NIH

Zebra of the Week: Birt-Hogg-Dubé syndrome

December 10, 2024

Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous skin tumors; lung cysts and/or history of pneumothorax; and various types of renal tumors. Fibrofolliculomas are specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually don't cause any symptoms, they put individuals at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.

Source:

NIH GARD (Genetic and Rare Diseases Information Center). Birt-Hogg-Dubé syndrome. Accessed 2024, December 9. https://rarediseases.info.nih.gov/diseases/2322/birt-hogg-dub-syndrome