1/19. adenoma of the nipple in an adolescent.We recently treated a 14-year-old girl with a clinically and histologically diagnosed with adenoma of the nipple. Enucleation of a mass preserving the nipple was successfully performed. adenoma of the nipple is a rare disease which is often mistaken clinically for Paget's disease. About 200 cases of the tumors have been reported worldwide so far. The most common symptom is erosion of the nipple and nipple discharge. Our case had erosion of the nipple but no discharge. adenoma of the nipple is a benign lesion which can be successfully treated by a simple surgery.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/19. Constrictive pericarditis caused by candida glabrata in an immunocompetent patient: case report and review of literature.Candida pericarditis is a rare disease described mostly in patients with recent cardiothoracic surgery or debilitating chronic diseases and is generally considered to be associated with high mortality. To our knowledge, we report the first case of Candida pericarditis in a healthy host who had not undergone thoracic surgery and the first documented case and cure of pericarditis caused by C. glabrata. The most probable underlying factor in the development of this pericarditis was the abdominal surgery the patient underwent to correct a gastrogastric fistula, without an intraabdominal leak, which developed 10 y after surgical gastric stapling for weight reduction. The literature on Candida pericarditis is reviewed. If Candida pericarditis is diagnosed early and treated with a combined medical and surgical approach, the prognosis today is much more favorable than that previously reported.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/19. 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.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/19. Lipoid proteinosis of the larynx.Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. It may involve the central nervous system and cause intracerebral calcifications. Laryngeal lesions may resemble singer's nodule or chronic laryngitis. The pathogenesis of the disease is not clear although several studies suggest a defective collagen production and/or lysosomal storage disease. In this article two cases with skin and larynx involvement are reported.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/19. calciphylaxis: case report and literature review.Tissue calcification is a well-recognized common metabolic disease, but calciphylaxis still remains an enigmatic rarity. The latter may be induced experimentally and acquired naturally in human diseases. Although many chronic azotemic or end stage renal disease patients (ESRD) with hyperparathyroidism (HPT) are at risk of calciphylaxis not all of them do develop the disease, even non-renal, patients may also develop this disease. Out of a total of about 2000 hemodialysis, 15,000 dermatology and 26,000 medical patients seen over a three year period in a busy Saudi Arabian tertiary medical centre, we report a sentinel nephrology patient with sudden excruciatingly painful cutaneous calciphylaxis that necessitated acute dermatology emergency consultation, and present a review of the medical literature. In order to institute appropriate total quality management of this life-threatening, rare disease, it is advisable that a high index of suspicion should be entertained by dermatologists, general physicians, nephrologists, and pulmonologists in an appropriate clinical scenario.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/19. Tuberculous otitis media with mastoiditis and central nervous system involvement.tuberculosis of the middle ear and mastoid is currently a rare disease in developed countries, but this disease still occurs and may cause serious consequences. We report a case of disseminated tuberculosis involving the middle ear, mastoid, lung and central nervous system. tuberculosis should be considered in the differential diagnosis of chronic ear drainage, especially in young children.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/19. Pulmonary epithelioid hemangioendothelioma: an unusual case and a review of the literature.We describe a case of pulmonary epithelioid hemangioendothelioma, previously known as intravascular bronchoalveolar tumor, in a 35-year-old woman with an initial diagnosis made by transbronchial biopsy. This is a rare disease, with approximately 50 cases described in the literature. All previous cases have been diagnosed by surgical lung biopsy. Although our patient underwent thoracoscopic lung biopsy, the diagnosis was initially made on transbronchial biopsy; to our knowledge, this has not been previously described in the English-language literature. We also described findings on high-resolution CT, both typical and atypical relative to previously published reports. This tumor can affect multiple organs. The prognosis is very unpredictable, with life expectancy ranging from 1 to 15 years. There is no single effective treatment, though spontaneous regression and response to chemotherapy and interferon are reported.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/19. Primary idiopathic chylopericardium: report of two cases.Primary chylopericardium is an extremely rare disease. This report presents two cases of this disease, in a 47-year-old man and 21 -year-old woman. Both cases were given diagnosis of primary chylopericardium by chylous pericardial fluid examination and lymphangio-scintigraphy which demonstrated abnormal communication between the left thoracic duct and the pericardial cavity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/19. osteomyelitis of the rib due to streptococcus pneumoniae: a very rare condition in children.Rib osteomyelitis is a rare disease. We present a previously unreported case of streptococcus pneumoniae osteomyelitis of the rib. A 4-month-old-infant presented with fever, irritability and abdominal tenderness. Pericostal collection was discovered incidentally on ultrasound; it was first drained by needle aspiration and appropriate antibiotic therapy was given, with resolution of fever in 24 h, but recurrence of symptoms 4 days later, with swelling over the affected rib. Surgical drainage with resection of the infected portion of the rib were done followed by a prolonged course of intravenous and then oral antibiotics, without any recurrence at 6 months follow-up. A review of the pertinent literature was made. This case demonstrates that the spectrum of pathogens potentially responsible for rib osteomyelitis may be broader than previously reported. The management and outcome are similar to rib osteomyelitis due to any other bacteria.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/19. Coinheritance of two rare genodermatoses (Papillon-Lefevre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.The co-occurrence of two rare recessive genetic conditions in apparently unrelated individuals or families is extremely rare. Two geographically distant and apparently unrelated families were identified in which individuals were simultaneously affected by two rare recessive mendelian syndromes, Papillon-Lefevre syndrome and type 1 oculocutaneous albinism. The families were tested for mutations in the causative genes, cathepsin c (CTSC) and tyrosinase (TYR), respectively, by direct sequencing. To assess the relationship of the two families, both families were tested for polymorphisms at eight microsatellite markers spanning both CTSC and TYR loci. Independent mutations (c.318-1G-->A and c.817G-->C/p.W272C) were identified in CTSC and TYR, respectively, that were shared by the affected individuals in both families. The two affected genes lie close together on chromosome bands 11q14.2-14.3, and studies with linked genetic markers suggested that the families shared a small chromosomal segment carrying both mutations that had been transmitted intact from a remote common ancestor. The co-occurrence of the two rare diseases in multiple families depends on their shared chromosomal location, but not on any shared pathogenic mechanism.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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