1/5. Lichen myxedematosus with systemic involvement: clinical and autopsy findings.Lichen myxedematosus is a rare disease that is characterized by the formation of lichenoid papules and plaques. Histologic examination shows deposition of mucinous material in the dermis. We report the case of a patient with cutaneous and systemic involvement and examine the clinical and postmortem data.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/5. Bilateral ovarian fibromatosis presenting with ascites and hirsutism.BACKGROUND: Ovarian fibromatosis is a very rare nonneoplastic disease. Due to the rarity and atypical clinical presentations, they may give rise to a misdiagnosis of malignancy and unnecessary extensive surgical interventions. literature lacks definitive data about this rare disease and its preoperative evaluations. MRI together with the intraoperative frozen section may help us to define the benign nature of the disease. In this report, we aimed to review the literature and give a highlight to the gynecologic oncologists about this rare disease. CASE history: A 19-year-old female patient admitted to our hospital with the complaints of menstrual irregularity, hirsutism, and increased abdominal girth. physical examination revealed bilateral ovarian mass, hirsutism, and ascites. serum CA-125 levels were slightly elevated. Preoperative MRI study showed bilateral hypointense lobulated ovarian masses. With the initial diagnosis of ovarian tumor, we performed explorative laparotomy and excised both masses. Final pathology was reported as bilateral ovarian fibromatosis. CONCLUSION: Ovarian fibromatosis commonly presents with ascites and solid pelvic mass and can be misdiagnosed as a malignant ovarian tumor. In young patients, clinicians should consider ovarian fibromatosis in differential diagnosis of pelvic mass. Preoperative MRI findings and intraoperative frozen examination may be used to avoid unnecessary aggressive surgical management.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
3/5. Brown bowel syndrome.The brown bowel syndrome (BBS) is a rare disease characterized by malabsorption and accumulation of lipofuscin in the smooth muscle cells of the muscularis externa of the small intestine. Recently, we incidentally observed a case of BBS in a colon operated on because of a neoplasm. Our ultrastructural investigation, which demonstrated changes in the mitochondria, further supports the significance of mitochondrial damage in BBS.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/5. Systemic mastocytosis associated with chronic myelomonocytic leukemia: clinical features and response to interferon alfa therapy.Systemic mastocytosis is a rare disease that shows marked heterogeneity in clinical manifestations and prognosis. It may be associated with hematologic disorders. We describe a patient with systemic mastocytosis associated with chronic myelomonocytic leukemia accompanied by ascites, pleural effusion, and development of skin lesions along a surgical scar. The disease responded well to interferon alfa therapy. This is the second report of successful treatment of mastocytosis with interferon alfa and the first associated with a hematologic malignancy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/5. Idiopathic common bile duct perforation: a case report.Spontaneous or idiopathic perforation of the bile duct (IPBD) in neonates and infants is a rare disease. An 1-year-5-month-old female child admitted with progressive abdominal distension and generalized jaundice. She had previously been treated for bacterial peritonitis at another hospital by using strong antibiotics. Abdominal tapping revealed bilious ascites suggesting a possible biliary tree perforation and was later confirmed by the scintigraphy study. She was subsequently operated and recovered uneventfully. The mode of presentation, diagnosis and treatment are described and the literature reviewed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |