CTICasesBirt-Hogg-Dube Syndrome
Imaging findings
Chest CT in an obese male with a BMI of 35 and a history of bilateral pneumothoraces shows multiple thin-walled, elliptical or lenticular lung cysts. The cysts are predominantly located in the lower lung zones and distributed along the pleural surfaces, fissures, and adjacent to pulmonary vessels. Multiple bilateral renal cysts are present, and face/neck biopsy confirms benign fibrofolliculomas.
Key takeaways
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genetic disorder caused by mutations in the FLCN gene, which encodes folliculin. It is characterized by a triad of skin lesions (fibrofolliculomas), multiple lung cysts predisposing to spontaneous pneumothorax, and renal tumors (most commonly chromophobe renal cell carcinoma or hybrid oncocytoma). The lung cysts are classically basal, subpleural, lenticular, and often abut pulmonary veins.
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