Birt-Hogg-Dubé syndrome and multinodular goitre.

A 50-year-old woman presented with multiple skin-coloured facial papules. There was a family history of similar lesions. Histology of one of these papules was consistent with fibrofolliculoma. Multiple fibrofolliculomas together with flexural acrochordons suggested the diagnosis of Birt-Hogg-Dubé syndrome. Investigations to exclude associated disease revealed changes consistent with multinodular goitre on thyroid ultrasound. The literature regarding the association of Birt-Hogg-Dubé syndrome with internal disease is reviewed.