CTICasesBirt-Hogg-Dube Syndrome
Imaging findings
Chest CT in a 30-something male with a history of recurrent pneumothorax shows multiple bilateral, thin-walled pulmonary cysts. The cysts are predominantly located in the lower lung zones and display an elongated, subpleural, or venous-adjacent distribution, often oriented perpendicular to the pleura or along the fissures.
Key takeaways
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant congenital disorder caused by mutations in the FLCN gene. The classic pulmonary manifestation is multiple thin-walled, lower-lobe-predominant lung cysts that are characteristically subpleural or located along the pulmonary veins and fissures. These patients have a high rate of spontaneous pneumothorax and are at risk for renal cell carcinoma.
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