Birt-Hogg-Dubé Syndrome in an African Patient and a Novel Mutation in theFLCNGene
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چکیده
منابع مشابه
Birt-Hogg-Dubé syndrome in an African patient and a novel mutation in the FLCN gene.
Report of a Case | A 53-year-old man from Somalia with a history of hypertension presented with multiple asymptomatic bumps on his face that appeared progressively over time. He denied having a personal or family history of similar lesions, renalcell carcinoma,spontaneouspneumothorax,orotherpulmonarydisease. Physical examination revealeddiffuse fleshcolored, dome-shapedandpedunculatedpapules on...
متن کاملBirt-Hogg-Dubé syndrome*
A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was cor...
متن کاملA Case of Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors (fibrofolliculoma or trichodiscoma), pulmonary cysts, and increased risk of renal neoplasia. The genetic alteration for BHDS has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHDS. Mutations in the BHD gen...
متن کاملBirt–Hogg–Dubé syndrome in an Indonesian patient with folliculin gene mutation
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. A 51-year-old Indonesian female presented with recurrent spontaneo...
متن کامل[Birt-Hogg-Dubé syndrome: an update].
Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The most common histological types found in renal tumors from patients with the syndrome are oncocytoma-chromophobe carcinoma hybrids and pure forms of chromophobe carcinoma, oncocytic c...
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ژورنال
عنوان ژورنال: JAMA Dermatology
سال: 2015
ISSN: 2168-6068
DOI: 10.1001/jamadermatol.2014.3720