Familial multiple discoid fibroma:A lookalike of Birt-Hogg-Dube syndrome not linked to the FLCN locus

Previously, we proposed that familial multiple trichodiscomas is distinct from Birt-Hogg-Dubé syndrome (BHD). We now studied the cutaneous findings in eight additional families and renamed the condition familial multiple discoid fibroma (FMDF) to emphasize the distinction from BHD. FMDF is characterized by early age of onset, prominent involvement of the pinnae and typical discoid fibromas without the follicular epithelial component seen in the fibrofolliculoma/trichodiscoma spectrum of BHD. Associated internal abnormalities and FLCN germline mutations are absent and using segregation analysis we could exclude involvement of the FLCN locus.