Imaging in Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé (BHD) aka folliculin gene-associated syndrome, is a rare genetic condition caused by mutations in the FLCN gene. Unlike other cystic diseases, BHD has a strong preference for the lower lungs.

• Cyst Characteristics: Small, thin-walled, and lentiform (oval) cysts that primarily involve the lower lobes and the areas near the heart.

• The Classic Triad: Patients often present with lung cysts, skin bumps (fibrofolliculomas), and a significantly increased risk of kidney cancer.

• Clinical Warning: A spontaneous collapsed lung (pneumothorax) is often the first sign of the disease.