The few reports describing an association between AR and BHD, whilst insufficient evidence for a causal link between the two conditions, point towards a predisposition to hamartoma formation associated with haploinsufficiency of FLCN. Amongst patients with BHD, an adult-type rhabdomyoma might be considered in the differential diagnosis when a mass lesion arises in an unexpected site such as the upper aerodigestive tract. The gene discussed is FLCN; the disease is Birt-Hogg-Dube syndrome.