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Birt-Hogg-Dubé Syndrome

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Acneiform Eruptions in Dermatology

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Abstract

Birt-Hogg-Dubé syndrome (BHD), also known as fibrofolliculomas with trichodiscomas and acrochordons syndrome, is an autosomal dominant genodermatosis [1]. Internal tumors, such colonic polyps and renal carcinomas, have also been described in these patients. This condition was originally described in 1977, when Birt, Hogg, and Dubé described a family in which 15 of 70 members over three generations exhibited multiple, skin-colored, dome-shaped papules distributed over the face, neck, and upper trunk [2, 3]. It has been shown that BHD is caused by a germline mutation in the FLCN (folliculin) gene (Online Mendelian Inheritance in Man #135150) [4].

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Author information

Authors and Affiliations

  1. Department of Dermatology, Mt. Sinai School of Medicine, New York, NY, USA

    Kristina Goldenberg M.D.

  2. Department of Dermatology, The Mount Sinai Hospital, New York, NY, USA

    Gary Goldenberg M.D.

Authors
  1. Kristina Goldenberg M.D.
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  2. Gary Goldenberg M.D.
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Editor information

Editors and Affiliations

  1. Mount Sinai Medical Center, New York, USA

    Joshua Zeichner

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Goldenberg, K., Goldenberg, G. (2014). Birt-Hogg-Dubé Syndrome. In: Zeichner, J. (eds) Acneiform Eruptions in Dermatology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8344-1_26

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  • DOI: https://doi.org/10.1007/978-1-4614-8344-1_26

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-8343-4

  • Online ISBN: 978-1-4614-8344-1

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