Cases reported "Rare Diseases"

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1/11. The abdominal cocoon: a case report.

    The abdominal cocoon is a rare disease that is characterized by a total or partial encasement of the small bowel by a thick and fibrotic membrane. Thirty-five cases were reported since it was first described. It occurs primarily in females. Preoperative diagnosis is a matter of challenge and usually made at laparotomy. We report a patient with partial intestinal obstruction and abdominal cocoon which was diagnosed peri-operatively. We review the literature and discuss the etiology of this disease.
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keywords = membrane
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2/11. Double omental hernia--case report on a very rare cause of intestinal obstruction.

    INTRODUCTION: We report a case of transomental herniation of the ileum through a defect in the gastrocolic ligament with re-emergence through a defect in the gastrohepatic ligament. This type of herniation is extremely rare and a review of the literature is presented. CLINICAL PRESENTATION: A 41-year-old Chinese male presented with signs and symptoms of intestinal obstruction. TREATMENT: An urgent laparotomy was undertaken and he was found to have a rare form of intra-abdominal hernia. The hernia was reduced and the defects were closed. OUTCOME: Postoperative recovery was unremarkable. CONCLUSION: Urgent operation should not be delayed because of the high mortality associated with strangulation.
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ranking = 48.334419250488
keywords = ligament
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3/11. Bilateral naevus of Ota: a rare manifestation in a Caucasian.

    The naevus of Ota (naevus fusculocoeruleus ophthalmomaxillaris) was first described by the Japanese dermatologist M. T. Ota in 1939. It has a reported incidence of 0.2% to 1% in the Japanese population. It usually occurs in the skin innervated by the first or second branch of the trigeminal nerve. The naevus comprises dermal melanocytes and is congenital or acquired during adolescence. Commonly associated lesions include scleral melanocytosis and other ocular manifestations as well as lesions of the tympanic membrane, oral and intranasal mucosa and leptomeninges. Diseases associated with Ota's naevus in rare cases are open-angle glaucomas and melanoma. The naevus of Ota in Europeans is a rare manifestation. We report the very rare case of a bilateral naevus of Ota associated with enoral melanocytosis in a white European person.
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keywords = membrane
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4/11. Laparoscopic management of teratoma of the round ligament.

    This paper describes the case of an asymptomatic woman who underwent laparoscopy as part of a work-up for infertility. A previous transvaginal ultrasound had shown an echogenic adnexal mass, independent of the ovary. The intraoperative finding was a tumor of the round ligament that was resected and determined to be a mature teratoma. The case is reported due to the unusual location for that type of tumor; and in addition, it is the first description of a teratoma in the round ligament managed by laparoscopy.
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ranking = 145.00325775146
keywords = ligament
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5/11. Abdominal cocoon. An unusual cause of intestinal obstruction.

    We report a case of abdominal cocoon in a young male patient, presenting with acute intestinal obstruction and abdominal mass. This is a rare acquired condition of the peritoneum in which the small bowel is encased either partially or totally by a dense fibrous membrane. Operative findings, perioperative imaging and treatment guidelines are discussed. A better awareness of this condition may facilitate preoperative diagnosis; prevent inadvertent bowel damage at laparoscopy and unnecessary bowel resection at laparotomy.
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keywords = membrane
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6/11. A rare presentation of cardiac hydatid cyst: stroke and acute aortic occlusion.

    Cardiac involvement in hydatid disease is uncommon. We report a case of a surgically treated ruptured left ventricular hydatid cyst, which presented with acute stroke and was later complicated by distal aortic embolism due to perioperative dislodgement of the germinative membrane.
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7/11. "Free-floating" desmosomes in lipoid proteinosis: an inherent defect in keratinocyte adhesion?

    The classic features of lipoid proteinosis - beadlike papules and hoarseness - result from the accumulation of hyaline material in the mucocutaneous dermis. However, the characteristic manifestation in children - erosive, crusted lesions that lead to scarring - is rarely discussed and poorly understood. Lipoid proteinosis results from mutations in extracellular matrix protein 1, but the function of this protein is largely unknown. We performed ultrastructural studies on lesional epidermis, cultured monolayer keratinocytes, and raft keratinocyte cultures from blistering lesions of a child with lipoid proteinosis. All sections showed the dissociation of relatively intact desmosomes from keratinocytes, with desmosomes that were "free-floating" in the intercellular spaces or attached by thin strands to the cell membrane. These changes were present in serial sections of both tissue and cultured keratinocytes, suggesting this observation to be an inherent feature of keratinocytes devoid of extracellular matrix protein 1, rather than an artifact. Although additional patients should be studied, the diminished appearance of the inner dense plaque - the region of attachment of keratin intermediate filaments to desmosomal proteins - provides preliminary evidence that extracellular matrix protein 1 may participate in attaching keratin intermediate filaments to desmosomal region protein(s).
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8/11. Juvenile xanthogranuloma of the finger.

    We present an unusual instance of juvenile xanthogranuloma occurring in the hand. A 23-month-old girl had a mass on the radial aspect of the right third finger at the distal interphalangeal joint that extended to the collateral ligament. The lesion was histologically diagnosed as a juvenile xanthogranuloma after resection of the mass. Juvenile xanthogranuloma is uncommon in the hand, and only three patients with this condition occurring in the digits have been reported in the English language literature. The clinical presentation, diagnosis, and treatment are discussed.
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ranking = 24.167209625244
keywords = ligament
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9/11. Isolated malleus neck fracture.

    Isolated fracture of the malleus seems to be an extremely rare ossicular injury. All previously reported cases involved the handle of the malleus. This is the first reported case of fracture of the neck of the malleus. The diagnosis can easily be missed because the tympanic membrane remains intact. Furthermore, the history may not be suggestive. Surgical repair is particularly difficult.
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ranking = 1
keywords = membrane
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10/11. Anterior sacral meningocele simulating ovarian cyst.

    Anterior sacral meningocele is a rare condition characterized by the herniation of meningeal membranes and cerebrospinal fluid through a defect in the anterior aspect of the sacrum. We report a case of an anterior sacral meningocele that was mimicking an ovarian cyst.
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keywords = membrane
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