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Birt-Hogg-Dubé Syndrome

  • Kristina Goldenberg
  • Gary Goldenberg
Chapter

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].

Keywords

Renal Tumor Spontaneous Pneumothorax Spontaneous Primary Pneumothorax Pulmonary Manifestation Fibroepithelial Polyp 
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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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Kristina Goldenberg
    • 1
  • Gary Goldenberg
    • 2
  1. 1.Department of DermatologyMt. Sinai School of MedicineNew YorkUSA
  2. 2.Department of DermatologyThe Mount Sinai HospitalNew YorkUSA

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