Korean J Med.
2014 Oct;87(4):477-483. 10.3904/kjm.2014.87.4.477.
Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts
- Affiliations
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- 1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. jwsong@amc.seoul.kr
- 2Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 3Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- KMID: 2269225
- DOI: http://doi.org/10.3904/kjm.2014.87.4.477
Abstract
- Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax. Here, we report two cases of BHD syndrome that presented with bilateral pulmonary cysts. One patient was a 39-year-old woman who had a history of pneumothorax, multiple papules on her cheeks, and a family history of the same skin lesions and renal cell carcinoma in her father. BHD syndrome was confirmed by molecular tests that revealed a missense mutation in FLCN gene (exon 4, c.31T > C). The other patient was a 56-year-old man who showed FCLN gene polymorphism and typical radiopathological features of multiple cysts in the lung, but apparently no other manifestation.
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