ea0062oc3 | Oral Communications | EU2019
MacFarlane James
, Plichta Piotr
, Park Soo-Mi
, Marker Alison
, Krishnan Leena
, Hand Sadiyah
, Myint Khin Swe
Case history: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by heterozygous pathogenic variants in the FLCN gene encoding folliculin on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatousÂ’ disorder usually manifesting with pulmonary cysts, benign cutaneous tumours and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discov...