause patients significant distress, and thus is an entity with which dermatologists should recognize. We then review the cutaneous manifestations, differential diagnosis, and clinical considerations when evaluating patients with transverse melanonychia from hydroxyurea or other causes.

J Drugs Dermatol. 2017;16(8):814-815.

Primary Langerhans Cell Histiocytosis of the Vulva: Case Report and Review of the Literature.

PubMed

Zudaire, Tamara; Guarch, Rosa; Valcayo, Ana; García, Kelly; Resano, Miguel Ángel; Requena, Diego; Rodríguez, Mercedes

2017-03-01

Langerhans cell histiocytosis (LCH) of the vulva is rare and even moreso in postmenopausal women. Twenty-six cases of primary vulvar LCH have been described in the current literature, and only 8 cases are in postmenopausal women. We report an additional case of primary vulvar LCH in a 59-yr-old woman with subsequent multiorgan involvement. In this article, we briefly describe the clinical presentation, histopathological findings, and immunohistochemistry results of vulvar LCH. We want to emphasize the importance of recognizing this entity in a woman with vulvar lesions both for the clinician and the pathologist.

Concomitant idiopathic hypertrophic spinal pachymeningitis and Guillain-Barré syndrome in a patient: coincidence or a triggering mechanism?

PubMed

Olubajo, Farouk; Yermakova, Tatyana; Highley, J Robin; Arzoglou, Vasileios

2017-09-01

Idiopathic hypertrophic spinal pachymeningitis (IHSP), a rare diffuse inflammatory thickening of the dura mater, and Guillain-Barré syndrome (GBS) are known entities but they have never been reported as concomitant diagnoses. To their knowledge, the authors present the first reported case in the international literature with supportive evidence for both IHSP (based on MRI, intraoperative, and histological findings) and GBS (based on history, clinical examination, and electrophysiological findings). They review the literature on IHSP and the diagnostic criteria for GBS, with the view of identifying a possible causative connection.

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity

PubMed Central

Koufopoulos, Nektarios; Goudeli, Christina; Syrios, John; Filopoulos, Evangelos; Khaldi, Lubna

2017-01-01

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive. PMID:29081926

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity.

PubMed

Koufopoulos, Nektarios; Goudeli, Christina; Syrios, John; Filopoulos, Evangelos; Khaldi, Lubna

2017-10-03

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive.

Congenital generalized lymphangiectasia: a rare developmental disorder for non-immune fetal hydrops

PubMed Central

Sibre, Verônica; Schultz, Regina; de Melo, Ana Maria Andrello Gonçalves Pereira; Ibidi, Silvia Maria; Torre, Jackeline Della

2015-01-01

Firstly described by Rudolf Virchow in the 19th century, congenital generalized lymphangiectasia is a rare entity characterized by dilation of lymphatic vessels, and was recently classified in primary or secondary lymphangiectasia. Generalized forms may be diagnosed during pre-natal follow-up with ultrasound examination, and, depending on its severity, the newborn outcome is very poor. The authors report the case of a female newborn with a previous diagnosis of fetal hydropsy who was born after a full-term gestation with respiratory failure due to bilateral voluminous pleural effusion and ascites. Physical examination also disclosed syndromic facies. Despite all efforts of the intensive supportive care, the patient died after 24 days of life. The autopsy findings were consistent with the diagnosis of congenital pulmonary lymphangiectasia. The authors call attention to this rare diagnosis in patients with cavitary effusion and respiratory insufficiency at birth. PMID:26894043

Aripiprazole-induced transient myopia: A rare entity.

PubMed

Praveen Kumar, K V; Chiranjeevi, P; Alam, Md Shahid

2018-01-01

Aripiprazole is a new drug for the treatment of adults with schizophrenia. Ocular side effects of aripiprazole are very rare. Review of literature revealed few cases of aripiprazole-induced myopia. We report a rare case of aripiprazole-induced transient myopia. A 22-year-old female patient presented to the department of psychiatry with worsening of symptoms of schizophrenia and was started on aripiprazole. She presented with complaints of blurring of vision in both eyes for 1 week which started on the 3rd day following the use of aripiprazole. Anterior segment examination revealed a shallow anterior chamber and narrow angles. Intraocular pressure was normal. A diagnosis of aripiprazole-induced acute myopia was made and the treating psychiatrist was advised to stop the medication. At 2-week follow-up, the unaided visual acuity improved to 20/20 in both the eyes. Ophthalmologists should be aware of the myopic shift that may occur as an ocular side effect with aripiprazole.

Duodenal perforation: an unusual complication of sickle cell anemia.

PubMed

Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

2014-01-01

Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia.

Duodenal perforation: an unusual complication of sickle cell anemia

PubMed Central

Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

2014-01-01

Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia. PMID:25422692

Spontaneous Intrahepatic Type II Gallbladder Perforation: A Rare Cause of Liver Abscess – Case Report

PubMed Central

Singh, Kumkum; Singh, Amit; Vidyarthi, Shivaji H; Jindal, Satyaprakash; Thounaojam, Chandra Kumar

2013-01-01

A liver abscess formation is a rare complication of a gallbladder perforation, with a cholecystohepatic communication. Niemeier, in 1934, classified free gallbladder perforations and generalised biliary peritonitis as an acute or a Type I gallbladder perforation, a pericholecystic abscess and localised peritonitis as a subacute or a Type II gallbladder perforation, and cholecystoenteric fistulas as chronic or Type III gallbladder perforations. We are describing a 50–year–old male patient who presented with right upper quadrant pain and was found to have an intrahepatic perforation of the gallbladder. Our patient had a Type II perforation. We have discussed the diagnostic work-up and the management of this rare entity. Due to the high mortality that can be caused by a delay in making the correct diagnosis, a gallbladder perforation represents a special diagnostic and surgical challenge. PMID:24179927

Primary telangiectatic osteosarcoma of the cervical spine.

PubMed

Turel, Mazda K; Joseph, Vivek; Singh, Vandita; Moses, Vinu; Rajshekhar, Vedantam

2012-04-01

Telangiectatic osteosarcoma (TOS) is one of the 8 subtypes of osteosarcoma that infrequently affects the spine. The radiopathological features of TOS overlap with those of more benign entities, most commonly the aneurysmal bone cyst), and therefore is a significant diagnostic challenge. It is a rare but well-described entity in the thoracolumbar and sacral spine, and to the authors' knowledge has not been previously reported in the cervical spine. The authors report the case of a 15-year-old boy who presented with a 6-month history of neck pain and torticollis. He underwent preoperative glue embolization followed by a staged subtotal C-5 spondylectomy and posterior fusion for a C-5 vertebral body lytic expansile lesion. Histopathological examination showed the lesion to be TOS. The surgery was followed by adjuvant radiation and chemotherapy with a favorable outcome at the 1-year follow-up. This report reiterates that TOS is an important differential diagnosis for aneurysmal bone cyst and giant-cell tumor of the spine, as its biological behavior and clinical outcome differ from those of these more benign lesions, which it mimics.

Recurrence of inflammatory pseudotumor in the distal bile duct: Lessons learned from a single case and reported cases

PubMed Central

Fernández, EM López-Tomassetti; Luis, H Díaz; Malagón, A Martín; González, I Arteaga; Pallarés, A Carrillo

2006-01-01

Inflammatory myofibroblastic tumors (IMTs) or inflammatory pseudotumors (IPs) have been extensively discussed in the literature. They are usually found in the lung and upper respiratory tract. However, reporting of cases involving the biliopancreatic region has increased over recent years. Immunohistochemical study of these lesions limited to the pancreatic head or distal bile duct seems to be compatible with those observed in a new entity called autoimmune pancreatitis, but usually intense fibrotic reaction (zonation) predominates producing a mass. When this condition is limited to the pancreatic head, the common bile duct might be involved by the inflammatory process and jaundice may occur often resembling adenocarcinoma of the pancreas. We have previously reported a case of IMT arising from the bile duct associated with autoimmune pancreatitis which is an extremely rare entity. Four years after Kaush-Whipple resection, radiological examination on routine follow-up revealed a tumor mass, suggesting local recurrence. Ultrasound-guided FNA confirmed our suspicious diagnosis. This present case, as others, suggests that persistent follow-up is necessary in order to prevent irreversible liver damage at this specific location. PMID:16804988

Blastic plasmacytoid dendritic cell neoplasm: report of two pediatric cases.

PubMed

Dharmani, Preeti Ashok; Mittal, Neha Manish; Subramanian, P G; Galani, Komal; Badrinath, Yajamanam; Amare, Pratibha; Gujral, Sumeet

2015-01-01

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare subtype of acute leukemia that typically follows a highly aggressive clinical course in adults, whereas experience in children with this disease is very limited. We report cases of two children in whom bone marrow showed infiltration by large atypical monocytoid 'blast-like' cells which on immunophenotyping expressed CD4, CD56, HLA-DR and CD33 while were negative for CD34 other T-cell, B-cell and myeloid markers. The differential diagnoses considered were AML, T/NK-cell leukemia and acute undifferentiated leukemia. Additional markers CD303/BDCA-2 and CD123 which are recently validated plasmacytoid dendritic cell markers were done which helped us clinch the diagnosis of this rare neoplasm. An accurate diagnosis of BPDCN is essential in order to provide prompt treatment. Due to its rarity and only recent recognition as a distinct clinicopathological entity, no standardized therapeutic approach has been established for BPDCN.

Solitary fibrous tumor of the breast: A case report and the review of the literature.

PubMed

Salemis, Nikolaos S

2018-01-01

Solitary fibrous tumors (SFT) are rare mesenchymal neoplasms. They were first described as spindle-cell tumors originating from the pleura, but they may arise in any anatomical site. SFT of the breast is an exceedingly rare clinical entity. Our literature review yielded only 21 cases reported so far. We describe a case of a SFT of the breast in a premenopausal patient who presented with a gradually enlarging palpable breast mass. Diagnostic evaluation and management are discussed along with a review of the relevant literature. There are no pathognomonic imaging findings of SFT of the breast. Complete surgical resection with clear margins is the gold standard of treatment. Thorough immunohistochemical analysis is crucial to obtain a definitive diagnosis. Although most SFTs run an indolent course, in some cases the clinical behavior can be unpredictable and a long-term follow-up for all patients is therefore mandatory. © 2017 Wiley Periodicals, Inc.

Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult.

PubMed

Muñoz-Gómez, Sigridh; Cunha, Burke A

2013-08-19

FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet's syndrome, familial Mediterranean fever (FMF), Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA), i.e., adult Still's disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and white blood cell (WBC) count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome.

Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult

PubMed Central

Muñoz-Gómez, Sigridh; Cunha, Burke A.

2013-01-01

FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes Behcet’s syndrome, familial Mediterranean fever (FMF), Hyper IgD syndrome and juvenile rheumatoid arthritis (JRA), i.e., adult Still’s disease. With FAPA syndrome, between episodes patients are completely asymptomatic and serologic inflammatory markers such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and white blood cell (WBC) count are normal. The etiology of FAFA is unknown, but lack of secondary cases or clustering in close contacts, lack of seasonality, and the lack of progression for years argue against an infectious etiology. We describe an extremely rare case of an adult with a recurrent FUO with profuse night sweats and prominent chills due to FAPA syndrome. PMID:26237061

Phrenic Nerve Palsy as Initial Presentation of Large Retrosternal Goitre.

PubMed

Hakeem, Arsheed Hussain; Hakeem, Imtiyaz Hussain; Wani, Fozia Jeelani

2016-12-01

Unilateral phrenic nerve palsy as initial presentation of the retrosternal goitre is extremely rare event. This is a case report of a 57-year-old woman with history of cough and breathlessness of 3 months duration, unaware of the thyroid mass. She had large cervico-mediastinal goiter and chest radiograph revealed raised left sided hemidiaphragm. Chest CT scan did not reveal any lung parenchymal or mediastinal pathology. The patient underwent a total thyroidectomy through a cervical approach. The final pathology was in favor of multinodular goitre. Even after 1 year of follow up, phrenic nerve palsy did not improve indicating permanent damage. Phrenic nerve palsy as initial presentation of the retrosternal goitre is unusual event. This case is reported not only because of the rare nature of presentation, but also to make clinicians aware of the entity so that early intervention may prevent attendant morbidity.

Cytological diagnosis of metastatic glioblastoma in the pleural effusion of a lung transplant patient.

PubMed

Nauen, David W; Li, Qing Kay

2014-07-01

The extracranial metastasis of glioblastoma is a rare event. We report the case of a patient who developed metastatic glioblastoma in pleural effusion 15 months after lung transplant, with emphasis on differential diagnosis based on cytological material. In our case, tumor cells had pleomorphic nuclei, prominent nucleoli, and fine vesicular chromatin. Some were arranged in a poorly formed pseudo-glandular architecture, mimicking a poorly differentiated adenocarcinoma. The cytological diagnosis of metastatic glioblastoma is difficult and depends critically on clinical history and suspicion, particularly in the transplant setting. Review of the literature indicates that transmission/metastasis of intracranial malignancy occurs rarely following organ transplantation, with some debate on the suitability for transplant of organs from affected donors. Although the situation is uncommon, this report of the cytological findings of extracranial glioblastoma may extend our current knowledge and provide additional differential diagnostic information for this entity. © 2013 Wiley Periodicals, Inc.

Paecilomyces variotii peritonitis in a patient on continuous ambulatory peritoneal dialysis.

PubMed

Uzunoglu, E; Sahin, A M

2017-06-01

Paecilomyces variotii (P. variotii) is an extremely rare cause of continuous ambulatory peritoneal dialysis (CAPD) peritonitis. When diagnosed, it usually portends poor prognosis. Patient's survival depends on early laboratory diagnosis and proper treatment. We herein report a P. variotii peritonitis in a patient on CAPD which is a quite rare clinical entity. Laboratory diagnosis was confirmed via both morphological analysis and DNA sequencing. Antifungal susceptibility tests were performed and interpreted according to the Clinical Laboratory Standards Institute M38-A2 guidelines. After laboratory diagnosis, the patient was treated succesfully with liposomal amphotericin B and itraconazole combination and the peritoneal catheter was removed. This case is worthy of reporting since P. variotii is an uncommon cause of peritonitis and leads to dilemmas in both laboratory diagnosis and treatment strategies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Ruling in the diagnosis of methanol intoxication in a young heavy drinker: a case report

PubMed Central

Anyfantakis, D; Symvoulakis, EK; Cristodoulakis, EV; Frantzeskakis, G

2012-01-01

Methanol poisoning is a relatively rare but potentially serious medical emergency. Toxicity results when methanol is successively oxidized to the active metabolites formaldehyde and formic acid. We report a case of a 23-year-old male, a high daily alcohol consumer, who attended the local primary health care centre complaining of sudden visual loss. A presumed diagnosis of methanol intoxication was suggested based on the patient’s visual impairment and the history of alcohol ingestion. Specific therapy was initiated before a definitive diagnosis. Gas chromatographic determination of methanol levels confirmed the initial diagnostic suspicion. In this case, prompt recognition of methanol intoxication and treatment conditioned a favorable clinical outcome. Given that timely diagnosis and antidote administration are crucial issues in terms of prognosis, we underline the necessity for physicians to be alert for entities provoked by rare environmental factors. PMID:23049639

Intracranial meningioma as primary presentation for an undiagnosed collision metastatic breast cancer: Case report and literature review

PubMed Central

Farrag, Ashraf; Ansari, Jawaher; Ali, Muhammad; Sunbuli, Ghanem; Kassem, Hassan; Al Hamad, Abdul-Aziz

2018-01-01

Intracranial metastasis from breast cancer is a relatively common finding, however, the appearance of breast cancer metastasis in a meningioma is very rare. Several cases of tumor-to-tumor metastasis and collision tumors have been reported previously, with meningioma being implicated as the most common benign intracranial neoplasm to harbour the metastasis. Occasionally, the discovery of a tumor-to-meningioma metastasis may herald the diagnosis of an occult primary malignancy. Careful histopathological assessment of the resected meningioma specimen is pivotal to the management of these patients, as this will alter the treatment plan and prognosis considerably. Intracranial meningioma with collision breast cancer as primary presentation of an undiagnosed metastatic breast cancer is extremely rare. The current study presents a case of intracranial meningioma with collision breast cancer as a primary presentation, and reviews the available evidence for this unusual disease entity. PMID:29725531

Intracranial meningioma as primary presentation for an undiagnosed collision metastatic breast cancer: Case report and literature review.

PubMed

Farrag, Ashraf; Ansari, Jawaher; Ali, Muhammad; Sunbuli, Ghanem; Kassem, Hassan; Al Hamad, Abdul-Aziz

2018-05-01

Intracranial metastasis from breast cancer is a relatively common finding, however, the appearance of breast cancer metastasis in a meningioma is very rare. Several cases of tumor-to-tumor metastasis and collision tumors have been reported previously, with meningioma being implicated as the most common benign intracranial neoplasm to harbour the metastasis. Occasionally, the discovery of a tumor-to-meningioma metastasis may herald the diagnosis of an occult primary malignancy. Careful histopathological assessment of the resected meningioma specimen is pivotal to the management of these patients, as this will alter the treatment plan and prognosis considerably. Intracranial meningioma with collision breast cancer as primary presentation of an undiagnosed metastatic breast cancer is extremely rare. The current study presents a case of intracranial meningioma with collision breast cancer as a primary presentation, and reviews the available evidence for this unusual disease entity.

Deep Vein Thrombosis and True Crural Aneurysm: Misdiagnosis or Causal Relation?

PubMed

Floros, Nikolaos; Antoniou, Zoi; Papadakis, Marios

2016-04-01

True crural artery aneurysm is a rare clinical entity. Crural artery aneurysms are most frequently seen in men in their sixth decade without major cardiopulmonary diseases and are often associated with injury, superinfection, or vasculitis. We report the case of a 44-year-old man with a history of idiopathic deep vein thrombosis (DVT) as the first manifestation of a true crural artery aneurysm. To our knowledge, DVT is very rarely related with true crural artery aneurysms, with only 3 cases reported in the current literature. Open surgical repair is the most common management, with ligation as a second option in emergencies such as rupture. The related literature is discussed. We conclude that crural aneurysms should be considered in differential diagnosis of popliteal DVT in adults. True crural aneurysms need vigilance and a more systematical approach to provide physicians the means to the best medical care. Copyright © 2016 Elsevier Inc. All rights reserved.

Spontaneous dissecting aneurysm of the left atrium complicated by cerebral embolism: A report of two cases with review of literature.

PubMed

Mohan, Jagdish C; Shukla, Madhu; Mohan, Vishwas; Sethi, Arvind

2016-09-01

Left atrial dissection is a very uncommon complication of cardiac surgery and usually causes significant hemodynamic compromise. Little is known about spontaneous dissection of the left atrium. Two patients, one middle-aged man and another elderly woman were evaluated following stroke. Routine trans-thoracic echocardiogram showed vertical division of the left atrium with both chambers communicating with each other through an orifice. Detailed trans-oesophageal echocardiographic study revealed dissection of the left atrium producing an additional false chamber (pseudo-aneurysm) placed posterior to the left atrial appendage and above the postero-lateral aspect of mitral annulus. Spontaneous dissection of the left atrium is extremely rare, and there is no report of cerebral embolism associated with it. Review of literature reveals interesting facets of this rare entity. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

Giant Hypopharyngeal Fibrovascular Polyp: A Case Report and Review of the Relevant Literature.

PubMed

Haytoglu, Suheyl; Tuhanioglu, Birgul; Bozkurttan, Abdurrahman; Arikan, Osman Kursat

2015-01-01

Fibrovascular polyps occur most commonly in the cervical esophagus and are extremely rare in the hypopharynx. In this paper, we report a case of fibrovascular polyp of a 52-year-old female, who presented with progressive dysphagia and weight loss and regurgitating a mass from her mouth. By the endoscopic examination, a polyp covered by normal mucosa with a wide stalk was detected at the hypopharynx. The pedicle of the mass was identified under general anesthesia and the 13 × 3 × 2 cm mass was completely resected perorally. Histopathological examination of the tumor showed oedematous subepithelial fibrous stroma, surrounded by squamous epithelium and containing many congested vascular structures. No recurrence was detected over one year of follow-up. This case highlights the need for clinicians to be aware of this rare entity and to develop the best approach to patient management.

Spontaneous and bilateral avascular necrosis of the navicula: Müller-Weiss disease.

PubMed

Aktaş, Erdem; Ayanoğlu, Tacettin; Hatipoğlu, Yasin; Kanatlı, Ulunay

2016-12-01

Although, trauma, foot deformity (pesplanovalgus), systemic diseases such as diabetes mellitus and lupus, drugs (steroids, antineoplastic) and excessive alcohol consumption have all been accused in the etiology of avascular necrosis of the tarsal bones, spontaneous avascular necrosis of the navicular bone, especially in adults, is a rare entity. In this article, we report a 50-year-old female patient with bilateral, spontaneous avascular necrosis of the navicular bone and related severe talonavicular arthrosis. Clinical and radiological findings were concordant with Müller-Weiss disease, which is a rare disease with complex idiopathic foot condition of the adult tarsal navicular bone characterized by progressive navicular fragmentation and talonavicular joint destruction. The patient was successfully treated with two-staged bilateral talonavicular arthrodesis.

Perforated appendix and periappendicular abscess within an inguinal hernia.

PubMed

Salemis, N S; Nisotakis, K; Nazos, K; Stavrinou, P; Tsohataridis, E

2006-12-01

We report an extremely rare case of complicated Amyand's hernia. A 61-year-old male patient was admitted with clinical signs of incarcerated right inguinal hernia and localised tenderness in the right iliac fossa. He underwent emergency surgery and the operative findings included perforated appendix and periappendicular abscess within a right inguinal hernia sac. Appendectomy and Shouldice's herniorrhaphy without prosthetic mesh placement were performed. Histology revealed the presence of a villous adenoma near the base of the appendix. We point out that although Amyand's hernia is a very rare clinical entity, it should always be considered in the differential diagnosis in cases with clinical signs of incarcerated right inguinal hernia, especially when there are no pathological findings on the abdominal X-rays.

PERIVASCULAR EPITHELIOID TUMOURS (PEComas) OF THE GYNAECOLOGICAL TRACT

PubMed Central

Conlon, Niamh; Soslow, Robert A.; Murali, Rajmohan

2016-01-01

Perivascular epithelioid tumour (PEComas) of the gynaecological tract are rare tumours which were first recognised and diagnosed within the last twenty years. They represent a unique diagnostic challenge with regard to their accurate and reproducible distinction from more common entities such as smooth muscle tumours of the uterine corpus. In this review article we trace the development of the concept of the PEComa tumour family, highlight what is known about extra-gynaecological tract PEComa at an immunohistochemical, molecular and therapeutic level and then present a summary of all reported cases of gynaecological tract PEComa to date. In the summary, we highlight rare subtypes of gynaecological tract PEComa, and compare the performances of extant prognostic classification systems for malignancy in these tumours. PMID:25750268

Primarily Proximal Jejunal Stone Causing Enterolith Ileus in a Patient without Evidence of Cholecystoenteric Fistula or Jejunal Diverticulosis.

PubMed

Abtar, Houssam Khodor; Mneimneh, Mostapha; Hammoud, Mazen M; Zaaroura, Ahmed; Papas, Yasmina S

2016-01-01

Stone formation within the intestinal lumen is called enterolith. This stone can encroach into the lumen causing obstruction and surgical emergency. Jejunal obstruction by an enterolith is a very rare entity and often missed preoperatively. To our knowledge, most cases of jejunal obstruction, secondary to stone, were associated with biliary disease (cholecystoenteric fistula), bezoar, jejunal diverticulosis, or foreign body. Hereby we present a rare case report of small bowel obstruction in an elderly man who was diagnosed lately to have primary proximal jejunal obstruction by an enterolith without evidence of a cholecystoenteric fistula or jejunal diverticulosis. This patient underwent laparotomy, enterotomy with stone extraction, and subsequent primary repair of the bowel.

Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor

PubMed Central

İnce, Volkan; Barut, Bora; Karakaş, Serdar

2016-01-01

Idiopathic cecal ulcer or solitary cecal ulcer is a rare entity that can only be diagnosed by histopathological evaluation. Generally, it is diagnosed by histolopathological evaluation of biopsy specimens obtained by colonoscopy that is performed for lower gastrointestinal bleeding. It can also be diagnosed after surgical resection performed for acute abdomen or cecal mass mimicking malignancy. Cecal carcinoid tumor is a rare cause of this condition; however, coexistence of cecal ulcer and appendix carcinoid tumor has not been previously reported. In this case, we present a 73-year-old woman who clinically presented as acute appendicitis with cecal wall thickening, underwent right hemicolectomy and was subsequently diagnosed with cecal ulcer, serosal abscess and coexisting appendix carcinoid tumor. PMID:28149127

[Congenital sensorineural deafness and associated syndromes].

PubMed

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

Granulomatous slack skin: a rare subtype of mycosis fungoides.

PubMed

Motta, Letícia Marra da; Soares, Cleverson Teixeira; Nakandakari, Sadamitsu; Silva, Gardênia Viana da; Nigro, Maria Helena Mazzi Freire; Brandão, Leticia Stella Gardini

2017-01-01

We report a case of granulomatous slack skin, a rare and indolent subtype of mycosis fungoides. It affects mainly men between the third and fourth decades. It is characterized by hardened and erithematous plaques that mainly affect flexural areas and become pedunculated after some years. Histological examination shows a dense infiltrate of small atypical lymphocytes involving the dermis (and sometimes the subcutaneous tissue) associated with histiocytic and multinucleated giant cells containing lymphocytes and elastic fibers (lymphophagocytosis and elastophagocytosis, respectively). Patients affected by this entity can develop secondary lymphomas. There are several but little effective therapeutic modalities described. Despite the indolent behavior of granulomatous slack skin, its early recognition and continuous monitoring by a dermatologist becomes essential for its management and prevention of an unfavorable outcome.

Intraosseous calcium migration in calcifying tendinitis: a rare cause of single sclerotic injury in the humeral head (2010: 2b).

PubMed

Martin, S; Rapariz, J M

2010-05-01

Intratendinous deposits of hydroxyapatite crystals are very common, particularly in the rotator cuff. In rare cases, the calcium located in the thickness of the supraspinatus tendon can suffer intraosseous migration into the greater tuberosity. We present a case of this rare entity: a 28-year-old patient who attended with pain and functional weakness in the left shoulder. The plain radiograph showed a sclerotic lesion in the greater tuberosity of the humeral head with a radiolucent halo. The MRI showed a lytic lesion containing the calcium inside and associated with an extensive pattern of oedema of the accompanying bone marrow. A plain radiograph taken 6 months before showed a calcifying tendinitis in the thickness of the supraspinatus tendon. A large number of entities can present as single sclerotic lesions of the humeral head. The diagnostic key lies in the existence of the calcifying tendinitis in the earlier study. The treatment of this disease consists of surgical removal of the calcium. The recognition of this entity is important to avoid unnecessary complementary tests and aggressive surgery, given that the surgical treatment is curative and leads to disappearance of the symptoms.

Pleomorphic Hyalinizing Angiectatic Tumour: A Rare Case Report and Discussion of Differential Diagnosis

PubMed Central

Arakeri, Surekha U; Javalgi, Anita P; Goyal, Shefali

2017-01-01

Pleomorphic Hyalinizing Angiectatic Tumour (PHAT) is one of the rare soft tissue tumour which is non-metastasizing. The origin of this tumour is yet uncertain. It occurs in adults as a slow growing subcutaneous mass mimicking clinically and histologically to various benign and malignant soft tissue tumours such as schwannoma, haemangioma and malignant fibrous histiocytoma. The microscopic features of this tumour include clusters of ectatic, fibrin containing, hyalinized blood vessels with pleomorphic and spindle shaped tumour cells showing intranuclear inclusions, stromal haemosiderin pigment and a variable inflammatory infiltrate. Despite marked pleomorphism, the lesion behaves as a low grade neoplasm, with frequent recurrences, but no metastases. The incidence of this tumour is very rare with less than 100 cases being published. Hence, awareness of this entity is must for proper management of the patient and to avoid misdiagnosis of the lesion. We report a case of pleomorphic hyalinizing angiectatic tumour in a 50-year-old man who presented with a slow growing mass in the left calf region since two years. PMID:28969147

Embryonal tumor with abundant neuropil and true rosettes: an autopsy case-based update and review of the literature.

PubMed

Adamek, Dariusz; Sofowora, Kolawole D; Cwiklinska, Magdalena; Herman-Sucharska, Izabela; Kwiatkowski, Stanislaw

2013-05-01

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare subtype of primitive neuroectodermal tumors first reported in 2000. It is rare among the group of embryonal central nervous system tumors with approximately 50 reported cases. ETANTR has been suggested to be a separate entity among this group of tumors. Herein, we present only the second autopsy case of ETANTR, which occurred in a 17-month-old boy, and was located in the brainstem. The tumor was inoperable, and despite chemotherapy, the child died 3 months after initial hospitalization. A brain only autopsy was performed. Neuropathological and neuroimaging examinations suggest ETANTR grew by expansion rather than invasion distorting anatomical structures of the posterior fossa. We suggest that the characteristic histopathological picture of the tumor is the result of multifocal and dispersed germinative activity surrounded by mature neuropil-like areas. ETANTR is a pediatric tumor occurring in children under 4 with a significantly poor prognosis with more cases and research required to characterize this rare embryonal tumor.

TAMOXIFEN RETINOPATHY DURING TREATMENT OF AN INOPERABLE DESMOID TUMOR.

PubMed

Furst, Meredith; Somogyi, Marie B; Wong, Robert W; Araujo, Dejka; Harper, Clio A

2017-12-08

To evaluate the clinical significance and rarity of tamoxifen retinopathy after a long-term tamoxifen treatment for an inoperable desmoid tumor. Case report. Tamoxifen retinopathy is a condition rarely observed in clinical practice. Although tamoxifen is typically a treatment for breast cancer patients, we present a 68-year-old woman taking tamoxifen for an inoperable desmoid tumor, an equally rare condition. She presented with bilaterally deteriorating vision over the course of a year. Fundoscopic examination revealed parafoveal deposits bilaterally. Spectral domain optical coherence tomography exhibited hyperreflective deposits in all layers of the retina. She had a cumulative treatment dose of 292 g of tamoxifen, and the medication was subsequently stopped. Her vision remained stable 3 months after the cessation of tamoxifen. The development of tamoxifen retinopathy in the treatment of a desmoid tumor makes this case a rare entity, and this is the first reported case of these two concomitant conditions to our knowledge. With the use of long-term tamoxifen as a primary treatment, we recommend screening at regular intervals by an ophthalmologist as an integral part of treatment.

Mucinous cystadenoma of the appendix presenting as an umbilical hernia: A case report.

PubMed

Ren, Bingbing; Meng, Xiangchao; Cao, Z I; Guo, Chunli; Zhang, Zili

2016-06-01

Mucinous cystadenoma of the appendix is a rare condition that develops as a result of proliferation of mucin-secreting cells in an occluded appendix. Mucinous cystadenoma of the appendix presenting as an umbilical hernia is a rare clinical entity. The most common causes of this condition are known to be ascites, hepatitis and cirrhosis; however, the patient in the present study, was diagnosed as hepatitis- and cirrhosis-negative, with no history of chronic coughing or constipation. The aim of the present study was to report a rare case of mucinous cystadenoma of the appendix presenting as an umbilical hernia in a 66-year-old female patient. The patient had a 6-month history of a reducible mass in the umbilical region and was diagnosed with umbilical hernia. Computed tomography and ultrasonography were performed and revealed massive ascites. Ultimately, a laparoscopic appendectomy was performed and borderline mucinous appendiceal cystadenoma of low malignant potential was confirmed. In addition, the present study discussed the association between mucinous cystadenoma of the appendix and umbilical hernia, as well as the diagnostic process and treatment strategies.

Mucinous cystadenoma of the appendix presenting as an umbilical hernia: A case report

PubMed Central

REN, BINGBING; MENG, XIANGCHAO; CAO, ZI; GUO, CHUNLI; ZHANG, ZILI

2016-01-01

Mucinous cystadenoma of the appendix is a rare condition that develops as a result of proliferation of mucin-secreting cells in an occluded appendix. Mucinous cystadenoma of the appendix presenting as an umbilical hernia is a rare clinical entity. The most common causes of this condition are known to be ascites, hepatitis and cirrhosis; however, the patient in the present study, was diagnosed as hepatitis- and cirrhosis-negative, with no history of chronic coughing or constipation. The aim of the present study was to report a rare case of mucinous cystadenoma of the appendix presenting as an umbilical hernia in a 66-year-old female patient. The patient had a 6-month history of a reducible mass in the umbilical region and was diagnosed with umbilical hernia. Computed tomography and ultrasonography were performed and revealed massive ascites. Ultimately, a laparoscopic appendectomy was performed and borderline mucinous appendiceal cystadenoma of low malignant potential was confirmed. In addition, the present study discussed the association between mucinous cystadenoma of the appendix and umbilical hernia, as well as the diagnostic process and treatment strategies. PMID:27313766

A Case of Atrophia Maculosa Varioliformis Cutis

PubMed Central

Kim, Dong Hyun; Lee, Seung Min; Kim, Tae Yoon

2008-01-01

Atrophia maculosa varioliformis cutis is a rare disease that was first described by Heidingsfeld in 1918. It is characterized by an idiopathic, non-inflammatory macular atrophy that typically occurs on the face in young individuals. Despite its association with some diseases, the etiopathogenesis of this entity remains unknown. After consideration of the differential diagnosis criteria for idiopathic atrophic conditions, we report a case for a 40-year-old Korean male whose past medical history was suggestive of atrophia maculosa varioliformis cutis. PMID:27303204

A Case of Atrophia Maculosa Varioliformis Cutis.

PubMed

Kim, Dong Hyun; Lee, Seung Min; Kim, Tae Yoon; Yoon, Moon Soo

2008-12-01

Atrophia maculosa varioliformis cutis is a rare disease that was first described by Heidingsfeld in 1918. It is characterized by an idiopathic, non-inflammatory macular atrophy that typically occurs on the face in young individuals. Despite its association with some diseases, the etiopathogenesis of this entity remains unknown. After consideration of the differential diagnosis criteria for idiopathic atrophic conditions, we report a case for a 40-year-old Korean male whose past medical history was suggestive of atrophia maculosa varioliformis cutis.

Nijmegen breakage syndrome.

PubMed Central

van der Burgt, I; Chrzanowska, K H; Smeets, D; Weemaes, C

1996-01-01

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT. Images PMID:8929954

[Isolated sternal tuberculosis in immunocompétent adult].

PubMed

Feki, W; Ketata, W; Mkaouar, N; Charfi, S; Moussa, N; Yangui, I; Kammoun, S

2018-04-01

Isolated sternal tuberculosis is a rarely described entity even in countries where tuberculosis is endemic. We report the case of 25 old years patient who presented with a chest wall mass. Imaging concluded to a (ring-enhancing hypodense soft tissue mass surrounding the sternum with sternal fracture). Malignancy was eliminated by a core needle biopsy. We noted clinical and radiological recovery with medical tuberculosis treatment. Neoplastic origin was removed by biopsy and anatomopathological study of the lesion. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Further delineation of the odonto-onycho-dermal dysplasia syndrome.

PubMed

Mégarbané, Hala; Haddad, May; Delague, Valérie; Renoux, Julien; Boehm, Nelly; Mégarbané, André

2004-08-30

We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features. Copyright 2004 Wiley-Liss, Inc.

Facial diplegia: a clinical dilemma.

PubMed

Chakrabarti, Debaprasad; Roy, Mukut; Bhattacharyya, Amrit K

2013-06-01

Bilateral facial paralysis is a rare clinical entity and presents as a diagnostic challenge. Unlike its unilateral counterpart facial diplegia is seldom secondary to Bell's palsy. Occurring at a frequency of 0.3% to 2% of all facial palsies it often indicates ominous medical conditions. Guillian-Barre syndrome needs to be considered as a differential in all given cases of facial diplegia where timely treatment would be rewarding. Here a case of bilateral facial palsy due to Guillian-Barre syndrome with atypical presentation is reported.

Abdominal elephantiasis: a case report.

PubMed

Hanna, Dominique; Cloutier, Richard; Lapointe, Roch; Desgagné, Antoine

2004-01-01

Elephantiasis is a well-known condition in dermatology usually affecting the legs and external genitalia. It is characterized by chronic inflammation and obstruction of the lymphatic channels and by hypertrophy of the skin and subcutaneous tissues. The etiology is either idiopathic or caused by a variety of conditions such as chronic filarial disease, leprosy, leishmaniasis, and chronic recurrent cellulites. Elephantiasis of the abdominal wall is very rare. A complete review of the English and French literature showed only two cases reported in 1966 and 1973, respectively. We report a third case of abdominal elephantiasis and we briefly review this entity. We present the case of a 51-year-old woman who had progressively developed an enormous pediculated abdominal mass hanging down her knees. The skin was thickened, hyperpigmented, and fissured. She had a history of multiple abdominal cellulites. She underwent an abdominal lipectomy. Histopathology of the specimen confirmed the diagnosis of abdominal elephantiasis. Abdominal elephantiasis is a rare disease that represents end-stage failure of lymph drainage. Lipectomy should be considered in the management of this condition.

A giant dumbbell shaped vesico-prostatic urethral calculus: a case report and review of literature.

PubMed

Prabhuswamy, Vinod Kumar; Tiwari, Rahul; Krishnamoorthy, Ramakrishnan

2013-01-01

Calculi in the urethra are an uncommon entity. Giant calculi in prostatic urethra are extremely rare. The decision about treatment strategy of calculi depends upon the size, shape, and position of the calculus and the status of the urethra. If the stone is large and immovable, it may be extracted via the perineal or the suprapubic approach. In most of the previous reported cases, giant calculi were extracted via the transvesical approach and external urethrotomy. A 38-year-old male patient presented with complaints of lower urinary tract symptoms. Further investigations showed a giant urethral calculus secondary to stricture of bulbo-membranous part of the urethra. Surgical removal of calculus was done via transvesical approach. Two calculi were found and extracted. One was a huge dumbbell calculus and the other was a smaller round calculus. This case was reported because of the rare size and the dumbbell nature of the stone. Giant urethral calculi are better managed by open surgery.

A Giant Dumbbell Shaped Vesico-Prostatic Urethral Calculus: A Case Report and Review of Literature

PubMed Central

Prabhuswamy, Vinod Kumar; Tiwari, Rahul; Krishnamoorthy, Ramakrishnan

2013-01-01

Calculi in the urethra are an uncommon entity. Giant calculi in prostatic urethra are extremely rare. The decision about treatment strategy of calculi depends upon the size, shape, and position of the calculus and the status of the urethra. If the stone is large and immovable, it may be extracted via the perineal or the suprapubic approach. In most of the previous reported cases, giant calculi were extracted via the transvesical approach and external urethrotomy. A 38-year-old male patient presented with complaints of lower urinary tract symptoms. Further investigations showed a giant urethral calculus secondary to stricture of bulbo-membranous part of the urethra. Surgical removal of calculus was done via transvesical approach. Two calculi were found and extracted. One was a huge dumbbell calculus and the other was a smaller round calculus. This case was reported because of the rare size and the dumbbell nature of the stone. Giant urethral calculi are better managed by open surgery. PMID:23762742

Thoracic spinal cord intramedullary aspergillus invasion and abscess.

PubMed

McCaslin, Addason F; Lall, Rishi R; Wong, Albert P; Lall, Rohan R; Sugrue, Patrick A; Koski, Tyler R

2015-02-01

Invasive central nervous system aspergillosis is a rare form of fungal infection that presents most commonly in immunocompromised individuals. There have been multiple previous reports of aspergillus vertebral osteomyelitis and spinal epidural aspergillus abscess; however to our knowledge there are no reports of intramedullary aspergillus infection. We present a 19-year-old woman with active acute lymphoblastic leukemia who presented with several weeks of fevers and bilateral lower extremity weakness. She was found to have an intramedullary aspergillus abscess at T12-L1 resulting from adjacent vertebral osteomyelitis and underwent surgical debridement with ultra-sound guided aspiration and aggressive intravenous voriconazole therapy. To our knowledge this is the first reported case of spinal aspergillosis invading the intramedullary cavity. Though rare, this entity should be included in the differential for immunocompromised patients presenting with fevers and neurologic deficit. Early recognition with aggressive neurosurgical intervention and antifungal therapy may improve outcomes in future cases. Copyright © 2014 Elsevier Ltd. All rights reserved.

Anal Canal Gas Gangrene in Aplastic Anaemia: Rare yet Lethal Entity - A Caveat.

PubMed

Sudharsanan, Sundaramurthi; Vijayakumar, Chellappa; Manish, Kumar; Elamurugan, T P; Manwar, Ali S

2017-07-13

Gas gangrene is one of the most serious infections of traumatic and surgical wounds. The importance lies in the fact that, if not managed at the right time, the condition is fatal. Though perianal cellulitis and gangrene are commonly reported in immunocompromised patients, we report the case of a patient with gas gangrene involving only the anal canal extending to the rectum, a rare presentation to be reported in literature.  An 18-year-old lady, a patient of aplastic anaemia - immunodeficiency, developed gas gangrene of the anal canal possibly due to faecal contamination of anal fissures. The patient was managed with surgical debridement and intravenous antibiotics.  The clinical manifestations of gas gangrene are due to the liberation of toxins by Clostridium perfringens. The infection spreads rapidly and results in necrosis and devitalisation of tissues, unless intervened surgically. The clinical manifestations are more rapid and a high index of suspicion is needed for the diagnosis.

Anal Canal Gas Gangrene in Aplastic Anaemia: Rare yet Lethal Entity - A Caveat

PubMed Central

Sudharsanan, Sundaramurthi; Vijayakumar, Chellappa; Manish, Kumar; Elamurugan, TP

2017-01-01

Gas gangrene is one of the most serious infections of traumatic and surgical wounds. The importance lies in the fact that, if not managed at the right time, the condition is fatal. Though perianal cellulitis and gangrene are commonly reported in immunocompromised patients, we report the case of a patient with gas gangrene involving only the anal canal extending to the rectum, a rare presentation to be reported in literature.  An 18-year-old lady, a patient of aplastic anaemia - immunodeficiency, developed gas gangrene of the anal canal possibly due to faecal contamination of anal fissures. The patient was managed with surgical debridement and intravenous antibiotics.  The clinical manifestations of gas gangrene are due to the liberation of toxins by Clostridium perfringens. The infection spreads rapidly and results in necrosis and devitalisation of tissues, unless intervened surgically. The clinical manifestations are more rapid and a high index of suspicion is needed for the diagnosis. PMID:28936381

Incisional Endometriosis: Diagnosed by Fine Needle Aspiration Cytology

PubMed Central

Veda, P; Srinivasaiah, M

2010-01-01

Incisional endometriosis (IE) is a rare entity reported in 0.03–1.08% of women following obstetric or gynecologic surgeries. Most cases reported in literature have appeared after cesarean sections and were often clinically mistaken for hernia, abscess, suture granuloma or lipoma. We hereby report a case of IE following a second trimester hysterotomy, which was diagnosed by fine needle aspiration cytology (FNAC). Our patient was 26 years old, presenting with a mass over anterior abdominal wall, associated with incapacitating pain during each menstrual cycle. FNAC showed epithelial cells, stromal cells and hemosiderin laden macrophages. Based on the typical history, clinical and cytological features, the diagnosis of IE was established. Wide surgical excision was done and the resulting rectus sheath defect was repaired. Patient was followed for 6 months during which time she was symptom free. This article also reviews the spectrum of cytological features and the rare possibility of malignant transformation that can occur in IE. PMID:21346911

Knee Locking in Osteoarthritis due to Synovial Lipoma: A Case Report

PubMed Central

S. Amarjit, Kataria; Budhiraja, Shivali; Chandramouleeswari, K.; Anita, S.

2013-01-01

Intra–articular synovial lipomas are very rare and only few cases have been reported till now. We are reporting a rare case of a unilateral intra–articular lipoma of osteoarthritic knee joint in a 62 years old male. Patient had two episodes of sudden locking of knee joint, which resolved spontaneously. A plain X-ray showed changes which were suggestive of osteoarthritis. Clinically, patient was diagnosed as a case of loose bodies in left knee joint. An arthrotomy was performed. After a Histopathological Examination (HPE) of loose bodies, a diagnosis of an intra–articular synovial lipoma was made. Due to wide differentials and varied clinical behaviour of loose bodies, lipoma should be included in differential diagnosis of osteroarthritic patients who complain of episodic locking of knees. Intraarticular lipomas, on arthroscopic guided excision, get cured permanently, with no recurrence. The differentiation of an intra-articular lipoma from a relatively more common entity, Lipoma arborescens, has also been discussed. PMID:24086885

Granulomatous Mastitis in a Transgender Patient

PubMed Central

Sam, Kenny Q; Severs, Frederick J; Ebuoma, Lilian O; Chandandeep, Nagi S; Sedgwick, Emily L

2017-01-01

Granulomatous mastitis is a rare and benign inflammatory condition of the breast most commonly affecting women of child-bearing age as well as patients on oral contraceptives. This condition is important to identify due to its diagnostic mimicry of malicious entities such as breast carcinoma. Clinical and radiological findings are nonspecific and may overlap with breast carcinomas, thus pathologic confirmation is often necessary for definitive diagnosis. Although cases of granulomatous mastitis have been described in cisgender females, there have been no reported cases in the transgender patient, a growing patient population with few imaging guidelines. Transgender patients are at risk of developing this breast entity due to the use of long-term hormone treatments or presence of residual breast tissue. A trial of antibiotics or steroids may be administered. However, surgical treatment is often necessary in recurrent or refractory cases. PMID:28580069

Multinodular and Vacuolating Neuronal Tumor: A Rare Seizure-associated Entity.

PubMed

Cathcart, Sahara J; Klug, Jeffrey R; Helvey, Jason T; L White, Matthew; Gard, Andrew P; McComb, Rodney D

2017-07-01

Multinodular and vacuolating neuronal tumor is a recently described seizure-associated entity with overlapping features of a malformative and neoplastic process. We report a case of multinodular and vacuolating neuronal tumor in a 29-year-old man with a history of recent headaches and complex partial seizures. Neuroimaging revealed a nonenhancing, T2 and T2 fluid-attenuated inversion recovery hyperintense multinodular lesion in the right temporal lobe. Lesional tissue demonstrated well-demarcated nodules of ganglioid cells with vacuolation of both the perikarya and the fibrillary neuropil-like background. The ganglioid cells showed weak cytoplasmic reactivity for synaptophysin and were nonreactive for neurofilament and chromogranin. CD34-positive stellate cells were present within the nodules. A 50-gene next-generation sequencing panel did not identify any somatic mutations in genomic DNA extracted from the tumor.

Thoracoscopic treatment of congenital esophageal stenosis in combination with H-type tracheoesophageal fistula.

PubMed

van Poll, Daan; van der Zee, David C

2012-08-01

Congenital esophageal stenosis combined with H-type tracheoesophageal fistula is a rare clinical entity that is often not diagnosed until months or sometimes many years after birth. We present a case of a boy who presented both these entities and was treated by thoracoscopy. Copyright © 2012 Elsevier Inc. All rights reserved.

Pediatric Type Follicular Lymphoma: A Rare Entity with Excellent Prognosis

DTIC Science & Technology

2018-01-19

lymphomas, has a median age range of 7.5-11.7, and has a male- female ratio of 4:1. This entity occurs most frequently in the tonsils and head and... neck lymph nodes. The pathogenesis of follicular lymphoma in adults is based upon immunoglobulin gene rearrangements with BCL2, BCL6, and MYC

[Xanthoma disseminatum with asymptomatic multisystem involvement].

