CTICasesBirt-Hogg-Dubé Syndrome
Imaging findings
Chest CT shows multiple thin-walled, elongated, or "ellipsoid/floppy" cystic spaces. These are characteristically scattered throughout the lungs, often situated along the fissures, pleura, pulmonary veins, or interlobular septa.
Key takeaways
Diagnosis is confirmed via genetic testing for a folliculin gene mutation. Birt-Hogg-Dubé is an autosomal dominant disorder associated with renal tumors (e.g., renal cell carcinoma, oncocytoma) and benign skin lesions (fibrofolliculomas). Management includes monitoring for recurrent pneumothorax and annual ultrasound screening for renal tumors.
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