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Encyclopedia of Cancer pp 1–5Cite as

Birt-Hogg-Dubé Syndrome

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Synonyms

BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; Hornstein-Knickenberg syndrome

Definition

Birt-Hogg-Dubé syndrome is a rare, autosomal dominantly inherited genodermatosis characterized by multiple, benign cutaneous hair follicle tumors (fibrofolliculomas, characterized by multiple noncancerous tumors of the hair follicles particularly on the face, neck, and upper chest), trichodiscomas, acrochordons (skin tags), lung cysts, spontaneous pneumothorax (lung wall collapse), colon polyps and colon carcinoma, lipomas, angiolipomas, parathyroid adenomas, parotid oncocytomas, and an increased risk for developing kidney tumors such as oncocytomas, chromophobe, papillary carcinoma, and clear renal cell carcinoma (RCC).

Characteristics

BHD syndrome was originally described in 1977 by Birt, Hogg, and Dubé as a rare form of inherited autosomal dominant syndrome in large kindred, wherein 15 of 37 members were older than 25 years of age. Originally, it was characterized...

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References

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See Also

  • (2012) Autosomal dominant. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 323. doi:10.1007/978-3-642-16483-5_489

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  • (2012) Germline mutation. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1544. doi:10.1007/978-3-642-16483-5_2404

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  • (2012) Heterozygosity. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1689. doi:10.1007/978-3-642-16483-5_2704

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  • (2012) Neoplasia. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2474. doi:10.1007/978-3-642-16483-5_4011

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  • (2012) Renal cancer. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, pp 3225–3226. doi:10.1007/978-3-642-16483-5_6575

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Authors and Affiliations

  1. Basic Research Laboratory, National Cancer Institute at Frederick, 1050 Boyles St, Frederick, MD, 21702, USA

    Shree Ram Singh

Authors
  1. Shree Ram Singh
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Corresponding author

Correspondence to Shree Ram Singh .

Editor information

Editors and Affiliations

  1. Abt. Tumorgenetik, Deutsches Krebsforschungszentrum, Heidelberg, Germany

    Manfred Schwab

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Singh, S.R. (2014). Birt-Hogg-Dubé Syndrome. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27841-9_657-3

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  • DOI: https://doi.org/10.1007/978-3-642-27841-9_657-3

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-27841-9

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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