PubMed

Zinoun, M; Hali, F; Marnissi, F; Lazaar, S; Benchikhi, H

2015-04-01

Xanthogranulomas belong to non-Langerhans histiocytosis of the second group in the Histiocyte Society classification. They comprise a heterogeneous group of rare entities frequently involving cutaneous tropism. Xanthoma disseminatum belongs to this group of non-Langerhans histiocytosis. We report a case of xanthoma disseminatum (XD) in which localized skin and mucous impairment revealed multisystem involvement. A 28-year-old man presented with a two-year history of progressive yellow-orange and infiltrated xanthomatous papulonodular lesions of the face. Lesions of the oral mucosa and genital region were seen, with no functional repercussions. No ophthalmic or other complications were found. Histopathology showed a dense histiocytic infiltrate within the dermis with Touton giant cells, foamy multinucleated giant cells and inflammatory cells, without necrobiosis. Histiocytes were positive for CD68 but negative for CD1a. Gastric and lung involvement was seen and was confirmed at histology. Bone scintigraphy showed suspicious left ulnar hyperfixation suggesting bone involvement. No monoclonal gammopathy or diabetes insipidus was seen. Our patient was treated with corticosteroids 1mg/kg/day and thalidomide 100 mg/day. The outcome was marked by regression and exfiltration of the cutaneous lesions from the second week of treatment, with subsidence continuing at 3 months. This case involves a very rare form of xanthoma disseminatum. The localized facial skin lesions revealed multifocal non-Langerhans histiocytosis that was in fact asymptomatic. The diagnosis of XD was based on clinical, histological and immunohistochemical criteria. Xanthoma disseminatum is a non-Langerhans histiocytic proliferation first described by Montgomery in 1938. This rare entity is characterized by skin and mucous membrane xanthomatosis in which the facial involvement is common, together with diabetes insipidus and normal lipid metabolism. The prognosis is determined by the presence of mucosal xanthomas and visceral involvement. Thus, all xanthogranulomas involving multiple lesions warrant screening for visceral involvement. Diagnosis of this entity can be difficult and is usually based on clinical and histopathological findings. In addition, treatment is complex and non-consensual. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Ischemic Gastritis: A Multicenter Case Series of a Rare Clinical Entity and a Review of the Literature.

PubMed

Elwir, Saleh; Shaukat, Aasma; Mesa, Hector; Colbach, Christine; Dambowy, Paul; Shaw, Michael

2016-10-01

To report a case series of ischemic gastritis and discuss its etiology, management, and associated mortality according to our results and the published English literature. Ischemic gastritis is rare, given the rich blood supply of the stomach. It has been reported in isolated case reports and small case series. Most cases are vascular in origin and associated with a high mortality. Pathology databases from 3 hospitals affiliated with the University of Minnesota Medical School were searched for cases of ischemic gastritis in the last 10 years. Patients' demographics, clinical course, and 1-month and 1-year mortalities were collected from electronic medical records. A total of 12 patients were identified (age range, 32.1 to 83.2), the largest series reported to date. The presenting symptom was gastrointestinal bleeding (8), abdominal pain (2), nausea (1), and symptomatic anemia (1). The etiology included postinterventional radiology embolization (2), hemodynamic changes in the setting of celiac axis stenosis (2), vasculitis (1), systemic hypotension (1), and unknown (6). Treatment included steroid therapy, revascularization by interventional radiology, surgery, or supportive treatment. Thirty-day and 1-year mortalities were 33% and 41%, respectively. Ischemic gastritis is rare, but associated with a high mortality. Evaluation for treatable etiologies should be sought and corrected if present.

Severe dysautonomia as a main feature of anti-GAD encephalitis: Report of a paediatric case and literature review.

PubMed

Ben Achour, Nedia; Ben Younes, Thouraya; Rebai, Ibtihel; Ben Ahmed, Melika; Kraoua, Ichraf; Ben Youssef-Turki, Ilhem

2018-05-01

Anti-glutamic acid decarboxylase (anti-GAD65) antibodies are a rare cause of autoimmune encephalitis. This entity is mainly recognized in adults and very few cases were reported in children. We report on a paediatric case of anti-GAD encephalitis with severe presentation and uncontrollable dysautonomia. A 9-year-old girl was referred to our department for refractory seizures and behavioral disturbances. Brain magnetic resonance imaging (MRI) was normal. Repeat screening for antineuronal antibodies showed negative results for anti-NMDA receptor antibodies but positive results for anti-GAD65 with a low positivity of anti-Ma2 antibodies. Although a transient improvement was noticed after immunomodulatory treatment, the patient developed severe intractable autonomic imbalance including dysrythmia, alternating bradycardia/tachycardia, hypotension/hypertension, hypothermia/hyperthermia and hyperhidrosis. She deceased six months after onset. Our report intends to raise awareness of autoimmune encephalitis with anti-GAD65 antibodies which may involve extralimbic brain regions and manifest with fatal dysautonomia. We highlight the need for prompt diagnosis and aggressive management for this underdiagnosed entity in children. Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

[Isolated splenic metastases from cervical cancer: a rare entity].

PubMed

Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Montañez-Lugo, Juan Ignacio; Chávez-González, Bruno

2014-01-01

Splenic metastases from solid tumors are a rare event with an incidence of only 2.9% to 9%. Splenic metastases from cervical cancer are a rare entity. Only a few cases have been reported of isolated spleen metastases from cervical cancer. We present the case of a 76-year-old woman with moderately differentiated endocervical adenocarcinoma stromal and endocervical invasion. Clinical stage was Ib1 and Ca-125 values of 150 U. She was managed with hysterectomy and pelvic lymphadenectomy. She received pelvic radiotherapy (45 Gy) followed 24 Gy of brachytherapy. Two years later she presented with abdominal pain. Abdominal computed tomography showed two splenic parenchymal lesions without disease in the remainder of the abdominal cavity and chest with a Ca-125 of 2,733 U. The patient is submitted to splenectomy. Histopathology demonstrates splenic metastases of well-differentiated adenocarcinoma from the endocervix. Immunohistochemical stain showed positivity from carcinoembryonic antigen; estrogen and progesterone receptors are negative. Ca-125 level 8 weeks after surgery was 16 U/ml. The patient received six cycles of adjuvant chemotherapy with paclitaxel and cisplatin. At 12 months follow-up the patient is alive and without evidence of tumor activity. The spleen is an uncommon site of metastasis. Splenectomy is considered the appropriate treatment in order to avoid complications such as splenic rupture and splenic vein thrombosis as well as to improve pain control from splenomegaly. Twelve months after surgery our patient is alive and without evidence of tumor activity.

Simultaneous or Early Sequential Rupture of Multiple Intracranial Aneurysms: A Rare and Insufficiently Understood Entity.

PubMed

Hou, Kun; Zhao, Jinchuan; Zhang, Yang; Zhu, Xiaobo; Zhao, Yan; Li, Guichen

2016-05-01

Simultaneous or early sequential rupture of multiple intracranial aneurysms (MIAs) is encountered rarely, with no more than 10 cases having been reported. As a result of its rarity, there are a lot of questions concerning this entity need to be answered. A 67-year-old woman was admitted to the First Hospital of Jilin University (Eastern Division) from a local hospital after a sudden onset of severe headache, nausea, and vomiting. Head computed tomography (CT) at the local hospital revealed diffuse subarachnoid hemorrhage (SAH) that was concentrated predominately in the suprasellar cistern and interhemispheric fissure. During her transfer to our hospital, she experienced another episode of sudden headache. CT on admission to our hospital revealed that the SAH was increased with 2 isolated hematomas both in the interhemispheric fissure and the left paramedian frontal lobe. Further CT angiography and intraoperative findings were in favor of early sequential rupture of 2 intracranial aneurysms. To further elucidate the characteristics, mechanism, management, and prognosis of this specific entity, we conducted a comprehensive review of the literature. The mechanism of simultaneous or early sequential rupture of MIAs is still obscure. Transient elevation of blood pressure might play a role in the process, and preventing the sudden elevation of blood pressure might be beneficial for patients with aneurysmal SAH and MIAs. The management of simultaneously or early sequentially ruptured aneurysms is more complex for its difficulty in responsible aneurysm determination, urgency in treatment, toughness in intraoperative manipulation and poorness in prognosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Acute esophageal necrosis and liver pathology, a rare combination

PubMed Central

Khan, Amir Maqbul; Hundal, Rangit; Ramaswamy, Vijaya; Korsten, Mark; Dhuper, Sunil

2004-01-01

Acute esophageal necrosis (AEN) or “black esophagus” is a clinical condition found at endoscopy. It is a rare entity the exact etiology of which remains unknown. We describe a case of ‘black esophagus’, first of its kind, in the setting of liver cirrhosis and hepatic encephalopathy. PMID:15285044

Dwarfism, occult spinal dysraphism, and presacral myxopapillary ependymoma with an epidermoid cyst in a child.

PubMed

Tubbs, R S; Kelly, D R; Mroczek-Musulman, E C; Braune, K; Reddy, A; Georgeson, K; Grabb, P A; Oakes, W J

2005-03-01

The authors present a case of a child with dwarfism that was noted to be developmentally delayed. Imaging revealed atlantoaxial instability, occult spinal dysraphism, and a presacral mass. Histopathology of the presacral lesion was that of a myxopapillary ependymoma with epidermoid cyst. We believe this to be the first report in the extant medical literature of this constellation of findings in the same patient. However, there are rare reports indicating a possible association of occult spinal dysraphism and the simultaneous occurrence of spinal ependymomas. Further case reports are necessary to discern whether these pathological entities are true low rate associations that the clinician should consider in their evaluation of these patients.

Metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract. Management and literature review.

PubMed

Salemis, Nikolaos S; Seretis, Charalambos; Seretis, Fotios; Christofyllakis, Charalambos; Karalis, Georgios

2014-01-01

Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1% of patients with extremity soft tissue sarcoma and in 4.5% of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis. Herein, we have described a rare case of metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract that developed 14 months after the resection of a myxoid buttock liposarcoma. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that multifocal myxoid liposarcoma is a rare clinical entity that usually represents metastatic disease with poor prognosis. A thorough imaging and careful physical examination are essential in the preoperative evaluation and postoperative follow-up of patients with myxoid extremity liposarcomas, as these tumors are known to have a tendency to spread toward extrapulmonary sites, frequently without pulmonary metastases.

Metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract. Management and literature review

PubMed Central

Salemis, Nikolaos S.; Seretis, Charalambos; Seretis, Fotios; Christofyllakis, Charalambos; Karalis, Georgios

2014-01-01

Multifocal soft tissue sarcoma is a rare clinical entity occurring in 1% of patients with extremity soft tissue sarcoma and in 4.5% of patients with liposarcoma. Multifocal disease may arise either synchronously or metachronously and has been associated with poor prognosis. Herein, we have described a rare case of metachronous multifocal myxoid liposarcoma involving the gastrointestinal tract that developed 14 months after the resection of a myxoid buttock liposarcoma. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that multifocal myxoid liposarcoma is a rare clinical entity that usually represents metastatic disease with poor prognosis. A thorough imaging and careful physical examination are essential in the preoperative evaluation and postoperative follow-up of patients with myxoid extremity liposarcomas, as these tumors are known to have a tendency to spread toward extrapulmonary sites, frequently without pulmonary metastases. PMID:24678225

[Angiolymphoid hyperplasia with eosinophilia with bilateral involvement of the lacrimal glands].

PubMed

Baráková, Drahomíra; Sâch, Josef; Kuchynka, Pavel; Rêdinová, Magdalena; Kocur, Ivo

2002-05-01

Angiolymphoid hyperplasia with eosinophilia (ALHE) and Kimura's disease are two rarely occurring disorders very similar to each other; however, they are individual nosological entities. For a long time they were considered as a single disease due to the frequency of similar characteristics. The majority of authors have recently considered these diseases as two individual entities with some reciprocal specifications, both clinical as well as morphological. We report on the case of a 76-year old male white European who had suffered for more than six years from subcutaneous tumour formations in different parts of the body. Eyelid oedema on the right side with palpable resistance under the upper temporal edge of the orbit initially occurred five years after the first symptoms of the disease. A similar finding occurred on the left side after eight months. The tumours on both sides were surgically removed and sent for histological analysis. A unilateral recurrence of the finding appeared after one year, followed by surgical intervention and histological examination. Tumour infiltrate in the first two orbita excisions was topically related to lacrimal gland structures; these structures were not found in the third excision. The case was histologically diagnosed as ALHE despite some similar characteristics with Kimura's disease. The diagnosis of ALHE was histologically supported, especially by the absence of lymphatic follicle formations and fibrotisation in the infiltrate, and the identification of the appearance of epitheloid up to histiocytoid of proliferating endothelium, which forms small lumens. The diagnosis of ALHE was additionally supported by the fact that the incidence of Kimura's disease in white Europeans is very rare. According to our findings, both entities overlap one another, even in some characteristics considered to be distinguishing. The question arises, therefore, whether the strict separation of these nosological entities can indeed be determined with one hundred percent accuracy.

Epithelioid malignant mesothelioma metastatic to the skin: A case report and review of the literature.

PubMed

Ward, Rachel Elizabeth; Ali, Stefanie Ann; Kuhar, Matthew

2017-12-01

Malignant mesothelioma (MM) is an aggressive and invasive neoplasm primarily affecting the pleura, peritoneum and pericardium. While mesothelioma commonly metastasizes to visceral organs, it has rarely been documented to involve the skin and subcutaneous tissue. There is a paucity of reports of cutaneous metastatic mesothelioma, and histologic examination is often challenging because the tumor closely mimics other primary and metastatic neoplasms. We report a case of a 75-year-old man presenting with a firm, hard nodule on his upper back, which on initial histologic evaluation resembled metastatic adenocarcinoma. However, upon review of his medical history and immunohistochemical evaluation of the lesion, the diagnosis of epithelioid MM metastatic to the skin was rendered. The purpose of this case report and review of the literature is to summarize the most effective available immunostains to aid in the diagnosis of this challenging entity, highlight the histologic similarities between metastatic epithelioid MM and other primary and metastatic neoplasms of the skin, and provide prognostic information for these rare tumors. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Tuberculous Otitis Media Leading to Sequentialib Bilateral Facial Nerve Paralysis

PubMed Central

Gupta, Nitin; Dass, Arjun; Goel, Neha; Tiwari, Sandeep

2015-01-01

Introduction: Tuberculous otitis media (TOM) is an uncommon, insidious, and frequently misdiagnosed form of tuberculosis (TB). In particular, TOM is usually secondary to direct transmission from adjacent organs, while the primary form has been rarely reported. The main aim of treatment is to start the patient on an antitubercular regime and early surgical intervention to decompress the facial nerve if involved. Case Report: The case report of a twenty year-old male with bilateral tuberculous otitis media, who presented himself with fever followed by sequential bilateral facial nerve paralysis, bilateral profound hearing loss, and abdominal tuberculosis leading to intestinal perforation, is presented. To the best available knowledge and after researching literature, no such case depicting the extensive otological complications of tuberculosis has been reported till date. Conclusion: Tuberculosis of the ear is a rare entity and in most cases the clinical features resemble that of chronic otitis media. The diagnosis is often delayed due to varied clinical presentations and this can lead to irreversible complications. Early diagnosis is essential for prompt administration of antitubercular therapy and to prevent complications. PMID:26082906

Schwannoma-like tumor in the anterior cranial fossa immunonegative for Leu7 but immunopositive for Schwann/2E.

PubMed

Bohoun, Christian Aïssè; Terakawa, Yuzo; Goto, Takeo; Tanaka, Sayaka; Kuwae, Yuko; Ohsawa, Masahiko; Morisako, Hiroki; Nakajo, Kosuke; Sato, Hidetoshi; Ohata, Kenji; Yokoo, Hideaki

2017-06-01

Schwannoma arising from the olfactory system, often called olfactory groove schwannoma (OGS), is rare, as the olfactory bulb and tract, belonging to the central nervous system, should lack Schwann cells. Another rare entity called olfactory ensheathing cell tumor (OECT) has been reported, which mimics clinical and radiological characteristics of OGS. Here, we report two rare cases of schwannoma-like tumor in the anterior cranial fossa that showed negative staining for Leu7, but positive staining for Schwann/2E, and discuss their origin. Two cases of mass lesions in the anterior cranial fossa in a 26-year-old man and a 24-year-old woman were successfully removed. Morphological examination of these tumors was compatible with a diagnosis of schwannoma. Immunohistochemically, both cases were negative for Leu7, yielding a diagnosis of OECT, but were positive for the schwannoma-specific marker, Schwann/2E. Immunohistochemical staining results in our two cases question the current assumption that OGS and OECT can be distinguished only by Leu7 staining pattern. In conclusion, the origins of OGS and OECT remain to be determined, and further studies in larger numbers of cases are needed to characterize these rare tumors in the anterior cranial fossa. © 2016 Japanese Society of Neuropathology.

[Thoracic endometriosis complicated with pneumopericard and iterative pneumothorax due to bullous dystrophy].

PubMed

Kienlen, A; Fernandez, C; Henni-Laleg, Z; Andre, M; Gazaille, V; Coolen-Allou, N

2018-04-01

Thoracic endometriosis is a rare entity characterized by presence of endometrial tissue in pleura, lung parenchyma or airways. Most frequent manifestations are catamenial pneumothorax, hemothorax, hemoptysis and pulmonary nodules. We report here a rare case of a woman with thoracic endometriosis who developed iterative pneumothorax and pneumopericardium on bilateral bullous pulmonary dystrophy. She was a 37-year-old woman without any tobacco exposure and with previous history of pleural tuberculosis treated 5 years earlier. She was first referred to our centre for right pleuro-pneumothorax and hemorrhagic ascites. Pleural fluid examinations did not show any tuberculosis relapse, the evolution was favorable after thoracic drainage and there was no parenchymal lung abnormality on CT scan after surgery. Celioscopic peritoneal examination revealed stage IV peritoneal endometriosis. One year later, she was admitted for left catamenial pneumothorax. Thoracic CT scan showed apparition of large subpleural bulla. She underwent thoracotomy for bulla resection and left partial pleurectomy. Two years later, she was hospitalized for right pneumothorax and compressive pneumopericardium. Surgical lung biopsies confirmed pleuropulmonary endometriosis. Thoracotomy was performed for talcage pleurodesis and diaphragmatic leakages sutures. Lung bulla are rare in thoracic endometriosis, mechanism of their formation remains unknown. Pericardial involvement is rare in endometriosis; we report here a unique case of pneumopericardium. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Hypertriglyceridemia thalassemia syndrome.

PubMed

Jain, Mili; Ali, Wahid; Singh, Brijendra Bahadur; Verma, Nishant; Kumar, Ashutosh

2018-06-14

Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

Congenital rickets presenting as refractory respiratory distress at birth.

PubMed

Tiwari, Soumya; Kumar, Rajesh; Singla, Shilpy; Dudeja, Ajay; Nangia, Sushma; Saili, Arvind

2014-08-01

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

Colonic histoplasmosis in acquired immunodeficiency syndrome. Report of two cases.

PubMed

Graham, B D; McKinsey, D S; Driks, M R; Smith, D L

1991-02-01

Colonic histoplasmosis is a rare entity. There have been four previous reported cases within the population of patients with human immunodeficiency virus (HIV) infection. Because of the increasing incidence of HIV infection within regions where histoplasmosis is endemic, this condition may become more common. Gastrointestinal histoplasmosis has protean clinical manifestations, and symptoms are often nonspecific. Any patient with HIV infection who has unexplained GI symptoms should undergo evaluation for possible histoplasmosis. Aggressive long-term amphotericin B therapy has been effective in HIV patients with histoplasmosis. Resection or diversion of symptomatic colonic strictures caused by histoplasmosis may be necessary in addition to medical therapy.

Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction

PubMed Central

Samuk, Inbal; Levitt, Marc; Dlugy, Elena; Kravarusic, Dragan; Ben-Meir, David; Rajz, Gustavo; Konen, Osnat; Freud, Enrique

2015-01-01

Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved. The purpose of this report is to present the pathology, assessment, and management strategy of this complex case. PMID:28018799

Solitary Splenic Metastasis After Surgically-treated Cervical Cancer - A Case Report and Literature Review.

PubMed

Bacalbasa, Nicolae; Balescu, Irina; Marcu, Madalina; Oprescu, Dana Nuti; Anca, Alexandru Florin

2017-05-01

Solitary metastases after surgically-treated cervical cancer are a rare entity, with only few cases described so far. We present the case of a 31-year-old patient diagnosed with a tumoral splenic lesion at 18 months after surgically-treated cervical cancer. The patient was submitted to surgery, with a splenectomy being performed. The histopathological studies confirmed the presence of a squamous cell cervical cancer splenic metastasis. At one year follow-up after splenectomy, the patient is free of any recurrent disease. Solitary splenic metastases after surgically-treated cervical cancer are rarely seen; however, this diagnostic should not be omitted whenever a medical history of cervical cancer is present. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Prosthetic management of posttraumatic external auditory canal atresia: A rare cause of conductive hearing loss

PubMed Central

Adhershitha, A. R.; Anilkumar, S.; Rajesh, C.; Mohan, Deepak C.

2016-01-01

Acquired external auditory canal (EAC) atresia is an infrequent entity which can originate from a number of different causes including trauma, infection, neoplasia, inflammation, and radiotherapy. Posttraumatic atresias are exceptionally rare, only 10% of atresias are attributed to trauma in most of the series. The management of stenosis of the EAC is challenging as it is associated with residual hearing loss and late recurrence. Traditional stents often occlude the EAC, resulting in a temporary conductive hearing loss. This case report describes the technique of fabrication of a wide-bored acrylic stent which attained additional retention from the folds of the auricle. The customized earmold stent effectively prevented restenosis, while the large bore provided ventilation and improved hearing subjectively during the stenting period. PMID:27746605

Nodular Fasciitis of the Breast Previously Misdiagnosed as Breast Carcinoma

PubMed Central

Ozben, Volkan; Aydogan, Fatih; Karaca, Fatih Can; Ilvan, Sennur; Uras, Cihan

2009-01-01

Summary Background Nodular fasciitis of the breast is a rare benign pathology that can mimic breast cancer clinically, radiologically, and histopathologically. Case Report An 18-year-old female patient had first visited a physician in a different center with the complaint of a lump in her left breast. Breast examination had revealed a palpable mass located in the left upper outer quadrant. Ultrasonography had demonstrated a hypoechoic lesion. Excisional biopsy of the lump had been performed and histopathologic examination misdiagnosed this lump as a mesenchymal tumor. The patient was then referred to our clinic for further investigations. Pathologic revision was performed and the diagnosis of nodular fasciitis of the breast was established. Conclusion Awareness of this rare clinical entity, nodular fasciitis, in the breast eliminates the misdiagnosis of breast cancer. PMID:20877676

Successful conservative management of symptomatic bilateral dorsal patellar defects presenting with cartilage involvement and bone marrow edema: MRI findings.

PubMed

Kwee, Thomas C; Sonneveld, Heleen; Nix, Maarten

2016-05-01

The dorsal patellar defect is a relatively rare entity that involves the superolateral quadrant of the patella. It is usually considered to represent a delayed ossification process, although its exact origin remains unclear. Because of its usually innocuous nature and clinical course, invasive interventions are generally deemed unnecessary, although curretage has been successfully performed on symptomatic cases. This case report presents a rather unusual case of symptomatic bilateral dorsal patellar defects with cartilage involvement and widespread surrounding bone marrow edema as demonstrated by magnetic resonance imaging (MRI). Both cartilage involvement and bone marrow edema should be considered part of the spectrum of associated MRI findings that can be encountered in this entity. Furthermore, the presented case shows that symptomatic dorsal patellar defects can be treated conservatively with success and that (decrease of) pain symptoms are likely related to (decrease of) bone marrow edema.

