Birt-Hogg-Dube Syndrome (BHD): Types 1 and 2

Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant predisposition to the development of cutaneous hamartomas (Toro et al. 2008) that was first reported by two distinct groups. In 1975, in Germany, Otto P. Hornstein and Monika Knickenberg observed a family suffering from several colonic polyps and perifollicular fibromas. Later, in 1977, Canadian researchers, including Arthur R. Birt, identified a related genetic condition and named it fibrofolliculoma (Happle 2020).