Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases
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چکیده
منابع مشابه
Report of two unrelated cases of Familial Thrombotic Thrombocytopeic Purpura
Thrombotic Thrombocytopenic Purpura (TTP) is a rare microangiopathic disorder characterised by the pentad of microangiopathic hemolytic anemia, thrombocytopenic purpura, neurologic abnormalities, fever, and renal disease. Decreased production and/or activity of ADAMTS13 is the cause of this disorder. ADAMTS13 is a metalloproteinase which is responsible of the cleavage of high weight multimers o...
متن کاملAnonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.
We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalange...
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Mesenchymal chondrosarcoma (MC) is an uncommon tumor with an aggressive behaviour. We present two cases of MC. The first one is a unique case of MC of the maxilla metastasized from the clavicle. The second describes MC in the mandible with extensive involvement of the condyle. A 31-year-old male and a 22-year-old male presented to Saveetha Dental College, with a 2-month history of progressiv...
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Harlequin ichthyosis is one of the most severe congenital skin cornification disorders with an incidence rate of about 1 in 300000 births and characteristic clinical features. We report two cases of harlequin ichthyosis (HI) or harlequin fetus (HF), which were products of consanguineous union. Clinical examination showed typical features of harlequin ichthyosis, with the presence of plaques wit...
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Background and Importance: Abscess of the hypophysis or pituitary adenoma is a very rare entity, and its preoperative diagnosis could be challenging. The clinical presentation is less specific, and despite the recent advancement in imaging, diagnosis before surgery is still difficult. Case Presentation: We reported two cases of pituitary abscesses in patients aged 38 and 42 years. The first ...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology, and Leprology
سال: 2016
ISSN: 0378-6323
DOI: 10.4103/0378-6323.184198