Endofibrosis of Iliac Arteries in High-Performance Athletes: Diagnostic Approach and Minimally Invasive Endovascular Treatment

DOE Office of Scientific and Technical Information (OSTI.GOV)

Giannoukas, Athanasios D., E-mail: agiannoukas@hotmail.com; Berczi, Viktor; Anoop, Unnikrishnan

The aim of this article is to report our experience in the diagnosis of two cases of iliac artery endofibrosis or arteriopathy, a rare entity occurring in high-performance athletes, presenting with intermittent claudication (right-sided in both) after maximal exercise. External iliac artery endofibrosis or arteriopathy is a likely diagnosis in competitive athletes free of cardiovascular risk factors who present with leg claudication. Arteriography and a papaverine-assisted mean pressure gradient across the iliac arteries of more than 10 mmHg is a useful diagnostic approach. Moreover, balloon angioplasty of the iliac artery in that patient, in whom a pressure gradient was detected,more » resulted in symptomatic relief for 2 months followed by mild symptom recurrence. Thus, although balloon angioplasty is feasible and safe, it might not be adequate to treat this entity and, thus, its value remains undefined.« less

Persistent L5 lumbosacral radiculopathy caused by lumbosacral trunk schwannoma

PubMed Central

Sharifi, Guive; Jahanbakhshi, Amin

2017-01-01

Schwannomais, usually, benign tumor of nerve sheath that occurs evenly along the spinal cord. Intra-pelvic schwannoma is very rare entity that may arise from lumbosacral nerve roots or from sciatic nerve. Radicular pain of the lower limb as a presenting symptom of pelvic schwannoma is extremely rare. In the current report, the patient is presented with a right sided L5 radicular pain typical of lumbar discopathy. Interestingly, a herniated lumbar disc was noted on lumbosacral magnetic resonance imaging (MRI). In pre-operative studies a large pelvic mass was detected in the right pre-sacral area with solid and cystic components consistent with schwannoma. The patient underwent a low midline laparotomy to evacuate the retroperitoneal mass. Uniquely, we found the tumor to be arisen from lumbosacral trunk not from a root or peripheral nerve. Most cases with intra-pelvic schwannoma present so late with vague abdominal and pelvic discomfort or pain, low back pain, urinary and bowel symptoms because of compressive effect of the tumor, or incidentally following gynecologic work-ups; So, these patients are mostly referred to gynecologists and urologists. A neurosurgeon should have a high degree of suspicion to diagnose such an entity among his or her patients presented with pains typical for discopathy. PMID:28413533

Abdominal cocoon secondary to disseminated tuberculosis

PubMed Central

Puppala, Radha; Sripathi, Smiti; Kadavigere, Rajagopal; Koteshwar, Prakashini; Singh, Jyoti

2014-01-01

Abdominal cocoon, also known as sclerosing encapsulating peritonitis, represents a rare entity where a variable length of the small bowel is enveloped by a fibrocollagenous membrane giving the appearance of a cocoon. It may be asymptomatic and is often diagnosed incidentally at laparotomy. We present a rare case of abdominal cocoon due to abdominal tuberculosis. PMID:25239980

Sleeve fracture of the adult patella: Case report and review of the literature.

PubMed

Xie, Linjun; Xu, Hong; Zhang, Lizhi; Xu, Rong; Guo, Yingkun

2017-08-01

The patellar fractures are common in adults, but rare in children. As a particular type of patellar fracture, however, sleeve fractures are almost always limited to children in the under 16's group. Herein, we report a rare case of a 19-year-old healthy adult female who presented sleeve fracture at the superior pole of the left patella. The clinical and radiological features are found including joint effusion, anterior tilt of the patella and a shell of bone lying proximally to the patella. Computed tomography and magnetic resonance imaging examination have been performed to further confirm the diagnosis of sleeve fracture, rupture of the quadriceps tendon and the cartilaginous injury. Under general anaesthesia, she underwent open surgical procedures for reconstituting anatomically the fracture and repairing the rupture of the quadriceps tendon. Six months after the operation, she could fully use her left knee without any pain and disability. Sleeve fractures of the patellar in adults are extremely rare, and our case is of interest for the first time occurring in healthy female adults. Our case report and literature review was aim to describe the clinic and imaging characteristics of superior pole sleeve fractures in adults, and highlight that physicians must be aware of this entity in adults so as to reduce misdiagnosis due to unfamiliarity.

Pituitary abscess: a case report and review of the literature

PubMed Central

Karagiannis, Apostolos K A; Dimitropoulou, Fotini; Papatheodorou, Athanasios; Lyra, Stavroula; Seretis, Andreas

2016-01-01

Summary Pituitary abscess is a rare life-threating entity that is usually misdiagnosed as a pituitary tumor with a definite diagnosis only made postoperatively. Over the last several decades, advances in healthcare have led to a significant decrease in morbidity and mortality due to pituitary abscess. We report a case of a 34-year-old woman who was admitted to our department for investigation of a pituitary mass and with symptoms of pituitary dysfunction, headaches and impaired vision. During her admission, she developed meningitis-like symptoms and was treated with antibiotics. She eventually underwent transsphenoidal surgery for excision of the pituitary mass. A significant amount of pus was evident intraoperatively; however, no pathogen was isolated. Six months later, the patient was well and had full recovery of the anterior pituitary function. Her menses returned, and she was only on treatment with desmopressin for diabetes insipidus that developed postoperatively. Learning points Pituitary abscess is a rare disease and the reported clinical features vary mimicking other pituitary lesions. The diagnosis of pituitary abscess is often very difficult to make and rarely included in the differential. The histological findings of acute inflammatory infiltration confirm the diagnosis of pituitary abscess. Medical and surgical treatment is usually recommended upon diagnosis of a pituitary abscess. PMID:27274845

Spinal bone marrow necrosis with vertebral compression fracture: differentiation of BMN from AVN.

PubMed

Nix, J S; Fitzgerald, R T; Samant, R S; Harrison, M; Angtuaco, E J

2014-09-01

Bone marrow necrosis (BMN) is a rare malignancy-associated hematologic disorder characterized by necrosis of myeloid and stromal marrow elements with preservation of cortical bone. Overlap between the imaging appearances of BMN and avascular necrosis (AVN) raises the potential for diagnostic confusion. We report a case of BMN presenting with a traumatic multi-level vertebral body collapse, and finding that may potentially confound distinction between the two entities. We discuss important pathophysiologic, clinical, and radiologic differences between BMN and AVN with emphasis on features important in the differential diagnosis.

Coinfections in Intensive Care Unit with pulmonary tuberculosis and mucormycosis: A clinical dilemma.

PubMed

Dube, Pratibha; Saroa, Richa; Palta, Sanjeev

2016-03-01

Herein, we present the case report of an adult male diabetic patient who had coinfection with Mycobacterium tuberculosis and mucormycosis, which otherwise is a rare clinical entity. Diabetes mellitus may predispose a patient to tuberculosis (TB) infection which further weakens immune system thus making him susceptible to other fungal or bacterial infections which may pose various treatment difficulties. Therefore, there is a need for mycological and bacteriological investigations in patients with pulmonary TB to rule out secondary coinfections thus contributing to better management.

Primary mucinous cystadenocarcinoma of the breast with endocervical-like mucinous epithelium.

PubMed

Lin, Dong-Liang; Hu, Ji-Lin; Shao, Shi-Hong; Sun, Dong-Mei; Wang, Ji-Gang

2013-12-01

Primary mucinous cystadenocarcinoma of the breast is an extremely rare entity. To the best of our knowledge, only 17 patients have been described in the PubMed database. Here, we report a primary breast mucinous cystadenocarcinoma with endocervical-like mucinous epithelium in a 62-year-old woman. The patient was followed for 5 months without any adjuvant treatment and she continues to be disease free. Primary breast mucinous cystadenocarcinoma usually displays unique pathologic and immunohistochemical characteristics simulating its ovarian counterparts; it seems to have a good prognosis after complete resection.

Breast hematoma complicating anticoagulant therapy: management and literature review.

PubMed

Salemis, Nikolaos S

2012-01-01

Anticoagulant-induced spontaneous breast hematoma is a very rare clinical entity with only a few cases reported in the literature so far. We describe a case of a spontaneous breast hematoma in a female patient under combined oral anticoagulant and antiplatelet therapy. Physicians should be aware of this possibility in patients under anticoagulant treatment presenting with sudden onset of breast pain and a palpable mass. Repeat imaging is mandatory until complete clinical and imaging resolution of the hematoma. If an abnormality persists, further investigation is needed to exclude an underlying malignancy.

Primary hyperparathyroidism associated with a giant cell tumor: One case in the distal radius.

PubMed

Ouzaa, M R; Bennis, A; Iken, M; Abouzzahir, A; Boussouga, M; Jaafar, A

2015-10-01

Hyperparathyroidism can present itself as brown tumors (or osteolytic expansive lesions) that usually disappear after normalization of calcium and phosphate levels. It rarely occurs simultaneously with a giant cell tumor. The authors report one case of a localized form at the distal radius in a patient being followed for primary hyperparathyroidism. The diagnostic challenges related to the clinical and radiological similarities of these two pathological entities are discussed, as they can lead to delays in therapeutic management. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Intramedullary Abscess by Staphylococcus aureus Presenting as Cauda Equina Syndrome to the Emergency Department

PubMed Central

Jumeau, Helene; Lens, François-Xavier

2016-01-01

Cauda equina syndrome (CES) is a rare entity presenting with low back pain, unilateral or bilateral sciatica, motor weakness of lower extremities, sensory disturbance in the perineal area, and urinary and/or faecal incontinence. Those symptoms are secondary to compression of the cauda equina. If not recognized, CES can lead to irreversible disabilities. We report the case of a 77-year-old lady who presented to the emergency department with a ten-day history of back pain as well as urinary incontinence. PMID:27293918

Intramedullary Abscess by Staphylococcus aureus Presenting as Cauda Equina Syndrome to the Emergency Department.

PubMed

Damaskos, Dimitrios; Jumeau, Helene; Lens, François-Xavier; Lechien, Philippe

2016-01-01

Cauda equina syndrome (CES) is a rare entity presenting with low back pain, unilateral or bilateral sciatica, motor weakness of lower extremities, sensory disturbance in the perineal area, and urinary and/or faecal incontinence. Those symptoms are secondary to compression of the cauda equina. If not recognized, CES can lead to irreversible disabilities. We report the case of a 77-year-old lady who presented to the emergency department with a ten-day history of back pain as well as urinary incontinence.

Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction.

PubMed

Mettler, John; Al-Katib, Sayf

2018-06-07

Renal angiomyolipoma (AML) is the most commonly encountered mesenchymal tumor of the kidney which can present spontaneously or in association with tuberous sclerosis complex. Rarely, renal AMLs may demonstrate aggressive features such as renal vein invasion. This common entity and its uncommon complications are diagnosed based on physical examination and computed tomography results. Here we report imaging findings of a renal AML with renal vein and inferior vena cava invasion resulting in pulmonary tumor embolus and pulmonary infarction. Copyright © 2018. Published by Elsevier Inc.

Radiologic Findings in Gabapentin-Induced Myositis.

PubMed

Coupal, Tyler Michael; Chang, David Ross; Pennycooke, Kevin; Ouellette, Hugue Alcide; Munk, Peter Loren

2017-04-01

Throughout recent years, Gabapentin has become increasingly used for the treatment of neuropathic pain. We report on a case of a 31 year old female who presented to the emergency department with unilateral leg pain, weakness, and swelling after increasingly titrating her Gabapentin dosage over three weeks. Magnetic resonance imaging confirmed the presence of myositis confined to the left thigh and the patient's symptoms and laboratory abnormalities resolved following Gabapentin cessation. While Gabapentin-induced myositis and rhabdomyolysis is a rare entity, it should be a diagnostic consideration for radiologists, particularly in the absence of infection or trauma.

[Keratitis after laser in situ keratomileusis (LASIK). A different entity and treatment management].

PubMed

Ahmed, Shakil; Ahmed, Hassan Javed; Holm, Lars Morten

2014-12-15

Keratitis after laser in situ keratomileusis (LASIK) is rare and challenging as patients may present with mild symptoms and initial management differs significantly. Post-LASIK keratitis is usually due to gram-positive bacteria or opportunistic/atypical microorganisms located beneath the corneal flap. Due to relative protective interface location it is necessary to lift the corneal flap for cultures and antibiotic irrigation. The case report demonstrates that post-LASIK keratitis requires prompt referral to ophthalmology department as correct initial management is pivotal for good visual outcome.

[Sialadenoma papilliferum].

PubMed

Tanghe, W; Roelens, J; Clarysse, J; Loncke, R

1981-01-01

In this article we described a case of sialadenoma papilliferum detected in an old lady during a complete clinical survey for unrelated causes. This tumor did not produce any symptoms. The sialadenoma papilliferum was first described as a separate entity in 1969. Since several other reports have been made but the tumor is definitely rare, usually an accidental finding and most commonly localized in the mouth in the transition zone of soft and hard palate. Our case is the first published in a woman and as yet also the oldest. A survey of the literature is given.

Kikuchi-Fujimoto disease and systemic lupus erythematosus: the EBV connection?

PubMed

Gionanlis, Lazaros; Katsounaros, Marios; Bamihas, Gerasimos; Fragidis, Stelios; Veneti, Panagiota; Sombolos, Kostas

2009-01-01

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disease of unknown etiology that affects mainly young women. It presents with localized lymphadenopathy, usually cervical, accompanied with fever, night sweats, and leucopenia. KFD has been rarely described in association with autoimmune disorders, mainly systemic lupus erythematosus (SLE). We report the case of a young patient presenting with KFD coinciding with SLE. The association of KFD and SLE is reviewed. Moreover, a possible pathogenetic role of Ebstein-Barr virus linking the two clinical entities is discussed.

Hypertriglyceridemia Thalassemia Syndrome: Common Disease, Uncommon Association.

PubMed

Das, Lipsa; Samprathi, Madhusudan; Shukla, Umesh; Bandyopadhyay, Debapriya; Das, Rashmi Ranjan

2016-07-01

Hypertriglyceridemia has been rarely described with thalassemia, an entity called hypertriglyceridemia-thalassemia syndrome. The authors describe a young infant diagnosed with thalassemia major with severe hypertriglyceridemia. The presence of severe hypertriglyceridemia in this child which rapidly resolved after transfusion, probably suggests a self limited mechanism which may not require therapy. Though hypertriglyceridemia has been reported with hemolytic anemias, the mechanism is unclear. This case illustrates that thalassemia may be associated with hypertriglyceridemia; once familial and secondary causes are ruled out, clinicians may wait for spontaneous resolution before considering specific therapy.

Primary angiosarcoma of the spleen--CT, MR, and sonographic characteristics: report of two cases.

PubMed

Vrachliotis, T G; Bennett, W F; Vaswani, K K; Niemann, T H; Bova, J G

2000-01-01

Primary angiosarcoma of the spleen is a rare entity, but it is the most common primary splenic malignancy. These tumors demonstrate an aggressive growth pattern and can be single or multiple. The diagnosis should be suspected in a patient who presents with splenomegaly but without evidence of lymphoma, malaria, leukemia, or portal hypertension. The tumor may also present with acute abdominal symptoms secondary to spontaneous splenic rupture. We describe two cases of primary angiosarcoma of the spleen with computed tomographic, magnetic resonance, and sonographic features.

Lateral idiopathic subluxation of the radial head. Case report.

PubMed

Lancaster, S; Horowitz, M

1987-01-01

Idiopathic subluxation of the radial head (ISRH) is a rare entity that is separate from congenital dislocations of the radial head, both symptomatically and radiographically. ISRH causes pain and restriction of rotation. A dome-shaped radial head, a hypertrophied ulna, and a hypoplastic capitellum are not present in ISRH, as they are in a congenital dislocation of the radial head (CDRH). A true lateral ISRH is used as an example to demonstrate these differences. Remodeling of the radial head may preserve motion in the joint surface deformed by growth along abnormal planes of motion.

ESWR1-CREM Fusion in an Intracranial Myxoid Angiomatoid Fibrous Histiocytoma-Like Tumor: A Case Report and Literature Review.

PubMed

Gareton, Albane; Pierron, Gaëlle; Mokhtari, Karima; Tran, Suzanne; Tauziède-Espariat, Arnault; Pallud, Johan; Louvel, Guillaume; Meary, Eric; Capelle, Laurent; Chrétien, Fabrice; Varlet, Pascale

2018-05-19

Gene fusions of EWSR1 with members of the CREB family of transcription factors (CREB1, ATF1, and CREM) have recently been described in exceptional intracranial myxoid mesenchymal tumors. Although this is a known gene fusion found in various mesenchymal tumors, EWSR1 fusion with CREM has only been observed in 3 intracranial myxoid tumors. In this paper, we present 1 such tumor with in-depth histopathological description and long-term follow-up. There is controversy regarding whether these tumors represent a novel entity or simply an intracranial localization of the myxoid variant of angiomatoid fibrous histiocytoma, a rare soft tissue tumor of the extremities. Out of 11 cases mentioned in the literature, the 3 isolated case reports by Dunham et al, Ochalski et al, and Alshareef et al are designated as angiomatoid fibrous histiocytoma, whereas the others are defined as a novel tumoral entity called intracranial myxoid mesenchymal tumor with EWSR1-CREB fusion. We believe the vast morphological and immunohistochemical spectrum of angiomatoid fibrous histiocytoma makes it difficult to dismiss this diagnosis.

Prolonged ictal aphasia: a diagnosis to consider.

PubMed

Herskovitz, Moshe; Schiller, Yitzhak

2012-11-01

Aphasia is a common symptom encountered by clinical neurologists. It is usually caused by strokes or lesions involving language regions of the brain, yet prolonged aphasia is rarely the sole manifestation of a simple partial status epilepticus. We report six patients, who suffered from prolonged ictal aphasia. All but one patient had a structural lesion in the left hemisphere, only three suffered from clinical seizures during or shortly prior to the aphasic episode. All patients had ictal patterns on the electroencephalogram (EEG), four of whom had periodic lateralized epileptiform discharges, and five showed frequent recurrent electrographic seizures during the aphasic state. The aphasia lasted several days in all patients, and it resolved after administration of antiepileptic drug treatment. In conclusion, prolonged ictal aphasia is a rare but important treatable cause of aphasia. Surface EEG recordings should be obtained in all patients with unexplained prolonged aphasia to diagnose this rare but treatable entity. Crown Copyright © 2012. Published by Elsevier Ltd. All rights reserved.

Metastatic adenocarcinoma of mammary-like glands of the vulva successfully treated with surgery and hormonal therapy.

PubMed

Benito, Virginia; Arribas, Sara; Martínez, David; Medina, Norberto; Lubrano, Amina; Arencibia, Octavio

2013-01-01

Vulvar cancer is a rare malignancy; most tumors are squamous cell type while adenocarcinomas are rare. Primary adenocarcinomas of the vulva predominantly include extramammary Paget's disease and sweat gland carcinomas. Greene first described a rare form of adenocarcinoma in 1936, which was called adenocarcinoma of mammary-like glands of the vulva because of its morphologic and immunohistochemical resemblance to breast adenocarcinomas. In the management of this entity, varying combinations of surgery, radiation therapy, systemic chemotherapy and/or hormonal therapy may be used, as in patients with orthotopic breast carcinoma. However, hormonal therapy leads the way in patients with positive hormonal receptors, where other therapies cannot be used due to comorbidities or advanced age. We present the first reported case of an elderly patient with metastatic vulvar adenocarcinoma arising from mammary-like glands, successfully treated with a combination of surgery and hormonal therapy. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

Primary paranasal sinus hyalinizing clear cell carcinoma: a case report.

PubMed

AlAli, Batool M; Alyousef, Mohammed J; Kamel, Ahmad Salah; Al Hamad, Mohammad A; Al-Bar, Mohammad H; Algowiez, Roaa M

2017-09-25

Hyalinizing clear cell carcinoma (HCCC) is a rare low-grade tumour of salivary glands that was first described as a distinct entity in 1994 by Milchgrub et al. EWSR1-ATF1 fusion was found to be specific for this tumour. The majority of the reported cases of HCCC arise from minor salivary glands within the oral cavity. Primary HCCC of the paranasal sinus is extremely uncommon. To our knowledge, only three cases have been reported in the English literature. Herein, we present a case of HCCC of the posterior ethmoid/maxillary sinus. A 63-year-old lady who presented with a long history of epistaxis. CT scan revealed a destructive mass in the left ethmoid/posterior maxillary sinus extending to the nasal cavity. Surgical excision was done and microscopic evaluation showed a tumour composed mainly of nests of clear epithelial cells separated by fibrocellular and hyalinized septa with extensive bone destruction. The tumour cells expressed CK5/6, EMA and p63 immunohistochemically but were negative for S100 protein, PAX-8, RCC and CK7. Sinonasal renal cell-like adenocarcinomas, myoepithelial carcinoma and metastatic renal cell carcinoma were excluded by radiological and immunohistochemical studies. Fluorescence in situ hybridization analysis revealed an EWSR1 gene rearrangement. Postoperative radiation was administrated and the patient did not show recurrence or distant metastasis 4 months after the surgery. Head and neck region have many tumours that demonstrate clear cell changes on histology. Thus, the differential diagnosis for HCCC is wide. Awareness of this rare entity and the possibility of it is arising in unusual location is necessary. EWSR1-AFT1 fusion, a consistent finding in HCCC, can be used to confirm the diagnosis.

Seborrheic Keratosis-like Lesions of the Cervix and Vagina: Report of a New Entity Possibly Related to Low-risk Human Papillomavirus Infection.

PubMed

Talia, Karen L; McCluggage, W Glenn

2017-04-01

We report a series of 7 unusual and morphologically distinct cervical or upper vaginal lesions in women aged 41 to 70 years. The lesions involved the cervix in 3 cases, the upper vagina in 2, the cervix and vagina in 1, and in 1 case the site of origin could not be determined. The lesions had a consistent morphologic appearance with a surface "plaque-like" or "stuck-on" configuration apparent in those cases where surrounding normal tissues were present. Broad coalescing solid sheets and interconnecting trabeculae of cytologically bland cells with a rather "basaloid" appearance emanated from the surface and there were scattered squamous eddies. Other features included peripheral palisading and a stroma containing hyalinized basement membrane-like material. Immunohistochemically, the lesions were diffusely positive with p63, CK5/6, and 34βE12 and focally positive with CK7, but largely negative with CK20, EMA, CEA, and BerEP4. p16 was negative or exhibited nonblock-type immunoreactivity and GATA3 was negative or weakly positive. Molecular testing detected human papillomavirus type 42 in 3 of 7 cases, with no virus detected in the remaining 4 cases. Rarely, similar cases have been reported previously as inverted transitional papilloma of the cervix or vagina, but based on the morphology and immunophenotype we do not feel these represent transitional lesions. We suggest the term seborrheic keratosis-like lesions to designate this new and rare entity, which may be associated with low-risk human papillomavirus infection. Limited follow-up in a small number of cases suggests that these lesions follow a benign clinical course.

Posterior reversible encephalopathy syndrome in IgA vasculitis: Neuroimaging of a 14-year-old child.

PubMed

Arslan, Harun; Yavuz, Alpaslan; Arslan, Ayşe; Aycan, Abdurrahman

IgA vasculitis (IgAV) is a leukocytoclastic vasculitis and characterized by involvement of small vessels in skin, gastrointestinal system, joints, kidneys, and less frequently other organs. It is the commonest vasculitis in childhood and etiology is not completely known. Neurological manifestations of IgAV are very rare and usually seen in patients with severe hypertension or as an uncommon feature such as peripheral neuropathy. Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiologic entity characterized with temporary vasogenic edema developing typically in posterior circulation of the brain and has been reported as a rare manifestation of IgAV. In this paper, a PRES case of 14-year-old male with IgAV is reported and etiopathogenesis was discussed with literature. Diagnosis was made by magnetic resonance imaging because of the existence of neurological symptoms (headache and visual loss) during the course of disease. His radiological findings have resolved with therapy. Although neurological involvement is a rare manifestation in IgAV, we recommend magnetic resonance imaging in such patients for diagnosis and evaluation of complications. Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.

Ovarian Sertoli-Leydig cell tumor with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review

PubMed Central

Horta, Mariana; Cunha, Teresa Margarida; Marques, Rita Canas; Félix, Ana

2014-01-01

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alpha-fetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrine-inactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker. PMID:25926909

Ovarian Sertoli-Leydig cell tumor with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review.

PubMed

Horta, Mariana; Cunha, Teresa Margarida; Marques, Rita Canas; Félix, Ana

2014-11-01

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alpha-fetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrine-inactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker.

Extrapelvic endometriosis: a rare entity or an under diagnosed condition?

