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Klin Onkol. 2012;25 Suppl:S18-20.

[Birt-Hogg-Dubé syndrome].

[Article in Czech]

Author information

  • 1Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha. anna.krepelova@fnmotol.cz

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.

PMID:
22920201
[PubMed - indexed for MEDLINE]
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