Birt-Hogg-Dubé Syndrome

Abstract

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest.

Keywords: Birt-Hogg-Dubé syndrome; Diffuse cystic lung disease; Fibrofolliculomas; Folliculin; Pleurodesis; Pneumothorax; Renal cancer.