PubMed Central

2013-01-01

Endometriosis is a clinical entity characterized by the presence of normal endometrial mucosa abnormally implanted in locations other than the uterine cavity. Endometriosis can be either endopelvic or extrapelvicdepending on the location of endometrial tissue implantation. Despite the rarity of extrapelvic endometriosis, several cases of endometriosis of the gastrointestinal tract, the urinarytract, the upper and lower respiratory system, the diaphragm, the pleura and the pericardium, as well as abdominal scars loci have been reported in the literature. There are several theories about the pathogenesis and the pathophysiology of endometriosis. Depending on the place of endometrial tissue implantation, endometriosis can be expressed with a wide variety of symptoms. The diagnosis of this entity is neither easy nor routine. Many diagnostic methods clinical and laboratory have been used, but none of them is the golden standard. The multipotent localization of endometriosis in combination with the wide range of its clinical expression should raise the clinical suspicion in every woman with periodic symptoms of extrapelvic organs. Finally, the therapeutic approach of this clinical entity is also correlated with the bulk of endometriosis and the locum that it is found. It varies from simple observation, to surgical treatment and treatment with medication as well as a combination of those. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1968087883113362. PMID:24294950

Malignant perivascular epithelioid cell tumor (PEComa) of the femur: a case report and literature review.

PubMed

Lao, I Weng; Yu, Lin; Wang, Jian

2015-05-29

We describe a case of malignant perivascular epithelial cell tumor (PEComa) arising primarily in the distal left femur of a 47-year-old male. The patient presented with pain accompanied by progressive swelling of his left thigh. Computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed an osteolytic lesion. Curettage of the lesion was reported as a clear cell tumor with recommendation for exclusion of a metastatic clear cell carcinoma. However, thorough examinations did not find any primary site elsewhere, apart from the presence of bilateral pulmonary metastases. Evaluation of the submitted H & E slides identified a malignant PEComa which was further confirmed by subsequent immunohistochemical study. The occurrence of PEComa as a primary bone lesion is extremely rare. We present here a malignant PEComa of the distal left femur, and summarize the clinicopathological characteristics of this rare entity with literature review. The virtual slide (s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/5729035221600545 .

Spontaneous hemothorax caused by ruptured multiple mycotic aortic aneurysms: a case report and literature review.

PubMed

Li, Po-Sung; Tsai, Chung-Lin; Hu, Sung-Yuan; Lin, Tzu-Chieh; Chang, Yao-Tien

2017-12-02

Mycotic aortic aneurysm (MAA) is a rare clinical entity with an incidence of 1-3%, but it is a life-threatening infection of aorta characterized by dilatation of aorta with false lumen. Multiple MAAs have been reported rarely with an incidence of 0.03% and associated with a high mortality rate of 80% if ruptured. A hypertensive and diabetic 78-year-old man visited our emergency department complaining intermittent dull and tingled pain over the left flank region for 1 week. Chest X-ray showed left pleural effusion and hemothorax was confirmed by thoracocentesis. Computed tomography (CT) of chest demonstrated multiple thoracic aortic aneurysms and the pathological findings disclosed the diagnosis of multiple MAAs. He was discharged under an uneventful condition post-surgical aortic repair with adequate intravenous antibiotics for 4 weeks. CT scan may make a definite diagnosis of multiple MAAs and management with surgical debridement, aortic repair and full-course antibiotics for Gram-positive coccus and/or Gram-negative bacillus is recommended.

Novel Development of Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) Syndrome due to Insulin Therapy

PubMed Central

Mainali, Naba Raj; Schmidt, Torrey R.; Alweis, Richard; George, David L.

2014-01-01

Patient: Male, 67 Final Diagnosis: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: — Clinical Procedure: — Specialty: Rheumatology Objective: Unusual or unexpected effect of treatment Background: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of inflammatory arthritis and marked pitting edema on upper and lower extremities. RS3PE is considered a rheumatic process distinct from rheumatoid arthritis, which may occasionally represent a paraneoplastic syndrome. Case Report: Herein, we describe a rare case of RS3PE associated with insulin therapy in a patient with no evidence of underlying malignancy. Conclusions: To the best of our knowledge, this is the first case report of RS3PE associated with insulin therapy. Physicians should look at the introduction of drugs as possible triggers for the development of RS3PE. PMID:24696753

Primary Endometrial Squamous Cell Carcinoma In Situ: Report of a rare disease.

PubMed

Jetley, Sujata; Jairajpuri, Zeeba S; Hassan, Mohammad J; Madaan, Garima; Jain, Reena

2015-11-01

Squamous cell carcinoma (SCC) of the endometrium, whether primary or secondary to cervical cancer, is a rare entity. Primary endometrial squamous cell carcinoma in situ is even more uncommon; it usually occurs in postmenopausal women and has a strong association with pyometra. We report a 60-year-old multiparous postmenopausal woman who presented to the Hakeem Abdul Hameed Centenary Hospital, New Delhi, India, in May 2014 with a lower abdominal swelling corresponding in size to a pregnancy of 26 gestational weeks and vaginal discharge of one year's duration. A total abdominal hysterectomy with a bilateral salpingooophorectomy was performed, which revealed an enlarged uterus with pyometra. Histopathology showed that the entire endometrial lining had been replaced with malignant squamous cells without invasion of the myometrium. Immunohistochemistry revealed that the tumour cells were positive for p63 with a high Ki-67 labelling index. No adjuvant therapy was required and the patient was disease-free at a seven-month follow-up.

Solid pseudopapillary neoplasm of the pancreas: report of a rare case and review of the literature.

PubMed

Yener, Arzu Neşe; Manukyan, Manuk; Mıdı, Ahmet; Cubuk, Rahmi

2014-01-01

Solid pseudopapillary neoplasm, a rare primary neoplasm of the pancreas that typically affects young women, is a relatively indolent entity with favorable prognosis. We here report a 20-year-old young girl with solid pseudopapillary neoplasm who presented with mild dull abdominal discomfort without any significant laboratory findings. On MRI, a heterogenous mass was found at the distal pancreas. The patient underwent en-block distal pancreatectomy with splenectomy with the presumptive diagnosis of cystic neoplasm of the pancreas. The tumor was well-circumscribed, encapsulated, 5.5 cm in the greatest dimension and showed typical papillary and pseudopapillary structures. Capsular invasion was seen on focal areas. The patient was not given any adjuvant therapy and shows no sign of disease after six months follow-up. It is important to differentiate this tumor from other pancreatic neoplasms because this neoplasm is amenable to cure after complete surgical resection even in cases with capsular invasion, unlike malignant tumors of the pancreas.

Eyelid Edema: A Rare Cause of a Common Sign

PubMed Central

Almeida, Cristina; Freitas, Cristina; Sales-Sanz, Marco; Ribeiro, Sara

2017-01-01

We report a 48-year-old female patient who presented to the emergency room with right eyelid edema, with 3 days of evolution. She had suffered minor trauma to this eye one week before. She reported episodes of right eyelid swelling of spontaneous resolution since the occurrence of a traumatic brain injury 5 years ago. Ophthalmological examination showed a soft and painless eyelid edema of the right eye. Brain computed tomography showed an area of bone discontinuity of the orbital roof with brain herniation and a CSF leak into the eyelid (blepharocele). Magnetic resonance confirmed the result of TC and revealed an area of frontal encephalomalacia. Ibuprofen (800 mg/day) was prescribed, with complete resolution within 20 days. She was evaluated by Neurosurgery with no indication of surgery due to the resolution of the edema and absence of symptoms. Blepharocele is a rare entity that should be considered in the differential diagnosis of unilateral eyelid edema. It can be secondary to an orbital fracture or congenital lesion. PMID:28848682

The Clay Shoveler's Fracture: A Case Report and Review of the Literature.

PubMed

Posthuma de Boer, Jantine; van Wulfften Palthe, Alexander F Y; Stadhouder, Agnita; Bloemers, Frank W

2016-09-01

A clay-shoveler's fracture is a very rarely occurring stress-type avulsion fracture of the lower cervical or upper thoracic spinous processes owing its name to the clay shovelers of past times. Currently, this type of injury is mainly encountered in individuals practicing sports involving rotational movements of the upper spine. We present a case of a man sustaining a clay-shoveler's injury during his work in a horse-riding school. Treatment consisted of a period of rest and analgesics, followed by mobilization as was tolerated. We give a brief historical account of clay shoveler's fractures. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Clay-shoveler's fractures are frequently overlooked due to their rareness; however, they have specific clinical features that should alert an attending physician to set the correct diagnosis. This report describes a typical case of a clay-shoveler's fracture, relates to the historical entity of clay-shoveler's fractures, and summarizes existing literature on this topic. Copyright © 2016 Elsevier Inc. All rights reserved.

Delayed intracerebral and subdural hematomas after ventriculo-peritoneal shunt in a child: A case report and review of the literature.

PubMed

Coulibaly, O; Dama, M; Diallo, O; Li, G; Sogoba, Y; Kanikomo, D

2016-04-01

Ventriculo-peritoneal shunt (VPS) continues to remain the main diverted method to drain the cerebrospinal fluid (CSF) from the ventricles to the peritoneal cavity. It has some complications that must be managed promptly to avoid any eventual fatal evolution. The association of delayed intracerebral and subdural hematomas after VPS insertion is a very rare complication and has, to our knowledge, never previously been reported in the literature. We report a very uncommon association of this entity occurring 11months after a shunt placement in a 13-year-old boy and discuss the likely pathogenesis, as well as the clinical and the radiological data. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Repair of a Large Main Pulmonary Artery Aneurysm in a 71-Year-Old Jehovah's Witness Patient

PubMed Central

Henn, Lucas W.; Esmailian, Fardad

2013-01-01

Pulmonary artery aneurysm is a rarely reported and poorly studied entity; most mentions in the literature are in case series and case reports. Cardiac surgery in Jehovah's Witness patients is occurring more frequently because of improved techniques of blood conservation. We report the repair of a large pulmonary artery aneurysm in a 71-year-old woman who was a Jehovah's Witness. Using total cardiopulmonary bypass, we replaced the main pulmonary artery and both branches with Gelweave tube-grafts, because the fragility of a homograft presented possible bleeding problems. The patient recovered rapidly, and her symptoms were greatly improved. We think that a patient's status as a Jehovah's Witness need not preclude potentially life-saving cardiac operations. PMID:23914038

Repair of a large main pulmonary artery aneurysm in a 71-year-old Jehovah's Witness patient.

PubMed

Henn, Lucas W; Esmailian, Fardad

2013-01-01

Pulmonary artery aneurysm is a rarely reported and poorly studied entity; most mentions in the literature are in case series and case reports. Cardiac surgery in Jehovah's Witness patients is occurring more frequently because of improved techniques of blood conservation. We report the repair of a large pulmonary artery aneurysm in a 71-year-old woman who was a Jehovah's Witness. Using total cardiopulmonary bypass, we replaced the main pulmonary artery and both branches with Gelweave tube-grafts, because the fragility of a homograft presented possible bleeding problems. The patient recovered rapidly, and her symptoms were greatly improved. We think that a patient's status as a Jehovah's Witness need not preclude potentially life-saving cardiac operations.

Tuberculous Otitis Media Leading to Sequentialib Bilateral Facial Nerve Paralysis.

PubMed

Gupta, Nitin; Dass, Arjun; Goel, Neha; Tiwari, Sandeep

2015-05-01

Tuberculous otitis media (TOM) is an uncommon, insidious, and frequently misdiagnosed form of tuberculosis (TB). In particular, TOM is usually secondary to direct transmission from adjacent organs, while the primary form has been rarely reported. The main aim of treatment is to start the patient on an antitubercular regime and early surgical intervention to decompress the facial nerve if involved. The case report of a twenty year-old male with bilateral tuberculous otitis media, who presented himself with fever followed by sequential bilateral facial nerve paralysis, bilateral profound hearing loss, and abdominal tuberculosis leading to intestinal perforation, is presented. To the best available knowledge and after researching literature, no such case depicting the extensive otological complications of tuberculosis has been reported till date. Tuberculosis of the ear is a rare entity and in most cases the clinical features resemble that of chronic otitis media. The diagnosis is often delayed due to varied clinical presentations and this can lead to irreversible complications. Early diagnosis is essential for prompt administration of antitubercular therapy and to prevent complications.

Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature.

PubMed

Soveid, Mahmood; Rais-Jalali, Ghanbar Ali

2016-11-01

Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenorrhea and lack of sexual development. The karyotype was 46, XY. Hormonal evaluation showed low serum levels of all steroid hormones, requiring alpha-hydroxylation, which included cortisol, 17 alpha-hydroxy progesterone, dehydroepiandrosterone sulfate, estradiol, and testosterone. The levels of adrenocorticotropic, follicle-stimulating, and luteinizing hormones were high. Radiological and surgical investigations failed to show a gonad. She also had a large myelolipoma. Treatment was commenced with low-dose dexamethasone and conjugated estrogen. Her hypertension and hypokalemia were resolved. The myelolipoma was removed by laparoscopy due to pain and sensation of heaviness. Our review of literature revealed that a combination of this disorder with either agonadism or myelolipoma is very rare and that only 2 previous cases have been reported for each entity.

Fat-forming Solitary Fibrous Tumor of the Kidney - A Case Report and Literature Review.

PubMed

Bacalbasa, Nicolae; Balescu, Irina; Jinescu, George; Marcu, Madalina; Contolenco, Andreea; Pop, Doina; Dobritoiu, Dragos; Ionescu, Olivia; Ionescu, Paris; Stoica, Claudia

2018-01-01

Fat-forming solitary fibrous tumors arising from the kidney are extremely rare, with only few cases reported so far. We report the case of a 49-year-old patient investigated for lumbar pain and diagnosed preoperatively with a large retroperitoneal tumor destroying the right kidney. The patient was submitted to surgery, the tumor being resected en bloc with right nephrectomy. The histopathological studies demonstrated the presence of a hemangiopericytoma-like tumor with adipocytary component; the immunohistochemical studies demonstrated the presence of cluster of differentiation 34 (CD34), while human melanoma black (HMB45) staining was negative. Therefore, the diagnostic of fat-forming solitary fibrous tumor of the kidney was established. The postoperative outcome was uneventful, the patient being discharged on the sixth postoperative day. In conclusion, although fat-forming solitary fibrous tumor of the kidney is a very rare entity, this diagnosis should be taken into consideration whenever a large retroperitoneal mass with high adipose content and renal invasion is described at the preoperative studies. Copyright© 2018, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography).

PubMed

Aparici, Carina Mari; Arcienega, Daniela; Cho, Eric; Hawkins, Randy

2010-01-01

Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma. To our knowledge, this is the first KID syndrome imaged with FDG-PET in the literature. This paper is intended to help familiarize with the FDG abnormalities related to this rare entity.

Abdominal cocoon secondary to disseminated tuberculosis.

PubMed

Puppala, Radha; Sripathi, Smiti; Kadavigere, Rajagopal; Koteshwar, Prakashini; Singh, Jyoti

2014-09-19

Abdominal cocoon, also known as sclerosing encapsulating peritonitis, represents a rare entity where a variable length of the small bowel is enveloped by a fibrocollagenous membrane giving the appearance of a cocoon. It may be asymptomatic and is often diagnosed incidentally at laparotomy. We present a rare case of abdominal cocoon due to abdominal tuberculosis. 2014 BMJ Publishing Group Ltd.

Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report

PubMed Central

Ooi, Sara; Ngo, Harry

2017-01-01

We report the case of a 32-year-old gravida 2 para 1 woman with a background of partially resected desmoid tumor (DT) arising from the previous cesarean section (CS) scar. This case details the management of her DT by surgical resection and mesh repair and second pregnancy following this. Pregnancy-related DTs are a relatively rare entity, and there is a paucity of literature regarding their management during pregnancy. There are only five reported cases of DTs arising from CS scars. To our knowledge, this is the only report to illustrate that subsequent CS is possible after desmoid resection and abdominal mesh repair. It provides evidence that CS can be safely accomplished following abdominal wall reconstructions and further arguments against elective lower segment CS. PMID:28744163

Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report.

PubMed

Ooi, Sara; Ngo, Harry

2017-01-01

We report the case of a 32-year-old gravida 2 para 1 woman with a background of partially resected desmoid tumor (DT) arising from the previous cesarean section (CS) scar. This case details the management of her DT by surgical resection and mesh repair and second pregnancy following this. Pregnancy-related DTs are a relatively rare entity, and there is a paucity of literature regarding their management during pregnancy. There are only five reported cases of DTs arising from CS scars. To our knowledge, this is the only report to illustrate that subsequent CS is possible after desmoid resection and abdominal mesh repair. It provides evidence that CS can be safely accomplished following abdominal wall reconstructions and further arguments against elective lower segment CS.

Headache associated with airplane travel: a rare entity.

PubMed

Cherian, Ajith; Mathew, Mini; Iype, Thomas; Sandeep, P; Jabeen, Afshan; Ayyappan, K

2013-01-01

Airplane travel headache is rare and has recently been described as a new form of headache associated with a specific situation. Of the 1,208 patients with primary headaches attending a tertiary care neurology hospital, two (0.16%) patients satisfied the criteria for headache related to airplane travel. Both the patients fulfilled the proposed diagnostic criteria for airplane travel headache. This unique headache had a mean duration of 24 minutes, localized to the medial supraorbital region described as having an intense jabbing or stabbing character that occurred exclusively and maximally during aircraft landing or take-off, following which pain intensity subsided . This rare headache felt on aircraft descent is probably due to the squeeze effect on the frontal sinus wall, when air trapped inside it contracts producing a negative pressure leading to mucosal edema, transudation and intense pain. Use of nasal decongestants either alone or in combination with naproxen sodium prior to ascent and descent abated the headache episodes. Awareness about this unique entity is essential to provide proper treatment and avoid patient suffering.

[Melorheostosis of the foot: a case report of a rare entity].

PubMed

Craiovan, B; Zeiler, G; Delling, G; Schuh, A

2006-12-01

Melorheostosis is a rare bony dysplasia and often recognised just sporadically by chance. We present a case of a 15 year old girl who presented a melorheostosis of the left foot. After birth there was recognized a shortening and deformity of the 2nd toe on the left foot. Furthermore she had an interphalangeal hallux valgus that displaced the 2nd toe increasingly. Thus in the last years there were more and more difficulties to wear normal shoes. Conservative therapy was not successful. We performed a lengthening extending osteotomy of the 2nd toe (a modified Weil osteotomy) and an Akin osteotomy of the interphalangeal hallux valgus. Since the surgical procedure the patient is out of any complaints. We demonstrate the radiologic and histologic findings and discuss the relevant literature and possible etiology.

Triple ectopic thyroid: A rare entity

PubMed Central

Nilegaonkar, Sujit; Naik, Chetna; Sonar, Sameer; Hirawe, Deepti

2011-01-01

Ectopic thyroid tissue is an uncommon congenital aberration. It is extremely rare to have three ectopic foci at three different sites. The thyroid scan has been used successfully to diagnose ectopic thyroid tissue. We report a case of ectopic thyroid tissue at base of tongue, another at the level of hyoid and third one as aberrant tissue at suprahyoid location in a 16 year old female who presented with swelling in front of neck. This patient was clinically diagnosed as thyroglossal cyst and was being planned for surgery. Preoperative thyroid scan helped in establishing diagnosis of ectopic thyroid which was the only functioning thyroid tissue. Thus, it prevented unnecessary surgery. Therefore it is suggested that thyroid scan and USG/CT scan must be done as routine work up in neck swellings pre operatively to avoid unnecessary surgeries. PMID:23559716

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

PubMed

Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-04-01

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

Perivascular epithelioid cell tumor (PEComa) of the cheek.

PubMed

Ghazali, Naseem; Cascarini, Luke; Norris, Paul; Barrett, A W; Lavery, Kenneth M

2010-07-01

We present the unusual case of a perivascular epithelioid cell tumor (PEComa) occurring within the cheek of a 32-year-old woman. PEComa is a rare, recently described, family of tumors with diverse clinicopathologic expression and which express melanocytic and muscle markers. It mainly affects the abdominopelvic region and rarely occurs in somatic soft tissue or skin. To our knowledge, this is the first reported case of PEComa occurring in the facial cutaneous tissues. Other possible diagnoses considered included benign mesenchymal tumors of smooth muscle or neural origin. However, the cytomorphologic and immunohistochemical profile were most suggestive of PEComa. The tumor was completely excised, but in view of uncertainty as to how this entity would behave in an unusual location, lifelong follow up is recommended. After complete excision, there was no recurrence in 4 years. Copyright (c) 2010 Mosby, Inc. All rights reserved.

Dental Management of a Pediatric Patient with Moyamoya Syndrome: A Rare Clinical Entity.

PubMed

Ko, Brittany L; Unkel, John H

2018-01-01

Moyamoya disease (MMD) is a rare cerebrovascular disorder involving progressive constriction of the internal carotid artery and its branches. The disease has a particularly aggressive course in very young patients, and early surgical intervention is often necessary to prevent permanent neurological damage. MMD patients have an increased risk of stroke development, which may be provoked by pain or anxiety. Currently, no reports of pediatric patients with MMD exist in the dental literature. The purpose of this paper was to discuss the dental management of a two-year-old with moyamoya disease who presented with early childhood caries and dental fear, offering recommendations for dental providers with emphasis on stroke prevention, collaboration with the medical team, anesthesia considerations for patients with increased stroke risk, and the challenges to maintain the oral health of a patient undergoing complex medical treatment.

Vernix caseosa peritonitis as a rare complication of cesarean section. A case report.

PubMed

Tawfik, O; Prather, J; Bhatia, P; Woodroof, J; Gunter, J; Webb, P

1998-06-01

Vernix caseosa peritonitis is a rare complication of cesarean section with distinctive histopathologic findings. Vernix caseosa peritonitis occurred in a 28-year-old, pregnant woman following emergency cesarean section. Exploratory laparotomy revealed right subphrenic and perihepatic fluid collections with multiple small abdominal abscesses. Cytopathologic examination of the peritoneal lavage specimen showed a purulent inflammatory exudate admixed with occasional squamous debris, portions of hair shafts, meconium pigment, and foamy and multinucleated giant cells. During hospitalization the patient had developed Clostridium perfringens acute endometritis, presumably due to aggressive treatment with broad-spectrum antibiotics. Pathologists are in a unique position to make the correct diagnosis in an otherwise-ambiguous clinical presentation because of the distinctive histopathologic and cytopathologic findings of this entity. Computed tomography-guided fine needle aspiration cytologic evaluation can be diagnostic in such cases.

A case of De Garengeot hernia requiring early surgery

PubMed Central

Pan, Chao-Wen; Tsao, Min-Jen; Su, Ming-Shan

2015-01-01

De Garengeot hernia is a rare clinical entity defined as the presence of a vermiform appendix within a femoral hernia sac. A 50-year-old woman presented to the emergency department with a painful lump over her right groin region. A bedside ultrasound was performed and soft tissue lesion was suspected. CT was performed and revealed a swollen tubular structure with fat stranding within the mass. De Garengeot hernia with acute appendicitis was diagnosed preoperatively, and an emergency appendectomy and hernioplasty were performed. Although it is usually an incidental finding during hernioplasty, De Garengeot hernia should be considered in the differential diagnosis of patients with an incarcerated femoral hernia. Mesh repair can be performed depending on the clinical situation. We report a rare case of incarcerated femoral hernia with acute appendicitis that required early surgical management to avoid associated complications. PMID:26199302

Primary Orbital Chondromyxoid Fibroma: A Rare Case.

PubMed

Mullen, Martin G; Somogyi, Marie; Maxwell, Sean P; Prabhu, Vikram; Yoo, David K

A 56-year-old male with history of chronic sinusitis was found to have a 3 cm left orbital lesion on CT. Subsequent MRI demonstrated a multilobulated enhancing soft tissue lesion at the superotemporal region of the left orbit. Initial biopsy was reported as a low-grade sarcoma. On further evaluation, a consensus was made that the lesion was likely a benign mixed mesenchymal type tumor but should nonetheless be surgically removed. Left lateral orbitotomy was performed which revealed a tumor originating in the lateral orbital bone with segments eroding through the wall of the orbit. Intraoperative frozen sections revealed myoepitheliod tissue with locally aggressive features and the tumor was completely removed. The final histopathologic analysis of the tissue was consistent with a chondromyxoid fibroma. Chondomyxoid fibroma is a rare entity in the orbital bones and is more commonly seen in long bones.

Primary male neuroendocrine adenocarcinoma involving the nipple simulating Merkel cell carcinoma - a diagnostic pitfall.

