title: [Birt-Hogg-Dubé syndrome].
abstract: Birt-Hogg-Dubé syndrome (BHDS, MIM 135150) is an autosomal dominant condition characterized by presence of skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cancer. The disease is caused by germ-line mutations of the FLCN gene, which encodes protein folliculin. BHDS is a rare condition with high penetrance and variable expression. Clinical recommendations include increased care during general anesthesia due to a higher risk of pneumothorax, and long-term follow-up due to an elevated risk of renal cancer. Diagnostic and predictive DNA tests are available; prenatal and preimplantation diagnosis is possible.
authors.affiliation: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. anna.krepelova@fnmotol.cz
authors.forename: A
authors.initials: A
authors.lastname: Křepelová
authors.forename: A
authors.initials: A
authors.lastname: Puchmajerová
authors.forename: P
authors.initials: P
authors.lastname: Vasovčák
authors.forename: M
authors.initials: M
authors.lastname: Chocholatý
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D011518:Proto-Oncogene Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins