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A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis

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European Journal of Dermatology

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References

  1. Palmirotta R, Donati P, Savonarola A, Cota C, Ferroni P, Guadagni F. Birt–Hogg–Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene. Eur J Dermatol 2008; 18: 382–6.

    CAS  PubMed  Google Scholar 

  2. Tanegashima T, Yamaguchi Y, Hamanoue H, Yao M, Furuya M, Aihara M. Clinical features of Birt–Hogg–Dubé syndrome: a Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma. J Dermatol 2017; 44: 1409–11.

    Article  PubMed  Google Scholar 

  3. Iwabuchi C, Ebana H, Ishiko A, et al. Skin lesions of Birt–Hogg–Dubé syndrome: clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts. J Dermatol Sci 2018; 89: 77–84.

    Article  PubMed  Google Scholar 

  4. Schmidt LS, Linehan WM. FLCN: The causative gene for Birt–Hogg–Dubé syndrome. Gene 2018; 640: 28–42.

    Article  CAS  PubMed  Google Scholar 

  5. Nickerson ML, Warren MB, Toro JR, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt–Hogg–Dubé syndrome. Cancer Cell 2002; 2: 157–64.

    Article  CAS  PubMed  Google Scholar 

  6. Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR. Birt–Hogg–Dubé syndrome: a review of dermatological manifestations and other symptoms. Am J Clin Dermatol 2018; 19: 87–101.

    Article  PubMed  Google Scholar 

  7. Furuya M, Nakatani Y. Birt–Hogg–Dubé syndrome: clinicopathological features of the lung. J Clin Pathol 2013; 66: 178–86.

    Article  CAS  PubMed  Google Scholar 

  8. Hollander MC, Blumenthal GM, Dennis PA. PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nat Rev Cancer 2011; 11: 289–301.

    Article  CAS  PubMed  Google Scholar 

  9. Nahorski MS, Lim DH, Martin L, et al. Investigation of the Birt–Hogg–Dubé tumor suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet 2010; 47: 385–90.

    Article  CAS  PubMed  Google Scholar 

  10. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHDmutation spectrum and phenotype analysis of a large cohort of families with Birt–Hogg–Dubé syndrome. Am J Hum Genet 2005; 76: 1023–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Author notes

  1. These authors contributed equally

Authors and Affiliations

  1. Department of Dermatology, Gunma University Graduate School of Medicine, 3-39-22 Showa, Maebashi, Gunma, 371-8511, Japan

    Sei-ichiro Motegi, Akiko Sekiguchi, Chisako Fujiwara, Sahori Yamazaki & Osamu Ishikawa

  2. Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, 036-8562, Japan

    Hajime Nakano & Daisuke Sawamura

Authors
  1. Sei-ichiro Motegi
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  2. Akiko Sekiguchi
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  3. Chisako Fujiwara
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  4. Sahori Yamazaki
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  5. Hajime Nakano
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  6. Daisuke Sawamura
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  7. Osamu Ishikawa
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Correspondence to Sei-ichiro Motegi.

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Motegi, Si., Sekiguchi, A., Fujiwara, C. et al. A case of Birt-Hogg-Dubé syndrome accompanied by colon polyposis and oral papillomatosis. Eur J Dermatol 28, 720–721 (2018). https://doi.org/10.1684/ejd.2018.3394

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  • DOI: https://doi.org/10.1684/ejd.2018.3394

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