Birt-Hogg-Dubé Syndrome
SOMA Skin & Laser - Premier Dermatology in New Jersey
What is Birt-Hogg-Dubé syndrome?
Birt-Hogg-Dubé syndrome is a rare autosomal dominant disorder caused by a mutation in the gene FLCN, which codes for the protein folliculin. FLCN is though to act as a tumor suppressor. Birt-Hogg-Dubé syndrome is marked by the occurrence of multiple benign tumors derived from the hair follicle.
Associated conditions include:
- Benign and malignant renal tumors
- Tumors in other organs, including medullary thyroid and colon carcinomas.
- Lung cysts that can result in pneumothorax.
