Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2
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چکیده
منابع مشابه
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.
Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. To identify the BHD locus, we recruited families with cutaneous lesions and associated phenotypic features of the BHD syndrome. We performed a genomewide scan in one large kindred with BHD an...
متن کاملBirt-Hogg-Dubé syndrome: an inherited cause of spontaneous pneumothorax.
(height 1.6 m, body mass index 26.4) was referred to the respirology clinic for assessment of recurrent, bilateral, spontaneous pneumothoraces of unknown cause. She had her first spontaneous pneumothorax at the age of 28 years and had a total of six spontaneous pneumothoraces, distributed bilaterally, over the next 28 years. Repeated surgical interventions were done, including bullectomies and ...
متن کاملBirt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.
BACKGROUND Birt-Hogg-Dubé syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons. Concurrent internal tumors, such as colonic polyps and renal carcinoma, have been described in patients with BHD. OBJECTIVE To evaluate kindreds with familial renal tumors for cutaneous manifestations of BHD. DESIGN One hundred fifty-two p...
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 کاملBirt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.
Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this synd...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2001
ISSN: 0002-9297
DOI: 10.1086/323744