Birt-Hogg-Dube Syndrome

Abstract

Birt-Hogg-Dube syndrome (BHD), also known as fibrofolliculomas with trichodiscomas and acrochordons syndrome, is an autosomal dominant genodermatosis [1]. Internal tumors, such colonic polyps and renal carcinomas, have also been described in these patients. This condition was originally described in 1977, when Birt, Hogg, and Dube described a family in which 15 of 70 members over three generations exhibited multiple, skin-colored, dome-shaped papules distributed over the face, neck, and upper trunk [2, 3]. It has been shown that BHD is caused by a germline mutation in the FLCN (folliculin) gene (Online Mendelian Inheritance in Man #135150) [4].