title: Birt-Hogg-Dubé syndrome: diagnosis and management.
abstract: 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 diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD.
authors: Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands. fh.menko@vumc.nl
authors: Fred H
authors: FH
authors: Menko
authors: Maurice A M
authors: MA
authors: van Steensel
authors: Sophie
authors: S
authors: Giraud
authors: Lennart
authors: L
authors: Friis-Hansen
authors: Stéphane
authors: S
authors: Richard
authors: Silvana
authors: S
authors: Ungari
authors: Magnus
authors: M
authors: Nordenskjöld
authors: Thomas Vo
authors: TV
authors: Hansen
authors: John
authors: J
authors: Solly
authors: Eamonn R
authors: ER
authors: Maher
mesh_terms: D003560:Cysts / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011030:Pneumothorax / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins