Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Birt-Hogg-Dubé Syndrome

  • Shree Ram Singh
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_657-3

Synonyms

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...

Keywords

Renal Cell Carcinoma Renal Tumor Parathyroid Adenoma Clear Cell Renal Cell Carcinoma Spontaneous Pneumothorax 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Hasumi H, Baba M, Hasumi Y et al (2015) Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. Proc Natl Acad Sci USA 112:E1624-E1631Google Scholar
  2. Nickerson ML, Warren MB, Toro JR et al (2002) 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 2:157–164PubMedCrossRefGoogle Scholar
  3. Schmidt LS (2004) Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med 4:877–885PubMedCrossRefGoogle Scholar
  4. Schmidt LS, Warren MB, Nickerson ML et al (2001) Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 69:876–882PubMedCentralPubMedCrossRefGoogle Scholar
  5. Singh SR, Zhen W, Zheng Z et al (2006) The drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance. Oncogene 25:5933–5941PubMedCrossRefGoogle Scholar
  6. Vincent A, Farley M, Chan E et al (2003) Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Soc Dermatol 49:698–705CrossRefGoogle Scholar

See Also

  1. (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_489Google Scholar
  2. (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_2404Google Scholar
  3. (2012) Heterozygosity. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1689. doi:10.1007/978-3-642-16483-5_2704Google Scholar
  4. (2012) Neoplasia. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2474. doi:10.1007/978-3-642-16483-5_4011Google Scholar
  5. (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_6575Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg (outside the USA) 2014

Authors and Affiliations

  1. 1.Basic Research LaboratoryNational Cancer Institute at FrederickFrederickUSA