Birt-Hogg-Dube Syndrome

**Definition:** Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).

**Tree numbers:** - C04.700.212 - C16.320.700.212

**Synonyms:** - Fibrofolliculomas with Trichodiscomas and Acrochordons - Birt-Hogg-Dubé Syndrome - Hornstein-Birt-Hogg-Dubé Syndrome - Hornstein-Knickenberg Syndrome