PubMed

Mecca, Patricia; Busam, Klaus

2008-02-01

Male breast cancer is a rare entity accounting for < 1% of all breast cancer cases in the United States, but with a rate that has been rising over the last 25 years. Nipple skin/subcutaneous tumors in men are even rarer. Likewise, true neuroendocrine carcinoma of the breast, defined as > 50% of tumor cells staining for either chromogranin or synaptophysin, is not a common entity, usually occurring in older women. We present the case of a 70-year-old man with a slowly growing nipple mass that had enlarged over the previous 1.5 years. The histology consisted of nests, trabeculae and sheets of basaloid cells with rare abortive gland formation and a pushing edge. The case was originally misdiagnosed as a Merkel cell carcinoma, based largely on histologic morphology. Strong staining for synaptophysin (in greater than 50% of cells), CD56, keratins AE1 : AE3 and Cam 5.2, as well as estrogen receptor and progesterone receptor was noted. Myoepithelial cells within in situ areas were identified using stains for calponin and 4A4, supporting a primary mammary duct origin. Additionally, a substantial portion of cells stained for Gross Cystic Disease Fluid Protein-15 (GCDFP-15), confirming some overlap with sweat duct differentiation. To the best of our knowledge, although reported in the male breast, no case of primary nipple neuroendocrine carcinoma in a male patient has been reported in the literature. The gender of the patient and association with the skin of the chest wall probably contributed to the original misdiagnosis of Merkel cell carcinoma in this patient.

Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

PubMed

Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

2017-11-01

MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

[Adenocarcinoma of minor salivary gland origin: a recently described lesion. A case report].

PubMed

Advenier, Anne-Sophie; Poupart, Marc; Devouassoux-Shisheboran, Mojgan; Barnoud, Raphaëlle

2013-12-01

Cribriform adenocarcinoma of salivary gland origin is a rare and recently described lesion. In spite of the high incidence of metastatic spread, the prognosis remains very good. We report a case of a 64-year-old man with cribriform adenocarcinoma of salivary gland origin of the ventral tongue without locoregional or distant metastasis. The patient is currently 43-month post treatment without any local or regional recurrence of the disease. This entity should be kept in mind regarding its good prognosis and its resemblances with papillary carcinoma of the thyroid and adenoid cystic carcinoma with which it should not be confused. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Bone involvement and abcess formation by neutrophil-rich CD30+ anaplastic large-cell lymphoma mimicking skeletal infection in an AIDS patient.

PubMed

Mira, José A; Fernández-Alonso, Jorge; Macías, Juan; Sáez, Carmen; Japón, Miguel A; Pereda, Teresa; Pineda, Juan A

2003-07-01

Neutrophil-rich CD30+ anaplastic large-cell lymphoma (ALCL) is a rare pathological entity without distinct clinical behavior. Twelve cases of neutrophil-rich CD30+ anaplastic large-cell lymphoma (ALCL) have been reported, three of them were HIV-infected patients. All these reports stressed the presence of neutrophil infiltration as a new morphologic feature of CD30+ ALCL. Only one case of cutaneous involvement presented with microabscess formation. We describe a case of neutrophil-rich CD30+ ALCL in an AIDS patient with a clinical picture determined by the massive neutrophil infiltration of the tumor without necrosis nor local infection, but with the formation of abscesses.

Wandering Spleen and Organoaxial Gastric Volvulus after Morgagni Hernia Repair: A Case Report and Review of the Literature

PubMed Central

Gulia, Caterina; Miele, Vittorio; Trinci, Margherita; Briganti, Vito

2016-01-01

Wandering spleen and gastric volvulus are two rare entities that have been described in association with congenital diaphragmatic hernia. The diagnosis is difficult and any delay can result in ischemia and necrosis of both organs. We present a case of a 13-year-old girl, previously operated on for anterior diaphragmatic hernia and intrathoracic gastric volvulus, that presented to our service for a subdiaphragmatic gastric volvulus recurrence associated with a wandering spleen. In this report we reviewed the literature, analyzing the clinical presentation, diagnostic assessment, and treatment options of both conditions, in particular in the case associated with diaphragmatic hernia. PMID:27703832

Tuberculous abdominal aortic pseudoaneurysm with renal and vertebral tuberculosis: a case and literature review.

PubMed

Zhang, Chao; Chen, Bing; Gu, Yongquan; Luo, Tao; Yang, Shengjia; Liang, Weitao; Wang, Zhonggao

2014-09-12

Tuberculous pseudoaneurysm of the aorta is rare and exposes patients to a very high risk of unpredictable rupture. To our best knowledge, only 32 cases have been reported related to all arterial systems from 1993 to 2013 in the literature. We report a 44-year-old male who presented with an aortic pseudoaneurysm and tuberculosis of the kidney and vertebrae. He underwent endovascular repair and antibiotic therapy for tuberculosis, combined with a bare stent implanted to seal endoleaks after endograft stenting. The postoperative course was uneventful and the patient recovered and lived well afterwards. Epidemiology, pathogenesis, presentation, management, and mortality of this entity were reviewed and discussed.

Palatal botulinum toxin as a novel therapy for objective tinnitus in forced eyelid closure syndrome.

PubMed

Kaffenberger, Thomas M; Mandal, Rajarsi; Schaitkin, Barry M; Hirsch, Barry E

2017-05-01

Objective tinnitus associated with eyelid closure is a rare clinical entity with only a few reported cases. This association previously was identified as forced eyelid closure syndrome (FECS) and involves an aberrant neural reflex between cranial nerve VII (activating the orbicularis oculi muscle) and cranial nerve V (activating the tensor tympani muscle). We present a 52-year-old Caucasian female with a 2-month history of FECS who was successfully treated with intrapalatal botulinum toxin, with full resolution of her objective tinnitus symptoms. This is the first reported use of botulinum toxin in FECS. Laryngoscope, 127:1199-1201, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature.

PubMed

Agulló-Pérez, Alfredo Daniel; Resano-Abarzuza, Miguel Ángel; Córdoba-Iturriagagoitia, Alicia; Yanguas-Bayona, Juan Ignacio

2017-01-01

Porokeratotic eccrine and hair follicle nevus is a very rare non-hereditary disorder of keratinization with eccrine and hair follicle involvement with only 9 cases described in the literature. In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. Herein we report 2 cases of porokeratotic eccrine and hair follicle nevus and review the existing cases in the Spanish and English literature.

Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature*

PubMed Central

Agulló-Pérez, Alfredo Daniel; Resano-Abarzuza, Miguel Ángel; Córdoba-Iturriagagoitia, Alicia; Yanguas-Bayona, Juan Ignacio

2017-01-01

Porokeratotic eccrine and hair follicle nevus is a very rare non-hereditary disorder of keratinization with eccrine and hair follicle involvement with only 9 cases described in the literature. In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. Herein we report 2 cases of porokeratotic eccrine and hair follicle nevus and review the existing cases in the Spanish and English literature. PMID:29267468

Cervicothoracic epidural hematoma in a toddler with miosis, ptosis, nonspecific symptoms, and no history of major trauma: case report.

PubMed

Root, Brandon K; Schartz, Derrek A; Calnan, Dan R; Hickey, William F; Bauer, David F

2018-06-01

Spinal epidural hematomas are uncommon in children. The diagnosis can be elusive as most cases present without a history of trauma, while symptoms can be atypical. We encountered a 35-month-old male presenting with nonspecific symptoms and no history of trauma. He later developed unilateral miosis and ptosis; MRI discovered a subacute cervicothoracic epidural which was promptly evacuated. The patient made an excellent recovery. We emphasize the frequent absence of identifiable trauma and the importance of thorough imaging when this entity is suspected. Miosis and ptosis, likely representing a partial Horner syndrome, is an extremely rare presentation, this being one of the only reported cases.

Imaging Biomarkers for Adult Medulloblastomas: Genetic Entities May Be Identified by Their MR Imaging Radiophenotype.

PubMed

Keil, V C; Warmuth-Metz, M; Reh, C; Enkirch, S J; Reinert, C; Beier, D; Jones, D T W; Pietsch, T; Schild, H H; Hattingen, E; Hau, P

2017-10-01

The occurrence of medulloblastomas in adults is rare; nevertheless, these tumors can be subdivided into genetic and histologic entities each having distinct prognoses. This study aimed to identify MR imaging biomarkers to classify these entities and to uncover differences in MR imaging biomarkers identified in pediatric medulloblastomas. Eligible preoperative MRIs from 28 patients (11 women; 22-53 years of age) of the Multicenter Pilot-study for the Therapy of Medulloblastoma of Adults (NOA-7) cohort were assessed by 3 experienced neuroradiologists. Lesions and perifocal edema were volumetrized and multiparametrically evaluated for classic morphologic characteristics, location, hydrocephalus, and Chang criteria. To identify MR imaging biomarkers, we correlated genetic entities sonic hedgehog ( SHH ) TP53 wild type, wingless ( WNT ), and non -WNT/ non -SHH medulloblastomas (in adults, Group 4), and histologic entities were correlated with the imaging criteria. These MR imaging biomarkers were compared with corresponding data from a pediatric study. There were 19 SHH TP53 wild type (69%), 4 WNT -activated (14%), and 5 Group 4 (17%) medulloblastomas. Six potential MR imaging biomarkers were identified, 3 of which, hydrocephalus ( P = .03), intraventricular macrometastases ( P = .02), and hemorrhage ( P = .04), when combined, could identify WNT medulloblastoma with 100% sensitivity and 88.3% specificity (95% CI, 39.8%-100.0% and 62.6%-95.3%). WNT -activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm 3 versus 35.1-47.6 cm 3 ; P = .03). Hemorrhage was exclusively present in non -WNT/ non -SHH medulloblastomas ( P = .04; n = 2/5). MR imaging biomarkers were all discordant from those identified in the pediatric cohort. Desmoplastic/nodular medulloblastomas were more rarely in contact with the fourth ventricle (4/15 versus 7/13; P = .04). MR imaging biomarkers can help distinguish histologic and genetic medulloblastoma entities in adults and appear to be different from those identified in children. © 2017 by American Journal of Neuroradiology.

An unusual case of spontaneous esophagopleural fistula.

PubMed

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male.

An unusual case of spontaneous esophagopleural fistula

PubMed Central

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male. PMID:28474659

Dedifferentiated chondrosarcoma: an aggressive variant of chondrosarcoma.

PubMed

Bharath, Gangadhara; Burrah, Rajaram; Shivakumar, Kuppuswamy; Manjunath, Suraj; Bhanumathi, Rao

2015-02-01

Dedifferentiated chondrosarcomas are a rare and aggressive subtype of chondrosarcoma with a bimorphic pattern on histopathology. Rib is a rare site of dedifferentiated chondrosarcoma. Diagnosis of this subtype preoperatively can be challenging. Treatment options for dedifferentiated chondrosarcoma are limited because they are chemoresistant, and therefore adequate surgery forms the main stay of treatment. We present our experience with a dedifferentiated chondrosarcoma of the rib, and discuss the management of this rare entity. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography)

PubMed Central

Aparici, Carina Mari; Arcienega, Daniela; Cho, Eric; Hawkins, Randy

2010-01-01

Keratitis-Icthyosis-Deafness (KID) syndrome is a rare dysplasia characterized by vascularizing keratitis, congenital sensorineural hearing-loss, and progressive erythrokeratoderma. To our knowledge, this is the first KID syndrome imaged with FDG-PET in the literature. This paper is intended to help familiarize with the FDG abnormalities related to this rare entity. PMID:22470741

Breast abscess as the initial manifestation of primary pure squamous cell carcinoma: a rare presentation and literature review.

PubMed

Salemis, Nikolaos S

2011-01-01

Primary squamous cell carcinoma of the breast is a very rare tumor accounting for less than 0.4% of all breast cancers. Fewer than 100 cases have been reported in the literature so far. The diagnosis requires strict pathologic criteria to be fulfilled. Due to the rarity of this tumor the optimal treatment and prognosis are both unclear. Breast abscess as the initial presentation of a primary squamous cell breast carcinoma is an extremely rare clinical entity. In this study, we describe a case of a 61-year-old postmenopausal woman who presented with typical manifestations of a breast abscess and was diagnosed with a pure primary squamous cell breast carcinoma. Diagnostic evaluation and management of the patient are discussed along with a review of the literature. Despite its rarity, the possibility of a primary pure squamous cell breast carcinoma should always be considered in the differential diagnosis in postmenopausal patients presenting with manifestations of a breast abscess, especially in those who respond poorly to the initial treatment. Physicians should be aware of this rare malignancy in order to avoid delays in diagnosis and treatment.

Synchronous GIST with osteoclast-like giant cells and a well-differentiated neuroendocrine tumor in Ampula Vateri: coexistence of two extremely rare entities.

PubMed

Koçer, N Emrah; Kayaselçuk, Fazilet; Calişkan, Kenan; Ulusan, Serife

2007-01-01

Mesenchymal tumors of the gastrointestinal system with variable histopathological appearances and constant expression of CD117 are known as gastrointestinal stromal tumors (GISTs). Neuroendocrine tumors may be seen in the gastrointestinal system and other organ systems of the body. We report a 44-year-old male patient with a 6.5 x 3 x 6cm mass located in the Ampulla of Vater. Histopathologic examination revealed a GIST with a marked nuclear pleomorphism and a high mitotic rate, and that was rich in osteoclast-like giant cells (OGC). Immunohistochemically, GIST was positive for CD117, while OGCs were negative for CD117 and positive for CD68 and alpha1-antitrypsin. There was also found a well-differentiated neuroendocrine tumor near the GIST, in the serosal aspect of the duodenum at the point of the Ampulla of Vater. This second tumor was 20mm in diameter, and was relatively well circumscribed with few glands invading the GIST. This tumor was positive for synaptophysin and chromogranin. Neither mitosis nor vascular invasion was observed. The patient had no familial history or clinical manifestations of neurofibromatosis. This case presents the unique synchronous existence of two extremely rare entities, a GIST with OGC and a well-differentiated neuroendocrine tumor, both located in the Ampulla of Vater.

Fishtail deformity--a delayed complication of distal humeral fractures in children.

PubMed

Narayanan, Srikala; Shailam, Randheer; Grottkau, Brian E; Nimkin, Katherine

2015-06-01

Concavity in the central portion of the distal humerus is referred to as fishtail deformity. This entity is a rare complication of distal humeral fractures in children. The purpose of this study is to describe imaging features of post-traumatic fishtail deformity and discuss the pathophysiology. We conducted a retrospective analysis of seven cases of fishtail deformity after distal humeral fractures. Seven children ages 7-14 years (five boys, two girls) presented with elbow pain and history of distal humeral fracture. Four of the seven children had limited range of motion. Five children had prior grade 3 supracondylar fracture treated with closed reduction and percutaneous pinning. One child had a medial condylar fracture and another had a lateral condylar fracture; both had been treated with conservative casting. All children had radiographs, five had CT and three had MRI. All children had a concave central defect in the distal humerus. Other imaging features included joint space narrowing with osteophytes and subchondral cystic changes in four children, synovitis in one, hypertrophy or subluxation of the radial head in three and proximal migration of the ulna in two. Fishtail deformity of the distal humerus is a rare complication of distal humeral fractures in children. This entity is infrequently reported in the radiology literature. Awareness of the classic imaging features can result in earlier diagnosis and appropriate treatment.

The rare fluorinated natural products and biotechnological prospects for fluorine enzymology.

PubMed

Chan, K K Jason; O'Hagan, David

2012-01-01

Nature has hardly evolved a biochemistry of fluorine although there is a low-level occurrence of fluoroacetate found in selected tropical and subtropical plants. This compound, which is generally produced in low concentrations, has been identified in the plants due to its high toxicity, although to date the biosynthesis of fluoroacetate in plants remains unknown. After that, fluorinated entities in nature are extremely rare, and despite increasingly sophisticated screening and analytical methods applied to natural product extraction, it has been 25 years since the last bona fide fluorinated natural product was identified from an organism. This was the reported isolation of the antibiotic 4-fluorothreonine and the toxin fluoroacetate in 1986 from Streptomyces cattleya. This bacterium has proven amenable to biochemical investigation, the fluorination enzyme (fluorinase) has been isolated and characterized, and the biosynthetic pathway to these bacterial metabolites has been elucidated. Also the fluorinase gene has been cloned into a host bacterium (Salinispora tropica), and this has enabled the de novo production of a bioactive fluorinated metabolite from fluoride ion, by genetic engineering. Biotechnological manipulation of the fluorinase offers the prospects for the assembly of novel fluorinated metabolites by fermentation technology. This is particularly attractive, given the backdrop that about 15-20% of pharmaceuticals licensed each year (new chemical entities) contain a fluorine atom. Copyright © 2012 Elsevier Inc. All rights reserved.

Multiple Ewing Sarcoma/Primitive Neuroectodermal Tumors in the Mediastinum: A Case Report and Literature Review.

PubMed

Bae, Sung Hwan; Hwang, Jung Hwa; Da Nam, Bo; Kim, Hyun Jo; Kim, Ki-Up; Kim, Dong Won; Choi, In Ho

2016-02-01

Ewing sarcoma/primitive neuroectodermal tumors (ES/PNET) are high-grade malignant neoplasms. These malignancies present very rare tumors of thoracopulmonary area and even rarer in the mediastinum. In our knowledge, ES/PNET presented with multiple mediastinal masses has not been reported previously. We experienced a case of a 42-year-old man presented with gradual onset of left-side pleuritic chest pain. A contrast-enhanced chest computed tomography (CT) scan showed separate 2 large heterogeneously enhancing masses in each anterior and middle mediastinum of the left hemithorax. Positron emission tomography-computed tomography (PET-CT) scan revealed high fluorodeoxyglucose (FDG) uptake in the mediastinal masses. After surgical excision for the mediastinal masses, both of the masses were diagnosed as the ES/PNET group of tumors on the histopathologic examination. The patient refused postoperative adjuvant chemotherapy and came back with local tumor recurrence and distant metastasis on 4-month follow-up after surgical resection. We report this uncommon form of ES/PNET. We are to raise awareness that this rare malignancy should be considered as a differential diagnosis of the malignant mediastinal tumors and which can be manifested as multiple masses in a patient. Understanding this rare entity of extra-skeletal ES/PNET and characteristic imaging findings can help radiologists and clinicians to approach proper diagnosis and better management for this highly malignant tumor.

The management of acute parathyroid crisis secondary to parathyroid carcinoma: a case report.

PubMed

Rock, Kathy; Fattah, Nariman; O'Malley, Diarmuid; McDermott, Enda

2010-01-29

Hypercalcaemic hyperparathyroid crisis is a rare but life-threatening complication of primary hyperparathyroidism. Parathyroid carcinoma is a rare malignancy with an incidence of 0.5% to 4% of all reported cases of primary hyperparathyroidism. We report the case of a 60-year-old Caucasian man with hypercalcaemic hyperparathyroid crisis associated with parathyroid carcinoma. He presented with a classic hypercalcaemic syndrome and his serum calcium and parathyroid hormone levels were at 4.65 mmol/L and 1743 ng/L, respectively. He initially presented with a two-week history of weakness and lethargy and a one-week history of vomiting, polyuria and polydipsia. An emergency left thyroid lobectomy and left lower parathyroidectomy were performed. There was a prompt decrease in his parathyroid hormone level immediately after surgery. Histology revealed that our patient had a 4-cm parathyroid carcinoma. In patients with parathyroid carcinoma, the optimal surgical treatment is en bloc resection with ipsilateral thyroid lobectomy and removal of any enlarged or abnormal lymph nodes. Surgery is the only curative treatment. In our patient, prompt surgical intervention proved successful. At six months the patient is well with no evidence of disease recurrence. This case highlights the importance of considering a hyperparathyroid storm in the context of a parathyroid carcinoma. Parathyroid carcinoma is a rare entity and our knowledge is mainly derived from case reports and retrospective studies. This case report increases awareness of this serious and life-threatening complication. This report also illustrates how prompt and appropriate management provides the best outcome for the patient.

Well-Differentiated Papillary Mesothelioma of the Tunica Vaginalis: A Case Study and Review of the Literature

PubMed Central

Acikalin, Arbil; Zeren, Handan; Gonlusen, Gulfılız; Zorludemir, Suzan; Izol, Volkan

2014-01-01

Well-differentiated papillary mesothelioma is an uncommon tumor of the testes that usually presents as a hydrocele. Here, we present the case of one patient who did not have a history of asbestos exposure. The tumor was localized in the tunica vaginalis and was composed of three pedunculated masses macroscopically. Microscopically, branching papillary structures with focal coagulative necrosis were present. In addition to immunohistochemistry, simian virus 40 DNA was also tested by polymerase chain reaction. This report presents one case of this rare entity, its clinical and macroscopic features, and follow-up results. PMID:25013421

[Toxic shock syndrome].

PubMed

Tyll, T; Bílková, M; Revinová, A; Müller, M; Čurdová, M; Zlámal, M; Holub, M

2015-10-01

The authors present an up-to-date review of toxic shock syndrome (TSS) - a life-threatening condition where toxins of the Gram-positive bacteria Staphyloccocus aureus and Streptococcus pyogenes play a key role in the pathogenesis. The authors provide insight into the epidemiology and pathogenesis of the disease and point out the relevant patient history data and clinical signs and symptoms that may indicate progression of TSS. Last but not least, the state of the art diagnostic and therapeutic approaches to early and full blown TSS are summarized. Case reports are presented to illustrate two different etiological forms of this relatively rare nosological entity.

Early detection of congenital syphilis.

PubMed

Chowdhary, Nagalakshmi; Rani, Bs Kavya; Mukunda, K S; Kiran, N K

2014-01-01

Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson's teeth.

Multidetector computed tomography diagnosis of gastric volvulus through the foramen of Morgagni.

PubMed

Lecouvet, S; Coulier, B; Pierard, F; Gogoase, M; Coppens, J P; Van Hoof, M

2014-01-01

Morgagni hernia is considered to be the rarest form of all diaphragmatic hernias. It develops through a congenital defect in the retrosternal area. Usually asymptomatic, this entity can lead to life-threatening complications such as incarceration, strangulation or volvulus of the herniated viscus. We hereby report a rare case of organoaxial gastric volvulus producing through the foramen of Morgagni in a 78-year-old woman. The full diagnosis was made by upper gastro-intestinal series and multidetector computed tomography (MDCT). The basic anatomy, physiopathology, diagnostic methods, complications and surgical treatment of Morgagni hernia are briefly reviewed.

Heterotaxy syndrome with severe pulmonary hypertension in an adult.

PubMed

Brandenburg, Vincent M; Krueger, Stefan; Haage, Patrick; Mertens, Peter; Riehl, Jochen

2002-05-01

Heterotaxy syndrome is a rare clinical entity in adults, characterized by situs ambiguus, congenital heart defects, and splenic malformations. We report the case of an adult with heterotaxy syndrome (including situs ambiguus, bilateral superior vena cava, hypoplastic right-sided spleen and portosystemic shunts) presenting with dyspnea due to severe pulmonary hypertension. Vasodilatory therapy was initiated, leading to marked reduction of clinical symptoms. This case exhibits 2 particular and partially novel features: primary diagnosis of heterotaxy syndrome may be delayed until adulthood, and heterotaxy syndrome may be associated with pulmonary hypertension, possibly on the basis of longstanding portosystemic shunts.

Intramedullary spinal immature teratoma: resolution of quadriplegia following resection in a 4-week-old infant.

PubMed

Nickols, Hilary Highfield; Chambless, Lola B; Carson, Robert P; Coffin, Cheryl M; Pearson, Matthew M; Abel, Ty W

2010-12-01

Intramedullary spinal cord teratomas are rare entities in infants. Management of these lesions is primarily surgical, with outcome dependent on rapid surgical decompression and complete gross-total tumor resection. The lesions are typically of the mature type, with immature teratomas displaying unique pathological features. The authors report a case of an extensive intramedullary immature teratoma in an infant with resolution of quadriplegia following gross-total radical resection. At the 1-year follow-up, there was radiographic evidence of tumor, and surgical reexploration yielded portions of immature teratoma and extensive gliosis.

Solitary fibular metastasis from nonsmall cell lung carcinoma

PubMed Central

Akram, Mohammad; Zaheer, Samreen; Hussain, Asif; Siddiqui, Shahid A; Afrose, Ruquiya; Khalid, Saifullah

2017-01-01

Solitary bone metastasis to fibula in patients of lung carcinoma is a rare entity, with only four cases reported in literature. We, hereby, present a case of a 50 year-old-male who was given three cycles of chemotherapy for lung carcinoma with no distant metastasis but presented 2 months later with a fusiform, painful swelling around the knee that was clinically suspected to be inflammatory in nature but proved to be fibular metastasis on cytology. There was no evidence of skeletal metastasis on initial bone scan. He was given palliative radiotherapy for this with symptomatic relief. PMID:28469322

Solitary fibular metastasis from nonsmall cell lung carcinoma.

