ea0026p58 | Endocrine tumours and neoplasia | ECE2011
Juszczak A
, Halliday D
, Mihai R
, Ali A
Introduction: The BirtHoggDube 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...