Lung cysts in Birt-Hogg-Dubé syndrome: Histopathological characteristics and aberrant sequence repeats
نویسندگان
چکیده
منابع مشابه
Birt-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 کاملRenal tumor associated with pulmonary cysts: Birt-Hogg-Dubé syndrome.
A previously healthy 66-year-old man presented with a 3-month history of prostatism symptoms. He had a familial history (in his daughter and sister) of renal neoplasia. Physical examination findings were normal, except for the presence of multiple white and skin-colored papules distributed over the face and neck, consistent with fibrofolliculomas. Laboratory test results were unremarkable. Ultr...
متن کاملBirt-Hogg-Dubé syndrome: a rare cause of pulmonary cysts.
2Department of Surgery, Vancouver General Hospital and University of British Columbia, Vancouver, BC, V5Z 1M9 Canada. irt-Hogg-Dubé syndrome is a rare autosomal-dominant inherited disorder characterized by the presence of firm facial papules that on biopsy are shown to represent fibrofolliculomas [1–3]. Patients with Birt-HoggDubé syndrome have a high predisposition to malignant renal tumors, w...
متن کاملLung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
RATIONALE Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax. OBJECTIVES We evaluated 198 patients from 89 families with BHDS to characterize the risk factors for pneumothorax and genotype-pulmonary associations. METHODS Helical computed tomography scans of the ...
متن کاملBirt-Hogg-Dubé syndrome: diagnosis and management.
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based...
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ژورنال
عنوان ژورنال: Pathology International
سال: 2009
ISSN: 1320-5463,1440-1827
DOI: 10.1111/j.1440-1827.2009.02434.x