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Book

Birt-Hogg-Dube Syndrome

Jonathan S. Crane  1 , Veronica Rutt  2 , Amanda M. Oakley  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Birt-Hogg-Dube Syndrome

Jonathan S. Crane et al.
Free Books & Documents

Excerpt

Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis usually manifesting in the third decade of life with multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, and spontaneous pneumothorax.

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Conflict of interest statement

Disclosure: Jonathan Crane declares no relevant financial relationships with ineligible companies.

Disclosure: Veronica Rutt declares no relevant financial relationships with ineligible companies.

Disclosure: Amanda Oakley declares no relevant financial relationships with ineligible companies.

References

    1. Xu WS, Tian XL, Yang YL, Xu KF. [Birt-Hogg-Dubé syndrome: a hereditary pulmonary cystic disease]. Zhonghua Jie He He Hu Xi Za Zhi. 2019 Apr 12;42(4):284-286. - PubMed
    1. Sakuraba M, Yamasaki H, Kusudo S, Tanaka A. [Birt-Hogg-Dubé Syndrome Incidentally Found at Surgery for Idiopathic Hemopneumothorax;Report of a Case]. Kyobu Geka. 2019 Mar;72(3):240-243. - PubMed
    1. Escalon JG, Richards JC, Koelsch T, Downey GP, Lynch DA. Isolated Cystic Lung Disease: An Algorithmic Approach to Distinguishing Birt-Hogg-Dubé Syndrome, Lymphangioleiomyomatosis, and Lymphocytic Interstitial Pneumonia. AJR Am J Roentgenol. 2019 Jun;212(6):1260-1264. - PubMed
    1. Inoue M, Miyazaki S, Kuno Y, Ishida J, Ikeda T. Birt-Hogg-Dubé syndrome in the elderly. J Gen Fam Med. 2019 Mar;20(2):72-73. - PMC - PubMed
    1. Kobayashi K. Incidental detection of asymptomatic pneumothorax resulting in a diagnosis of Birt-Hogg-Dubé syndrome. BMJ Case Rep. 2019 Jan 28;12(1) - PMC - PubMed

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