Birt–Hogg–Dubé Syndrome

Birt–Hogg–Dubé syndrome (BHD, OMIM#135150) is an autosomal dominantly inherited cancer predisposition syndrome caused by germline pathogenic variants in the folliculin gene, FLCN [1]. The first report of BHD is generally attributed to Canadian physicians Birt, Hogg, and Dubé, who in 1977 described a familial genodermatosis characterized by fibrofolliculomas, trichodiscomas, and acrochordons [2]. Named in honor of Birt, Hogg, and Dubé, this condition was later linked to an increased risk of developing benign and malignant renal neoplasms, cystic lung disease, and recurrent spontaneous pneumothoraces, besides specific cutaneous findings [3–5].