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Review

Birt-Hogg-Dubé Syndrome

Erin Reese  1 , Jason Sluzevich  1 , Irma Kluijt  2 , H. Jelle Teertstra  3 , Daphne De Jong  4 , Simon Horenblas  5 , Jay Ryu  6
Douglas L Riegert-Johnson  1 , Lisa A Boardman  2 , Timothy Hefferon  3 , Maegan Roberts  4
, editors.
In: Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009.
[updated ].
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Review

Birt-Hogg-Dubé Syndrome

Erin Reese et al.
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Excerpt

Birt-Hogg-Dubé (BHD) syndrome is a rare, autosomal dominantly inherited genodermatosis characterized by multiple cutaneous hamartomas (namely fibrofolliculomas and trichodiscomas) and increased susceptibility to renal neoplasms, pulmonary cysts, and spontaneous pneumothoraces. It is caused by mutations in the FLCN gene, which encodes a tumor-suppressor protein, folliculin.

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References

    1. Lindor N.M. et al. Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. . Int J Dermatol. 2001;40(10):653–6. - PubMed
    1. Rejsek and Burnier, Fibromes sous-cutanes peripilares multiples du cou. Bull Soc francq dermat et syph, 192532: p. 242-243.
    1. Zackheim H.S., Pinkus H. Perifollicular Fibromas. . Arch Dermatol. 1960;82:913–919. - PubMed
    1. Pinkus H., Coskey R., Burgess G.H. Trichodiscoma. A benign tumor related to haarscheibe (hair disk). . J Invest Dermatol. 1974;63(2):212–8. - PubMed
    1. Hornstein O., Knickenberg M. Perifollicular Fibromatosis Cutis with Polyps of the Colon - a Cutaneo-Intestinal Syndrome sui generis. . Arch Derm Res. 1975;253:161–175. - PubMed

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