The Korean Journal of Medicine

  • 제87권4호
  • /
  • Pages.477-483
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  • 2014
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  • 1738-9364(pISSN)
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  • 2289-0769(eISSN)
대한내과학회 (The Korean Association of Internal Medicine)
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낭종성 폐병변으로 내원하여 진단된 Birt-Hogg-Dube 증후군 2예

Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts

  • 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)
  • 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)
  • 투고 : 2014.01.31
  • 심사 : 2014.06.27
  • 발행 : 2014.10.01
⟨ 이전 논문 다음 논문 ⟩

초록

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.

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.

키워드

참고문헌

  1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977;113:1674-1677. https://doi.org/10.1001/archderm.1977.01640120042005
  2. Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001;69:876-882. https://doi.org/10.1086/323744
  3. Kluger N, Giraud S, Coupier I, et al. Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families. Br J Dermatol 2010;162:527-537. https://doi.org/10.1111/j.1365-2133.2009.09517.x
  4. Kim EH, Jeong SY, Kim HJ, Kim YC. A case of Birt-Hogg-Dube syndrome. J Korean Med Sci 2008;23:332-335. https://doi.org/10.3346/jkms.2008.23.2.332
  5. Kim J, Yoo JH, Kang DY, Cho NJ, Lee KA. Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax. Gene 2012;499:339-342. https://doi.org/10.1016/j.gene.2012.03.037
  6. Schaffer JV, Gohara MA, McNiff JM, Aasi SZ, Dvoretzky I. Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome. J Am Acad Dermatol 2005;53(2 Suppl 1):S108-111. https://doi.org/10.1016/j.jaad.2004.11.021
  7. Gupta N, Seyama K, McCormack FX. Pulmonary manifestations of Birt-Hogg-Dube syndrome. Fam Cancer 2013;12:387-396. https://doi.org/10.1007/s10689-013-9660-9
  8. Lopez V, Jorda E, Monteagudo C. Birt-Hogg-Dube syndrome: an update. Actas Dermosifiliogr 2012;103:198-206. https://doi.org/10.1016/j.ad.2011.07.009
  9. Tobino K, Hirai T, Johkoh T, et al. Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. Eur J Radiol 2012;81:1340-1346. https://doi.org/10.1016/j.ejrad.2011.03.039
  10. Furuya M, Nakatani Y. Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol 2013;66:178-186. https://doi.org/10.1136/jclinpath-2012-201200

피인용 문헌

  1. Birt-Hogg-Dubé syndrome incidentally diagnosed during asthma management vol.3, pp.3, 2015, https://doi.org/10.4168/aard.2015.3.3.232
  2. Diagnosis and treatment of cystic lung disease vol.32, pp.2, 2017, https://doi.org/10.3904/kjim.2016.242
  3. Birt-Hogg-Dubé Syndrome Associated with a Renal Tumor vol.94, pp.4, 2014, https://doi.org/10.3904/kjm.2019.94.4.379