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Korean J Med > Volume 87(4); 2014 > Article
The Korean Journal of Medicine 2014;87(4): 477-483.
낭종성 폐병변으로 내원하여 진단된 Birt-Hogg-Dubé 증후군 2예
서명숙1, 임두호1, 송준선2, 박찬식2, 채은진3, 송진우1
1울산대학교 의과대학 서울아산병원 내과
2울산대학교 의과대학 서울아산병원 병리과
3울산대학교 의과대학 서울아산병원 영상의학과
Two Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts
Myeongsook Seo1, Doo-Ho Lim1, Joon Seon Song2, Chan-Sik Park2, Eun Jin Chae3, Jin Woo Song1
1Departments of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
2Departments of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
3Departments of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Corresponding Author: Jin Woo Song ,Tel: +82-2-3010-3993, Fax: +82-2-3010-6968, Email: jwsong@amc.seoul.kr
Received: 2014. 1. 31;  Accepted: 2014. 6. 27.
This is an Open Access article distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/bync/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
ABSTRACT
Birt-Hogg-Dubé (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.
Keywords: Birt-Hogg-Dubé syndrome; Pulmonary cyst; Folliculin gene
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