PubMed

Akram, Mohammad; Zaheer, Samreen; Hussain, Asif; Siddiqui, Shahid A; Afrose, Ruquiya; Khalid, Saifullah

2017-01-01

Solitary bone metastasis to fibula in patients of lung carcinoma is a rare entity, with only four cases reported in literature. We, hereby, present a case of a 50 year-old-male who was given three cycles of chemotherapy for lung carcinoma with no distant metastasis but presented 2 months later with a fusiform, painful swelling around the knee that was clinically suspected to be inflammatory in nature but proved to be fibular metastasis on cytology. There was no evidence of skeletal metastasis on initial bone scan. He was given palliative radiotherapy for this with symptomatic relief.

STA-ACA bypass using the ipsilateral free STA graft as an interposition graft and A3-A3 anastomosis for treatment of bilateral ACA steno-occlusive ischemia.

PubMed

Horiuchi, Tetsuyoshi; Ichinose, Shunsuke; Agata, Masahiro; Ito, Kiyoshi; Hongo, Kazuhiro

2018-04-01

Anterior cerebral artery (ACA)-related ischemia is a rare entity in patients with atherosclerosis. Some surgical treatments are reported to date. We present the modification of intracranial-intracranial and intracranial-extracranial bypasses for symptomatic bilateral ACA steno-occlusive disease. The A3-A3 bypass followed by the superficial temporal artery-ACA bypass using the ipsilateral free superficial temporal artery graft is useful without harvesting of the radial artery. Bilateral ACA steno-occlusive induced ischemia can be treated with tailored bypass procedures.

MRI appearance of massive renal replacement lipomatosis in the absence of renal calculus disease

PubMed Central

Fitzgerald, E; Melamed, J; Taneja, S S; Rosenkrantz, A B

2011-01-01

Renal replacement lipomatosis is a rare benign entity in which extensive fibrofatty proliferation of the renal sinus is associated with marked renal atrophy. In this report, we present a case of massive renal replacement lipomatosis demonstrated on MRI. The presentation was atypical given an absence of associated renal calculus disease, and an initial CT scan was interpreted as suspicious for a liposarcoma. The differential diagnosis and key MRI findings that served to establish this specific diagnosis are reviewed. Histopathological correlation is also presented, as the patient underwent nephroureterectomy. PMID:21257835

Telangiectatic osteosarcoma of the spine: a case report.

PubMed

Amritanand, R; Venkatesh, K; Cherian, R; Shah, A; Sundararaj, G D

2008-09-01

Telangiectatic osteosarcoma (TOS) of the spine is rare accounting for only 0.08% of all primary osteosarcomas. Though a well described radio-pathological entity it is not often thought of as a cause of paraplegia. We describe the clinical, radiological and pathological features and discuss the treatment options of telangiectatic osteosarcoma of the dorsal spine presenting in a young man. The diagnostic pitfalls are discussed emphasising the fact that the diagnosis of TOS of the spine requires not only a multi modal approach of appropriate radiological and pathological tests but also an awareness of this condition.

Telangiectatic osteosarcoma of the spine: a case report

PubMed Central

Venkatesh, K.; Cherian, R.; Shah, A.; Sundararaj, G. D.

2008-01-01

Telangiectatic osteosarcoma (TOS) of the spine is rare accounting for only 0.08% of all primary osteosarcomas. Though a well described radio-pathological entity it is not often thought of as a cause of paraplegia. We describe the clinical, radiological and pathological features and discuss the treatment options of telangiectatic osteosarcoma of the dorsal spine presenting in a young man. The diagnostic pitfalls are discussed emphasising the fact that the diagnosis of TOS of the spine requires not only a multi modal approach of appropriate radiological and pathological tests but also an awareness of this condition. PMID:18421481

Intraosseous venous malformation of the zygomatico-orbital complex. Case report and literature review with focus on confusions in vascular lesion terms.

PubMed

Fábián, Zoltán; Szabó, György; Petrovan, Cecilia; Horváth, Karin Ursula; Babicsák, Botond; Hüttl, Kálmán; Németh, Zsolt; Bogdán, Sándor

2018-06-01

Intraosseous vascular malformations (VascM) of the facial skeleton are rare entities, raising difficulties even today in their treatment. We present a case for zygomatic intraosseous venous malformation of traumatic etiology with growth dynamics presentation and a multidisciplinary treatment approach, with intravascular embolization surgical ablation and primary reconstructruction using a titanium patient-specific implant (PSI), and a review of the literature for intraosseous vascular lesions of the facial skeleton focusing on the diagnostic syntagms used by the involved medical personnel, to shed light on the confusions over these terms.

Cryptococcal osteomyelitis: a report of 5 cases and a review of the recent literature.

PubMed

Medaris, Leigh Ann; Ponce, Brent; Hyde, Zane; Delgado, Dennis; Ennis, David; Lapidus, William; Larrison, Matthew; Pappas, Peter G

2016-06-01

Cryptococcus neoformans is a fungal pathogen associated with advanced HIV disease and other disorders associated with immune dysfunction. The pulmonary and the central nervous system are the most common manifestations of the disease. Localised osteomyelitis as the sole manifestation of extrapulmonary disease is rare. Herein, we present five cases of Cryptococcus osteomyelitis as the only manifestation of extrapulmonary disease. We also identified 84 additional cases of isolated cryptococcal osteomyelitis in the literature. Using these data, we have made some general recommendations regarding an approach to treatment of this uncommon clinical entity. © 2016 Blackwell Verlag GmbH.

Large Lipomatous Hypertrophy of the Interventricular Septum

PubMed Central

Ak, Koray; Isbir, Selim; Kepez, Alper; Turkoz, Kemal; Elci, Emre; Arsan, Sinan

2014-01-01

We present the case of a 58-year-old woman who had large lipomatous hypertrophy of the interventricular septum, a condition that is reported very infrequently. Preoperative cardiac magnetic resonance images revealed an inhomogeneous, infiltrating mass that was suppressed in fat-suppression mode. The extensive mass was causing right ventricular dysfunction, so we excised it through a right ventricular approach. The findings on histologic analysis of the mass were consistent with lipomatous hypertrophy. The patient died of septic shock on the 28th postoperative day. In addition to the patient's case, we discuss the characteristics and diagnosis of this rare entity. PMID:24808791

Spontaneous biliary perforation in an infant: an unusual chronic presentation.

PubMed

Vijay, Babu Balakrishnan; Kumar, Rakesh; Gupta, Devendra K; Ragavan, Muniswamy; Mohapatra, Tushar; Dhanpathi, Halanaik; Sharma, Sanjay; Malhotra, Arun

2008-04-01

Spontaneous perforation of the biliary ducts is a rare disorder in infants. Early diagnosis of this entity is important because it can be treated surgically. We report on a 4-month-old child presenting with jaundice and progressive abdominal distention present since birth. Hepatobiliary scintigraphy, which was done to rule out any obstructive pathology, showed a biliary leak from the porta hepatis region leading to biliary ascites and bilateral hydroceles. Surgical exploration and intraoperative cholangiogram confirmed cystic duct perforation. Cholecystectomy and inguinal herniorrhaphy were performed. Follow-up hepatobiliary scintigraphy demonstrated complete resolution of the bile leak and hydroceles.

[Inherited primitive and secondary polycythemia].

PubMed

Barba, T; Boileau, J-C; Pasquet, F; Hot, A; Pavic, M

2016-07-01

Myeloproliferative disorders and secondary polycythemia cover most of the polycythemia cases encountered in daily practice. Inherited polycythemias are rare entities that have to be suspected when the classical causes of acquired polycythemia have been ruled out. Recent advances were made in the understanding of these pathologies, which are still little known to the physicians. This review reports the state of knowledge and proposes an algorithm to follow when confronted to a possible case of inherited polycythemia. Copyright © 2015 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Pigmented extramammary Paget’s disease of the axilla mimicking melanoma: case report and review of the literature

PubMed Central

Hilliard, Nicholaus J; Huang, Conway; Andea, Aleodor

2010-01-01

Pigmented Paget’s disease is a rare variant which is often confused clinically and histologically with melanoma in situ. Herein, we describe a case of pigmented extramammary Paget’s disease involving the axilla of a 79 year old white male thought initially to represent malignant melanoma clinically and histologically. Review of the literature reveals that pigmented variant of Paget’s disease, either mammary or extramammary, could be initially misdiagnosed as melanoma unless this entity is considered in the differential diagnosis and additional confirmatory studies are performed. PMID:19674203

Pleuroparenchymal fibroelastosis: is it also an idiopathic entity?

PubMed

Portillo, Karina; Guasch Arriaga, Ignasi; Ruiz-Manzano, Juan

2015-10-01

Pleuroparenchymal fibroelastosis (PPFE) is a rare disease that has been recently included in the updated consensus on idiopathic interstitial pneumonias. It shares some clinical features with other chronic interstitial pneumonias (dyspnea, dry cough), and is radiologically characterized by pleural and subpleural parenchymal fibrosis and elastosis, mainly in the upper lobes. The main histological findings include pleural fibrosis and prominent subpleural and parenchymal fibroelastosis. Its characterization is based on the increasing number of cases reported in the literature, so several aspects of the etiology, pathogenesis and natural history are still unknown. Although some cases have been described as idiopathic, PPFE has been reported as a complication after bone marrow transplantation, lung transplantation and chemotherapy, especially with alkylating agents.Spontaneous or iatrogenic pneumothorax is a frequently reported complication of invasive diagnostic tests for identifying PPFE. The disease course is variable, ranging from slow progression to rapid clinical deterioration. No treatment has shown evidence of efficacy, and lung transplantation remains the only option for patients who fulfill the diagnostic criteria for this option. Recognizing and disseminating the specific features of PPFE is essential to raise the level of clinical suspicion for this entity, and to implement appropriate multidisciplinary diagnostic management. Copyright © 2015 SEPAR. Published by Elsevier Espana. All rights reserved.

Isolated unilateral temporalis muscle hypertrophy in a child: a case report with literature review.

PubMed

Ranasinghe, Jagath C; Wickramasinghe, Chandani; Rodrigo, Ganganath

2018-02-19

Temporalis muscle hypertrophy is a rare entity of masticatory muscle hypertrophy. All types of masticatory muscle hypertrophies have been documented of which temporalis muscle hypertrophy is one. Temporalis muscle hypertrophy is most commonly bilateral and usually associated with other types of masticatory muscles hypertrophy such as masseter or pterygoid hypertrophy. However, isolated unilateral temporalis muscle hypertrophy is extremely rare and only 9 cases have been reported to date in English literature since 1990 with only two patients less than 18 years. There is no exact etiology identified and the diagnosis is made by muscle biopsy combined with imaging study to exclude other possibilities. Age at presentation is ranges from 15 to 65 years with involvement of both sexes. We report the youngest child who is a seven year old girl with right side isolated unilateral temporalis muscle hypertrophy. In this patient, we discuss the youngest child with isolated unilateral temporalis muscle hypertrophy and literature review to date. The patient is a seven year old female presenting with painless swelling of the right temporalis muscle. There had no features of inflammation, trauma, neoplasm or history of parafunctions such as bruxism. The child was not complaining significantly headache or visual disturbances as well. She had undergone radiological assessment with ultrasound scan and contrast MRI. The diagnosis was confirmed by muscle biopsy which shows normal muscle architecture. She was managed conservatively with regular follow up. Isolated unilateral temporalis muscle hypertrophy is extremely rare in children. However this case raises the importance of considering alternative diagnoses despite the condition being rare in the pediatric population.

An unusual case of concurrent insulinoma and nesidioblastosis.

PubMed

Bright, Elizabeth; Garcea, Giuseppe; Ong, Seok L; Madira, Webster; Berry, David P; Dennison, Ashley R

2008-09-02

Endogenous hyperinsulinaemic hypoglycaemia in adults is most commonly caused by an insulinoma. Adult nesidioblastosis is rarely reported. To the best of our knowledge the presence of both insulinoma and nesidioblastosis has not been reported before. We report a case of a 35-year-old female presenting with neuroglycaemic symptoms. A supervised 72-hour fast confirmed hypoglycaemia in the presence of hyperinsulinaemia. Thorough pre-operative biochemical and radiological investigations, including selective splenic, superior mesenteric and portal venous sampling inferred a tentative diagnosis of adult nesidioblastosis. However, a grossly elevated insulin level within the splenic vein on a second set of venous sampling produced a high index of suspicion for the presence of an insulinoma. At surgical exploration both an insulinoma and nesidioblastosis were identified and confirmed by histological examination. We report an even rarer entity of concurrent insulinoma and nesidioblastosis.

The NCGC Pharmaceutical Collection: A comprehensive resource of clinically approved drugs enabling repurposing and chemical genomics

PubMed Central

Huang, Ruili; Southall, Noel; Wang, Yuhong; Yasgar, Adam; Shinn, Paul; Jadhav, Ajit; Nguyen, Dac-Trung; Austin, Christopher P.

2011-01-01

Small-molecule compounds approved for use as drugs may be “repurposed” for new indications and studied to determine the mechanisms of their beneficial and adverse effects. A comprehensive collection of all small-molecule drugs approved for human use would be invaluable for systematic repurposing across human diseases, particularly for rare and neglected diseases, for which the cost and time required for development of a new chemical entity are often prohibitive. Previous efforts to build such a comprehensive collection have been limited by the complexities, redundancies, and semantic inconsistencies of drug naming within and among regulatory agencies worldwide; a lack of clear conceptualization of what constitutes a drug; and a lack of access to physical samples. We report here the creation of a definitive, complete, and nonredundant list of all approved molecular entities as a freely available electronic resource and a physical collection of small molecules amenable to high-throughput screening. PMID:21525397

The fourth branchial complex anomaly: a rare clinical entity.

PubMed

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

PubMed Central

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies. PMID:22937376

Development of Grave's disease seven months after Hashimoto's thyroiditis: a rare occurrence.

PubMed

Bravo-Llerena, Wilfredo Eddy; Valderrabano-Wagner, Rodrigo J; Quevedo-Quevedo, Juan; Reyes-Ortiz, Luis M

2010-01-01

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are two opposite poles in the spectrum of autoimmune thyroid disease. On one extreme, HT or Chronic Lymphocytic thyroiditis (CLT) courses, as its name implies, with lymphocytic infiltrates replacing thyroid follicles, resulting in a loss of hormone-producing cells and, thus, primary hypothyroidism. On the other extreme, GD is characterized by primary hyperthyroidism due to stimulating autoantibodies against thyroid-stimulating hormone receptors (TSHRs) localized on thyrocytes' membranes of intact thyroid follicles. The presence of HT after GD or the concomitant combination of these two autoimmune entities ending in HT-depending hypothyroid state is well known. However, occurrence of GD after primary hypothyroidism due to CLT is very rare since thyrocytes with their TSHRs are promptly lost. We report a case in which hyperthyroidism occurred seven months after presentation of primary hypothyroidism and discuss potential mechanisms involved.

Spontaneous rupture of a giant non parasitic hepatic cyst presenting as an acute surgical abdomen.

PubMed

Salemis, Nikolaos S; Georgoulis, Epameinondas; Gourgiotis, Stavros; Tsohataridis, Efstathios

2007-01-01

Spontaneous rupture of a non parasitic hepatic cyst is an extremely rare occurrence. A 50 -year- old male, was admitted with typical clinical manifestations of acute surgical abdomen. At exploratory laparotomy, a giant ruptured non parasitic cyst occupying the entire left liver lobe was found, along with a large amount of free intraperitoneal fluid. The cyst was widely unroofed very close to the liver parenchyma. The patient had an uneventful postoperative course and was discharged six days later. The clinical presentation, diagnostic evaluation and surgical management of this extremely rare clinical entity are discussed, along with a review of the literature. This case, which according to our best knowledge is the fourth reported in the literature, highlights the considerable risk of serious complications associated with the presence of a large symptomatic nonparasitic hepatic cyst. Prophylactic treatment should be considered in all these cases.

[Kindler syndrome: clinical and ultra-structural particularities, a propos of three cases].

PubMed

El Fekih, Nadia; Mahfoudh, Anis; Zekri, Samy; Kharfi, Monia; Fazaa, Bécima; Jaafoura, Mohamed Habib; Kamoun, Mohamed Ridha

2011-08-01

Kindler's syndrome is a rare type of genetic skin condition belonging to the class of bullous poikilodermia. We report three new sibling cases of this rare syndrome. The condition was seen in three sisters aged 12, 16 and 20 years, born of a first-degree consanguineous marriage with no family history of Kindler's syndrome. The three patients presented spontaneously regressive bullous eruptions, poikilodermia of gradual onset, major cutaneous atrophy on the back of the hands and the feet, photosensitivity and gingival hypertrophy. Electron microscopy examination of poikilodermic skin showed normal anchoring filaments and intraepidermal cleavage. Diagnosis of Kindler's syndrome is based upon clinical evidence. Kidler's syndrome is a well defined clinical entity. Ultra-structural studies show intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and other bullous hereditary poikilodermas. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Primary Vaginal Calculus in a Woman with Disability: Case Report and Literature Review.

PubMed

Castellan, Pietro; Nicolai, Michele; De Francesco, Piergustavo; Di Tizio, Luciano; Castellucci, Roberto; Bada, Maida; Marchioni, Michele; Cindolo, Luca; Schips, Luigi

2017-01-01

Background: Vaginal stones are rare and often unknown entities. Most urologists may never see a case in their careers. Case Presentation: We present the case of a 34-year-old bedridden Caucasian woman with mental and physical disabilities who presented with a large primary vaginal calculus, which, surprisingly, had remained undiagnosed until the patient suffered a right renal colic caused by a ureteral stone. The vagina was completely filled and a digital examination was not possible. For this reason, the stone was removed using surgical pliers with some maneuvering. A vesicovaginal fistula was excluded, as well as foreign bodies or other nidi of infection. After, urethral lithotripsy was performed as planned. The postoperative course and follow-up were uneventful. Conclusion: Although vaginal calculi are extremely rare in literature, their differential diagnosis should be considered in women with incontinence and associated disabilities, paraplegia, or prolonged immobilization in recumbent position.

Cushing's disease due to mixed pituitary adenoma-gangliocytoma of the posterior pituitary gland presenting with Aspergillus sp. sinus infection.

PubMed

Bridenstine, Mark; Kerr, Janice M; Lillehei, Kevin O; Kleinschmidt-DeMasters, Bette K

2013-01-01

Gangliocytic lesions of the pituitary gland producing Cushing's disease are extremely rare entities that may exist with or without a pituitary adenoma. The latter have been designated mixed pituitary adenoma-gangliocytomas, the majority of which produce growth hormone, not adrenocorticotropin (ACTH), and are localized to the anterior gland. We now report an immunocompetent woman with hypercortisolism who presented with an intranasal aspergilloma eroding the bony sellar floor. The fungal ball was contiguous with, and extended into, a large neurohypophyseal-centered mass. Transsphenoidal resection revealed a gangliocytic lesion of the posterior gland with small clusters of intimately admixed ACTH-immunoreactive adenoma cells as the cause of her Cushing's disease. Rare transitional sizes and shapes of cells coupled with immunohistochemical findings supported interpretation as advanced neuronal metaplasia within an ACTH adenoma. This mixed ACTH adenoma-gangliocytoma is the first example to present clinically with an opportunistic infection.

Early lesion of palisaded neutrophilic granulomatous dermatitis in ulcerative colitis.

PubMed

Asahina, Akihiko; Fujita, Hideki; Fukunaga, Yuki; Kenmochi, Yasuko; Ikenaka, Tatsuo; Mitomi, Hiroyuki

2007-01-01

Palisaded neutrophilic granulomatous dermatitis (PNGD) is a rare clinical entity of unknown cause. It often coexists with various autoimmune or immunoreactive systemic diseases, and thus it has been reported under multiple names. We describe a patient with quiescent ulcerative colitis, who presented with recurrent small tender papules, nodules and erythematous plaques, located mainly on her hands, together with finger swelling and polyarthralgia. The histopathologic picture indicated an early stage of PNGD with focal degeneration of collagen fibers but without distinct granuloma formation. The differentiation from neutrophilic dermatoses was necessary because of dense and diffuse infiltration of neutrophils with leukocytoclastic debris throughout the dermis, and the association of ulcerative colitis. Dapsone monotherapy was effective in improving the clinical symptoms. PNGD is only rarely associated with ulcerative colitis, and this case suggests that the concept of PNGD, especially in its early stages, might be considered in the wide spectrum of neutrophilic dermatoses.

Syndrome of remitting seronegative symmetrical synovitis with pitting edema: a case series.

PubMed

Varshney, A N; Singh, N K

2015-01-01

Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) is a rare clinical entity that is easily missed due to lack of knowledge. It was formerly considered as a subset of rheumatoid arthritis (RA), but is now regarded as a distinct disease/syndrome. The diagnosis of RS3PE is not easy, as it is always hindered by the lack of definite diagnostic criteria and presence of other much common rheumatological disorders that mimic it. We report a series of seven cases that attended our clinic in the last year, which highlight the salient features of the disease. The disease was found to have a heterogeneous presentation. Immunogenetic, clinical, laboratory, radiological, and possible etiological factors and associations with the neoplasm are described, as also other peculiar presentations. Finally, a comparison with other common rheumatological disorders is made to alert the clinician about this rare, but easily treatable disease.

Renal Clear Cell Sarcoma - Anaplastic Variant: A Rare Entity.

PubMed

Walke, Vaishali Atmaram; Shende, Nitin Y; Kumbhalkar, D T

2017-01-01

Clear Cell Sarcoma of Kidney (CCSK) is known for its morphologic diversity, aggressive behaviour, tendency to recur and metastasis to bone. Amongst the various morphologic subtypes, anaplastic CCSK is associated with worse prognosis. Here, we report a case of this rare variant of CCSK. A five-year-old boy presented with history of lump and pain in abdomen since one week. The Computed Tomography (CT) scan revealed a large mass occupying the middle and inferior pole of right kidney. The clinical impression was Wilms tumour. Nephrectomy specimen was received and the diagnosis of CCSK anaplastic variant was offered only after excluding the differentials and after performing ancillary tests such as Immunohistochemistry (IHC). Thus, this case emphasizes the diagnostic challenges on morphology and the essential role of IHC in arriving at a definitive diagnosis, because failure to do so may deprive the child from optimal treatment.

Renal Clear Cell Sarcoma - Anaplastic Variant: A Rare Entity

PubMed Central

Shende, Nitin Y; Kumbhalkar, D T

2017-01-01

Clear Cell Sarcoma of Kidney (CCSK) is known for its morphologic diversity, aggressive behaviour, tendency to recur and metastasis to bone. Amongst the various morphologic subtypes, anaplastic CCSK is associated with worse prognosis. Here, we report a case of this rare variant of CCSK. A five-year-old boy presented with history of lump and pain in abdomen since one week. The Computed Tomography (CT) scan revealed a large mass occupying the middle and inferior pole of right kidney. The clinical impression was Wilms tumour. Nephrectomy specimen was received and the diagnosis of CCSK anaplastic variant was offered only after excluding the differentials and after performing ancillary tests such as Immunohistochemistry (IHC). Thus, this case emphasizes the diagnostic challenges on morphology and the essential role of IHC in arriving at a definitive diagnosis, because failure to do so may deprive the child from optimal treatment. PMID:28273978

Syndrome of remitting seronegative symmetrical synovitis with pitting edema: A case series

PubMed Central

Varshney, AN; Singh, NK

2015-01-01

Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) is a rare clinical entity that is easily missed due to lack of knowledge. It was formerly considered as a subset of rheumatoid arthritis (RA), but is now regarded as a distinct disease/syndrome. The diagnosis of RS3PE is not easy, as it is always hindered by the lack of definite diagnostic criteria and presence of other much common rheumatological disorders that mimic it. We report a series of seven cases that attended our clinic in the last year, which highlight the salient features of the disease. The disease was found to have a heterogeneous presentation. Immunogenetic, clinical, laboratory, radiological, and possible etiological factors and associations with the neoplasm are described, as also other peculiar presentations. Finally, a comparison with other common rheumatological disorders is made to alert the clinician about this rare, but easily treatable disease. PMID:25511217

Novel Development of Remitting Seronegative Symmetrical Synovitis with Pitting Edema (RS3PE) Syndrome due to Insulin Therapy.

