Birt–Hogg–Dubé (BHD) syndrome is an inherited renal cancer syndrome caused by germline mutations in theFLCNgene on chromosome 17. Manifestations include benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. In this Review, Schmidt and Linehan provide an overview of BHD syndrome, discussing the molecular genetics, diagnosis, and management of this rare disorder.
- Laura S. Schmidt
- W. Marston Linehan