title: Birt-Hogg-Dubé Syndrome.
abstract: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest.
authors: Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, 231 Albert Sabin Way, MSB Room 6053, ML 0564, Cincinnati, OH 45267, USA. Electronic address: guptans@ucmail.uc.edu.
authors: Nishant
authors: N
authors: Gupta
authors: Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, University of California, San Francisco, 2330 Post Street, Room 420, San Francisco, CA 94115, USA.
authors: Bernie Y
authors: BY
authors: Sunwoo
authors: Department of Pulmonary Medicine, Cleveland Clinic, 9500 Euclid Avenue A90, Cleveland, OH 44195, USA.
authors: Robert M
authors: RM
authors: Kotloff
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D003560:Cysts / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000209:etiology / Q000235:genetics*; D008171:Lung Diseases / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D011030:Pneumothorax / Q000209:etiology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012871:Skin Diseases / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: Birt-Hogg-Dubé syndrome; Diffuse cystic lung disease; Fibrofolliculomas; Folliculin; Pleurodesis; Pneumothorax; Renal cancer