Familial Multiple Exostoses: Father and Daughter Affected
نویسندگان
چکیده
منابع مشابه
Daughter and mother diagnosed with hereditary multiple exostoses
INTRODUCTION Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. PATIENT CONCERNS & DIAGNOSES We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. ...
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The occurrence of myositis in a father and his daughter is reported. The daughter's illness resembled childhood dermatomyositis and progressed to systemic involvement and death less than four years from the onset of symptoms. In the case of the father the illness followed the course of adult polymyositis and there was little evidence of systemic involvement. The immunological and genetic signif...
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Familial cardiac conduction disorder of a progressive nature has been reported in adult and paediatric patients. An underlying cardiomyopathy was found in most of these patients, either of hypertrophic, restrictive or dilated variety. Systemic diseases like juvenile rheumatoid arthritis and other collagen disorders and familial dysautonomia infrequently have associated conduction abnormalities....
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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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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1930
ISSN: 0035-9157
DOI: 10.1177/003591573002300605