Birt-Hogg-Dubé Syndrome

  • Kristina Goldenberg
  • Gary Goldenberg


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].


Renal Tumor Spontaneous Pneumothorax Spontaneous Primary Pneumothorax Pulmonary Manifestation Fibroepithelial Polyp 
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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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