The Korean Journal of Medicine

The Korean Association of Internal Medicine (대한내과학회)
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Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts

낭종성 폐병변으로 내원하여 진단된 Birt-Hogg-Dube 증후군 2예

  • Seo, Myeongsook (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lim, Doo-Ho (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Song, Joon Seon (Department ofPathology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Park, Chan-Sik (Department ofPathology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Chae, Eun Jin (Department ofRadiology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Song, Jin Woo (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine)
  • 서명숙 (울산대학교 의과대학 서울아산병원 내과) ;
  • 임두호 (울산대학교 의과대학 서울아산병원 내과) ;
  • 송준선 (울산대학교 의과대학 서울아산병원 병리과) ;
  • 박찬식 (울산대학교 의과대학 서울아산병원 병리과) ;
  • 채은진 (울산대학교 의과대학 서울아산병원 영상의학과) ;
  • 송진우 (울산대학교 의과대학 서울아산병원 내과)
  • Received : 2014.01.31
  • Accepted : 2014.06.27
  • Published : 2014.10.01
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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.

Birt-Hogg-Dube (BHD) 증후군은 상염색체 우성으로 유전되는 모낭 종양, 신장 종양, 다발성 폐낭종을 특징으로 하는 드문 유전 질환이다. 저자들은 가족력과 함께 기흉의 과거력과 얼굴의 다발성 구진 및 다발성 폐낭종이 확인되어 FLCN 유전자 검사를 통해 BHD 증후군으로 진단한 1예와 피부 병변 없이 다발성 폐낭종으로 내원하여 영상 및 조직 검사 시행 결과 BHD 증후군에 합당한 소견을 보인 BHD 증후군 환자 1예를 보고하였다. 폐의 낭종성 변화가 있을 때 BHD 증후군을 감별해야 하며, 동반될 수 있는 신장종양, 대장암 등 악성 질환의 위험도가 높아 정기적인 추적관찰이 필요하다.

Keywords

References

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