Bilateral familial Hirayama disease in a father and daughter
نویسندگان
چکیده
منابع مشابه
Fox-Fordyce disease in daughter and father.
On examination, discrete 2to 3-mm perifollicular papules localized to the bilateral axillae ( fig. 1 ) and the pubic area were noted. The color of the papules ranged from flesh-colored to slightly hypopigmented. Additionally, her left axilla showed areas of superficial erosion, erythema and overlying honey-colored crust ( fig. 2 ). Of particular interest, the patient’s father was also examined ...
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Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients-father and daughter-with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case repo...
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The syndrome of bilateral aplasia of the tibia, polydactyly with or without syndactyly, and absence of the thumbs, was first reported in 1915 by Werner in a twenty-year-old woman in her sixth month of pregnancy who requested an abortion because the pregnancy was causing her difficulties. The patient had no thumbs and six fingers, each with a metacarpal bone. There were eight toes on the left fo...
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Burch (1936), in a comprehensive review, was largely responsible for furthering recognition of the condition in America, and the number of cases that have been reported, mostly in the ophthalmological literature, during the past ten years is an indication that arachnodactyly is not of extreme rarity, and that many milder cases and 'formes frustes ' have previously passed unrecognized. Stewart (...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2016
ISSN: 0972-2327
DOI: 10.4103/0972-2327.173410