PubMed

Mainali, Naba Raj; Schmidt, Torrey R; Alweis, Richard; George, David L

2014-01-01

Male, 67 FINAL DIAGNOSIS: Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome Symptoms: Bilateral wrist swelling Medication: - Clinical Procedure: - Specialty: Rheumatology. Unusual or unexpected effect of treatment. Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome is a rare clinical entity characterized by the sudden onset of inflammatory arthritis and marked pitting edema on upper and lower extremities. RS3PE is considered a rheumatic process distinct from rheumatoid arthritis, which may occasionally represent a paraneoplastic syndrome. Herein, we describe a rare case of RS3PE associated with insulin therapy in a patient with no evidence of underlying malignancy. To the best of our knowledge, this is the first case report of RS3PE associated with insulin therapy. Physicians should look at the introduction of drugs as possible triggers for the development of RS3PE.

Coexistence of amelanotic melanoma and liposarcoma.

PubMed

Jeong, Taek Jo; Lee, Eun Ju; Haw, Sik; Shin, Min Kyung; Haw, Choong Rim

2009-11-01

An amelanotic malignant melanoma is characterized by little or no pigment. It is frequently misdiagnosed because it is a rare entity in general, and because of its unusual clinical features. Liposarcoma is one of the most common adult soft tissue sarcomas. We encountered a case of amelanotic melanoma with a concurrent liposarcoma. A 68-year-old man presented with a single, 1.5x1.5 cm round erythematous, eroded nodule on the left heel. A biopsy specimen showed atypical, pleomorphic tumor cells with little melanin pigment. The tumor cells were positive for S-100, HMB-45 and negative for cytokeratins. These findings were consistent with amelanotic melanoma. On positron emission tomography/computed tomography (PET/CT), a hypermetabolic lesion was found in the left buttock. This lesion was excised and diagnosed as a well-differentiated liposarcoma. An association between sarcomas and other primary malignancies has been reported. However, an association between melanoma and liposarcoma is rare.

Primary intimal sarcoma of the left atrium presenting with constitutional symptoms

PubMed Central

Ferreira, António; Felgueiras, Paula; Silva, Augusta; Ribeiro, Carlos; Guerra, Diana; de Melo, Daniel Pereira; Manuel Lopes, José

2017-01-01

Abstract Intimal (spindle-cell) sarcomas are exceptionally rare and are highly aggressive cardiac tumors. The authors describe a case of a 43-year-old female, presenting with a 3-month history of constitutional symptoms with fever, night sweats, anorexia and weight loss, associated with productive cough and pleural effusion that was admitted with clinical suspicion of pulmonary tuberculosis. The patient developed sudden acute heart failure symptoms during hospitalization, leading to mechanical ventilation. Computed tomography scan with contrast showed a cardiac tumor filling the left atrium causing compression of pulmonary veins. Surgical resection was performed and histologic examination revealed an intimal sarcoma. Although commenced on adjuvant chemotherapy, local tumor recurrence occurred with pericardium invasion. The patient died within 4 months of initial diagnosis. This report aims to describe an unusual presentation of this rare disease entity, and to discuss its highly aggressive clinical course. PMID:28694971

Subungual and periungual congenital blue naevus.

PubMed

Gershtenson, Platina Coy; Krunic, Aleksandar; Chen, Helen; Konanahalli, Madhuri; Worobec, Sophie

2009-05-01

Subungual pigmented lesions should raise concern about malignant melanoma. Blue naevus of the nail apparatus is a rare entity, with only ten cases described in the literature. We report a 21-year-old Hispanic woman with a slowly enlarging 1.7 x 2.3-cm subungual and periungual pigmented plaque present since birth on her right second toe. Initial biopsy was consistent with a blue naevus of the cellular type and, given the recent clinical change and periungual extension, complete excision was recommended. The entire nail unit was resected down to periosteum with prior avulsion of the nail plate. Reconstruction was performed with a full-thickness skin graft. Follow up at 1 year revealed well-healed graft and donor sites with complete return of function. We present a case of a congenital subungual and periungual blue naevus of the cellular type and review the literature on this rare presentation of a congenital blue naevus.

New tumor entities in the 4th edition of the World Health Organization classification of head and neck tumors: Nasal cavity, paranasal sinuses and skull base.

PubMed

Thompson, Lester D R; Franchi, Alessandro

2018-03-01

The World Health Organization recently published the 4th edition of the Classification of Head and Neck Tumors, including several new entities, emerging entities, and significant updates to the classification and characterization of tumor and tumor-like lesions, specifically as it relates to nasal cavity, paranasal sinuses, and skull base in this overview. Of note, three new entities (NUT carcinoma, seromucinous hamartoma, biphenotypic sinonasal sarcoma,) were added to this section, while emerging entities (SMARCB1-deficient carcinoma and HPV-related carcinoma with adenoid cystic-like features) and several tumor-like entities (respiratory epithelial adenomatoid hamartoma, chondromesenchymal hamartoma) were included as provisional diagnoses or discussed in the setting of the differential diagnosis. The sinonasal tract houses a significant diversity of entities, but interestingly, the total number of entities has been significantly reduced by excluding tumor types if they did not occur exclusively or predominantly at this site or if they are discussed in detail elsewhere in the book. Refinements to nomenclature and criteria were provided to sinonasal papilloma, borderline soft tissue tumors, and neuroendocrine neoplasms. Overall, the new WHO classification reflects the state of current understanding for many relatively rare neoplasms, with this article highlighting the most significant changes.

Recurrent subcutaneous trunk leiomyosarcoma: Management and review of the literature.

PubMed

Salemis, Nikolaos S

2013-01-01

Superficial leiomyosarcomas are rare malignant smooth-muscle tumors accounting for 4-6.5% of all soft-tissue sarcomas, less than 2-3% of cutaneous soft-tissue neoplasms and 0.04% of all cancers. They are divided into cutaneous or dermal and subcutaneous leiomyosarcomas. Subcutaneous tumors have been reported to be associated with an increased risk of local recurrences and distant metastases, compared to their cutaneous counterparts. In this study, we describe a rare case of a recurrent subcutaneous trunk leiomyosarcoma in a 68-year-old male patient. Local recurrence developed two years after the complete surgical resection with wide margins and adjuvant postoperative radiotherapy. The management of the patient is discussed along with a review of the literature. We conclude that subcutaneous leiomyosarcoma is a rare clinical entity which may be associated with an atypical clinical presentation. Physicians should be aware of the misleading features of this tumor in order to avoid delay in diagnosis and treatment. Early complete surgical resection with wide margins of at least 2 cm is the cornerstone of treatment and has been reported to mostly influence the prognosis. However, the tumor has a high tendency to recur locally and metastasize. Recurrence may develop despite wide resection and radiotherapy. Long-term follow-up is mandatory.

Recurrent subcutaneous trunk leiomyosarcoma: Management and review of the literature

PubMed Central

Salemis, Nikolaos S.

2013-01-01

Superficial leiomyosarcomas are rare malignant smooth-muscle tumors accounting for 4-6.5% of all soft-tissue sarcomas, less than 2-3% of cutaneous soft-tissue neoplasms and 0.04% of all cancers. They are divided into cutaneous or dermal and subcutaneous leiomyosarcomas. Subcutaneous tumors have been reported to be associated with an increased risk of local recurrences and distant metastases, compared to their cutaneous counterparts. In this study, we describe a rare case of a recurrent subcutaneous trunk leiomyosarcoma in a 68-year-old male patient. Local recurrence developed two years after the complete surgical resection with wide margins and adjuvant postoperative radiotherapy. The management of the patient is discussed along with a review of the literature. We conclude that subcutaneous leiomyosarcoma is a rare clinical entity which may be associated with an atypical clinical presentation. Physicians should be aware of the misleading features of this tumor in order to avoid delay in diagnosis and treatment. Early complete surgical resection with wide margins of at least 2 cm is the cornerstone of treatment and has been reported to mostly influence the prognosis. However, the tumor has a high tendency to recur locally and metastasize. Recurrence may develop despite wide resection and radiotherapy. Long-term follow-up is mandatory. PMID:23633873

Sinonasal Globular Amyloidosis Simulating Malignancy: A Rare Presentation.

PubMed

Kumar, Binay; Pant, Bhawna; Kumar, Vikrant; Negi, Meghna

2016-09-01

Primary localized amyloidosis in the head and neck region is a rare entity. The most commonly involved organ is larynx. Primary amyloidosis localized to the sinonasal tract is extremely rare. We report one such case along with a brief review of the associated literature. The aim of reporting this case is to emphasize the fact that sometimes nasal amyloidosis can also present with signs and symptoms of nasal and nasopharyngeal malignancy. The definitive diagnosis in such cases depends upon histopathology and further confirmed by immunohistochemistry. A 55-year old male presented with recurrent episodes of nasal bleed, bilateral nasal obstruction, and bilateral hearing loss from last 7 years. On clinical examination a mass was found in the nasal cavity on both sides reaching up to the nasopharynx. Contrast enhanced CT scan revealed that the mass was extending up to the skull base and destroying bony landmarks of the nasal cavity and paranasal sinuses. Mass was proved to be amyloidosis after histopathological examination. It showed multiple blotches of globular submucosal deposit of amyloid, on staining with Congo red. Immunohistochemistry confirmed AL amyloidosis with expression of mixed kappa and lambda light chain immunoglobulin (κ > λ). No evidence of systemic amyloidosis was found after proper work up. It was managed by conservative surgery.

Intraepidermal Merkel cell carcinoma: A case series of a rare entity with clinical follow up.

PubMed

Jour, George; Aung, Phyu P; Rozas-Muñoz, Eduardo; Curry, Johnathan L; Prieto, Victor; Ivan, Doina

2017-08-01

Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC typically involves dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have other associated lesions, such as squamous or basal cell carcinoma, actinic keratosis and so on. Herein, we describe 3 patients with MCC strictly in situ, without a dermal component. Our patients were elderly. 2 of the lesions involved the head and neck area and 1 was on a finger. All tumors were strictly intraepidermal in the diagnostic biopsies, and had histomorphologic features and an immunohistochemical profile supporting the diagnosis of MCC. Excisional biopsies were performed in 2 cases and failed to reveal dermal involvement by MCC or other associated malignancies. Our findings raise the awareness that MCC strictly in situ does exist and it should be included in the differential diagnosis of Paget's or extramammary Paget's disease, pagetoid squamous cell carcinoma, melanoma and other neoplasms that typically show histologically pagetoid extension of neoplastic cells. Considering the limited number of cases reported to date, the diagnosis of isolated MCCIS should not warrant a change in management from the typical MCC. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Multiple schwannomas of the upper limb related exclusively to the ulnar nerve in a patient with segmental schwannomatosis.

PubMed

Molina, Alexandra R; Chatterton, Benjamin D; Kalson, Nicholas S; Fallowfield, Mary E; Khandwala, Asit R

2013-12-01

Schwannomas are benign encapsulated tumours arising from the sheaths of peripheral nerves. They present as slowly enlarging solitary lumps, which may cause neurological defects. Multiple lesions are rare, but occur in patients with neurofibromatosis type 2 or schwannomatosis. Positive outcomes have been reported for surgical excision in solitary schwannomas. However, the role of surgery in patients with multiple lesions is less clear. The risk of complications such as iatrogenic nerve injury and the high likelihood of disease recurrence mean that surgical intervention should be limited to the prevention of progressive neurological deficit. We report a case of a 45 year old male who presented with multiple enlarging masses in the upper limb and sensory deficit in the distribution of the ulnar nerve. The tumours were found to be related exclusively to the ulnar nerve during surgical exploration and excision, a rare phenomenon. The masses were diagnosed as schwannomas following histopathological analysis, allowing our patient to be diagnosed with the rare entity segmental schwannomatosis. One year post-operatively motor function was normal, but intermittent numbness still occurred. Two further asymptomatic schwannomas developed subsequently and were managed conservatively. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

PubMed

Prontera, Paolo; Garelli, Emanuela; Isidori, Ilenia; Mencarelli, Amedea; Carando, Adriana; Silengo, Margherita Cirillo; Donti, Emilio

2011-11-01

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes. Copyright © 2011 Wiley Periodicals, Inc.

Follicular vitiligo: A report of 8 cases.

PubMed

Gan, Emily Yiping; Cario-André, Muriel; Pain, Catherine; Goussot, Jean-Francois; Taïeb, Alain; Seneschal, Julien; Ezzedine, Khaled

2016-06-01

Follicular vitiligo, a recently proposed new subtype of vitiligo, has primary involvement of the hair follicle melanocytic reservoir. We sought to characterize follicular vitiligo through a case series of 8 patients. Patients with features of follicular vitiligo who were seen at the vitiligo clinic in the National Center for Rare Skin Disorders in Bordeaux, France, were recruited. A retrospective review of case records and clinical photographs was carried out. There were 8 male patients with a mean age of 48 years. All patients reported significant whitening of their body and, in some, scalp hairs before cutaneous depigmentation. Examination revealed classic generalized depigmented lesions of vitiligo and an impressive presence of leukotrichia, not only in the vitiliginous areas, but also in areas with clinically normal-appearing skin. Punch biopsy specimen of the leukotrichia and vitiligo lesions demonstrated loss of melanocytes and precursors in the basal epidermis and hair follicle. This was a cross-sectional study based on a single-center experience. Follicular vitiligo is a distinct entity within the spectrum of vitiligo. This entity may serve as the missing link between alopecia areata and vitiligo, with probable physiopathological similarities between these conditions. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

State and regional tools for coordinating housing and transportation.

DOT National Transportation Integrated Search

2014-01-01

Federal, state, and local governments spend billions on transportation infrastructure and affordable : housing subsidies, but rarely with complete coordination. States and regional entities are pivotal in : shaping transportation and housing systems....

Clinical significance of heterotopic gastric mucosal patch of the proximal esophagus

PubMed Central

Chong, Vui Heng

2013-01-01

Heterotopic gastric mucosa of the proximal esophagus (HGMPE), also referred to as “inlet patch” or “cervical inlet patch”, is a salmon colored patch that is usually located just distal to the upper esophageal sphincter. HGMPE is uncommon with endoscopic studies reporting a prevalence ranging from less than one percent to 18%. Most HGMPE are asymptomatic and are detected incidentally during endoscopy for evaluations of other gastrointestinal complaints. Most consider HGMPE as clinically irrelevant entity. The clinical significance of HGMPE is mainly acid related or neoplastic transformation. The reported prevalence of laryngopharyngeal reflux symptoms varies from less than 20% to as high as 73.1%. However, most of these symptoms are mild. Clinically significant acid related complications such as bleeding, ulcerations, structure and fistulization have been reported. Although rare, dysplastic changes and malignancies in association with HGMPE have also been reported. Associations with Barrett’s esophagus have also been reported but the findings so far have been conflicting. There are still many areas that are unknown or not well understood and these include the natural history of HGMPE, risk factors for complications, role of Helicobacter pylori infection and factors associated with malignant transformations. Follow-up may need to be considered for patients with complications of HGMPE and surveillance if biopsies show intestinal metaplasia or dysplastic changes. Despite the overall low incidence of clinically relevant manifestations reported in the literature, HGMPE is a clinically significant entity but further researches are required to better understand its clinical significance. PMID:23372354

Florid papillomatosis of the nipple: a rare presentation and review of the literature.

PubMed

Salemis, Nikolaos S

2015-01-01

Florid papillomatosis (FP) of the nipple, or nipple adenoma, is a rare benign proliferative lesion originating from the lactiferous ducts of the nipple. It most commonly affects women in their fourth and fifth decades of life. Clinically, in most cases FP presents with serous or serosanguinous nipple discharge while in many cases an erythematoid or eroded lesion, a nodule or a swelling of the nipple may coexist thus resembling Paget's disease. We describe a case of FP with a very unusual clinical presentation. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that FP should be always considered in the differential diagnosis of patients presenting with a rapidly enlarging nipple nodule even in the absence of any skin lesions or nipple discharge. Early diagnosis and prompt treatment are essential. Simple complete excision in order to eliminate the risk of recurrence is the treatment of choice for FP. Although in rare cases a coincidental ipsilateral or contralateral breast cancer has been reported, FP is considered as an entirely benign clinical entity associated with excellent prognosis.

A Rare Presentation of Cyclitis Induced Myopia.

PubMed

Ijaz, Umar; Habib, Asad; Rathore, Hassan Sajjad

2018-03-01

Unilateral cyclitis leading to myopia is a rare and clinical relevant entity. In clinical settings, pseudomyopia is generally encountered in the form of accommodative spasm, which is always bilateral. Cyclitis due to inflammation, on the other hand, can cause pseudomyopia unilaterally and it is a very rare presentation. A young male with acute anterior uveitis, presented with acute episode of unilateral myopia. When patient was examined on first visit, there were no cells in anterior chamber; so he was started on cycloplegic eye drops, but his condition didn't improve. Examination on subsequent visit revealed cellular reaction in anterior chamber and narrowing of anterior chamber angles on anterior segment optical coherence tomography (OCT). Treatment for uveitis was started and patient's visual acuity and refractive error improved. Pseudomyopia is a known complication of several drugs and certain medical conditions. The possible mechanism is supraciliary exudation causing relaxation of zonular fibers and increased convexity of the crystalline lens. Myopia in the setting of a mild cellular reaction can easily be missed and has not been reported yet to the best of authors' literature search.

Rheumatic disorders in Sub-saharan Africa.

PubMed

McGill, P E; Oyoo, G O

2002-04-01

To review prevalence of rheumatic disorders in Sub-saharan Africa and in the context of current medical practice in the region assess the need for service and educational provision. Medline, (English, French). Pre-Medline literature review from the 1950's (Current contents). Various conference reports including attendance at all three AFLAR (African League Against Rheumatism) congresses in the 1990's. Author's personal database. All cited references read in full. The evidence shows rheumatoid arthritis and systemic lupus erythematosus to be increasing in frequency in the indigenous populations of East, Central and South Africa but remaining rare in West Africans. Gout is now more prevalent than ever throughout the subcontinent. HIV has spawned a variety of previously rare spondyloarthropathies (reactive arthritis, psoriatic arthritis, enthesopathy) and changed the epidemiology of pyomyositis and osteomyelitis. Osteoarthritis is a universal problem. Juvenile chronic arthritis is not rare and rheumatic fever is common. Acute and chronic locomotor problems associated with diverse entities such as leprosy, brucellosis, meningococcus, alpha viruses, parasites, fluorosis, rickets and haemoglobinopathies enhance diagnostic diversity and therapeutic and educational requirements. Suggestions made to address the challenge posed by the burden of rheumatic disorders.

Endovascular Treatment for Fusiform Dilation of Internal Carotid Artery Following Craniopharyngioma Resection: A Case Illustration.

PubMed

Li, Qiang; Wang, Chaohua; Xu, Jianguo; You, Chao

2015-09-01

Fusiform dilation of the internal carotid artery complicates aggressive craniopharyngioma resection and occurs mainly in children. We report a case to describe the availability of endovascular treatment for this rare entity. A 13-year-old boy presented with headache for 2 years after resection of craniopharyngioma. A fusiform dilation of the right carotid artery was found and was coiled using stent-assisted technique. Follow-up showed satisfactory outcome and disappearance of headache. To our knowledge, this is the first report regarding endovascular treatment for fusiform dilation of the internal carotid artery after craniopharyngioma resection. Stent-assisted coiling is a useful approach for fusiform dilation of the internal carotid artery following craniopharyngioma surgery. © The Author(s) 2014.

Osteoinvasive subungual melanoma: a case and review.

PubMed

Kleinerman, Rebecca; Kriegel, David; Amir, Imran; Emanuel, Patrick O; Markinson, Bryan C

2010-02-01

Subungual melanoma is a relatively rare variant of melanoma, accounting for 0.7-3.5% of all melanoma cases in the Caucasian population. Curiously, it occurs in 8-33% of cases in black, Asian, Native American and Hispanic populations, which generally face a substantially lower risk of melanoma. Herein the authors report the case of a 69-year-old Hispanic female with a subungual melanoma of the acral lentiginous type that directly invaded the periosteum, cortex and medulla of the distal phalanx. In addition, we review published reports of acral lentiginous melanoma with osseous invasion and discuss the evidence, on a molecular level, for this entity's aggressive pattern of invasion. The review of cases is limited to those found through the PubMed search engine.

[Epidermoid cancer of the thoracic esophagus following mediastinal irradiation].

PubMed

Fékété, F; Mosnier, H; Sogni, P; Belghiti, J; Molas, G

1986-03-01

Squamous cell carcinoma of the esophagus induced by radiation therapy is a rare entity. We report 4 cases observed during the past 4 years. Three women and one man aged from 47 to 78 years developed squamous cell carcinoma of the esophagus 8 to 11 years after radiation therapy. The 3 women had been irradiated for breast cancer and the man for Hodgkin's disease with 40 to 57.5 Gy. Three patients were operated on and the immediate postoperative course was uneventful. Culling data from this report and from the literature we reviewed the different steps concerning the diagnosis and the treatment of this complication of radiation therapy. We suggest that diagnostic and therapeutic modalities should follow the same guidelines as in other esophageal cancers.

Ichthyosis associated with widespread tinea corporis: report of three cases.

PubMed

Freitas, Camila Fernanda Novak Pinheiro de; Mulinari-Brenner, Fabiane; Fontana, Hanae Rafaela; Gentili, Arthur Conelian; Hammerschmidt, Mariana

2013-01-01

Ichthyoses are a common group of keratinization disorders. A non-inflammatory generalized persistent skin desquamation is observed. It is characterized by increased cell turnover, thickening of the stratum corneum and functional changes of sebaceous and sweat glands. All of these favor fungal proliferation. Dermatophytes may infect skin, hair and nails causing ringworm or tinea. They have the ability to obtain nutrients from keratinized material. One of its most prevalent genera is Trichophyton rubrum. Although tineas and ichthyoses are quite common, the association of the two entities is rarely reported in the literature. Three cases of ichthyosis associated with widespread infection by T. rubrum are presented. Resistance to several antifungal treatments was responsible for worsening of ichthyosis signs and symptoms.

Ichthyosis associated with widespread tinea corporis: report of three cases*

PubMed Central

de Freitas, Camila Fernanda Novak Pinheiro; Mulinari-Brenner, Fabiane; Fontana, Hanae Rafaela; Gentili, Arthur Conelian; Hammerschmidt, Mariana

2013-01-01

Ichthyoses are a common group of keratinization disorders. A non-inflammatory generalized persistent skin desquamation is observed. It is characterized by increased cell turnover, thickening of the stratum corneum and functional changes of sebaceous and sweat glands. All of these favor fungal proliferation. Dermatophytes may infect skin, hair and nails causing ringworm or tinea. They have the ability to obtain nutrients from keratinized material. One of its most prevalent genera is Trichophyton rubrum. Although tineas and ichthyoses are quite common, the association of the two entities is rarely reported in the literature. Three cases of ichthyosis associated with widespread infection by T. rubrum are presented. Resistance to several antifungal treatments was responsible for worsening of ichthyosis signs and symptoms. PMID:24068140

Hair follicle nevus - A dermoscopic approach.

PubMed

Okada, Junna; Moroi, Yoichi; Tsujita, Jun; Takahara, Masakazu; Urabe, Kazunori; Kiryu, Hiromaro; Furue, Masutaka

2008-01-01

We report the case of a 26-year-old man who presented with small soft nodules with tiny hairs that had been present on his nose since childhood. The nodules were initially diagnosed as melanocytic nevi. However, dermoscopy showed many uniform hair follicles and an interfollicular 'pseudo-pigment network' in the nodules. Histologically, many well-differentiated hair follicles and sebaceous glands were seen in the dermis. Serial sectioning revealed neither central cysts nor a central canal. We therefore diagnosed this case as hair follicle nevus. Dermoscopy is now widely used as a non-invasive, in vivo technique for the diagnosis of pigmented skin lesions. Hair follicle nevus is a very rare disease and this is the first report to demonstrate the manifestation of this clinical entity by dermoscopy.