CTICasesBirt-Hogg-Dube Syndrome
Imaging findings
CT chest in a non-smoking patient shows bilateral, thin-walled, oblong, and floppy cystic spaces with a basilar and subpleural predominance. The patient also has a history of testicular seminoma.
Key takeaways
Birt-Hogg-Dubé syndrome is an autosomal dominant disorder caused by mutations in the folliculin (FLCN) gene. It is characterized by benign skin tumors (fibrofolliculomas), renal cell carcinomas, and basilar-predominant lung cysts that predispose to spontaneous pneumothorax. While renal tumors are classic, other neoplasms such as seminoma have been rarely reported in association with the syndrome.
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