Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p.W260X
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 کاملBirt-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 کاملA Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation
BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. A computed tomography (...
متن کاملNovel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients ma...
متن کاملCase Report of Birt–Hogg–Dubé Syndrome
Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for w...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2012
ISSN: 0001-5555
DOI: 10.2340/00015555-1236