Endocrine Abstracts

Introduction: The Birt–Hogg–Dube syndrome (BHDS) is a rare autosomal dominant genodermatosis characterised by presence of at least one of the following: benign skin fibrofolliculomas, lung cysts with recurrent pneumothoraces or renal tumours. The phenotypic constellation is due to heterozygous germline mutations of the tumour suppressor gene – FLCN, located on 17p11.2, encoding a 579 aminoacid protein termed folliculin. Case reports have described endocrine tumo...