As one of the major criteria of diagnosis for BHD by the European BHD consortium, typical skin lesion (at least 5 fibrofolliculomas or trichodiscomas with onset in adult life and with at least 1 confirmed histopathologically) is a characteristic clinical manifestation that can be diagnosed for BHD without FLCN mutation [8,26]. This evidence concerns the gene FLCN and Birt-Hogg-Dube syndrome.