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- A Křepelová, A Puchmajerová, P Vasovčák, and M Chocholatý.
- Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. anna.krepelova@fnmotol.cz
- Klin Onkol. 2012 Jan 1; 25 Suppl: S18-20.
AbstractBirt-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.
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