Birt-Hogg-Dubé syndrome (BHD, OMIM #315150) is an autosomal dominant condition caused by germline mutations in the FLCN gene encoding folliculin and is characterized by fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell carcinoma (RCC) [1]. The gene discussed is FLCN; the disease is renal cell carcinoma.