Clinical Updates on Birt-Hogg-Dubé Syndrome and Atypical Presentations: Diagnosis and Management

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary genodermatosis associated with a mutation in the folliculin (FLCN) gene. Diagnostic criteria for this disease were first established in 2009; however, researchers have recently come across new germline mutations and resulting phenotypes. This review reassessed current guidelines by taking into consideration the incomplete forms of the syndrome as patients may have clinical features of BHD without a FLCN gene mutation. Individuals who share any characteristics of the syndrome should be screened for BHD since patient outcomes depend heavily on early detection.