Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report

Abstract Background Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20–40 years, but decrease...

Full description

Bibliographic Details
Main Authors: E. C. Sattler, O. K. Steinlein
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Medical Genetics
Subjects:
Birt-Hogg-Dubé syndrom
FLCN
Pneumothorax
Lung bullae
Kidney cancer
Online Access:http://link.springer.com/article/10.1186/s12881-018-0558-0

Internet

http://link.springer.com/article/10.1186/s12881-018-0558-0

Similar Items