Journal article

Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt-Hogg-Dube syndrome

DS Bajwa, S Cook, R Winn, IM Winship, A McQueen, A Husain, N Rajan

BRITISH JOURNAL OF DERMATOLOGY | WILEY | Published : 2021

Abstract

Birt-Hogg-Dubé (BHD) syndrome is characterised by a triad of benign skin tumours, pulmonary cysts with an attendant risk of pneumothorax, and renal cancer. BHD is caused by heterozygous pathogenic variants in folliculin (FLCN), a tumour suppressor gene.

Grants

Funding Acknowledgements

The research conducted by N.R. is supported by the Newcastle National Institute for Health Research Biomedical Research Centre.