[Birt-Hogg-Dubé syndrome]

Ugeskr Laeger. 2010 Jul 19;172(29):2085-90.
[Article in Danish]

Abstract

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cysts* / diagnosis
  • Cysts* / genetics
  • Genetic Testing
  • Hamartoma* / diagnosis
  • Hamartoma* / genetics
  • Humans
  • Kidney Neoplasms* / diagnosis
  • Kidney Neoplasms* / genetics
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Mutation
  • Pneumothorax* / diagnosis
  • Pneumothorax* / genetics
  • Proto-Oncogene Proteins / genetics*
  • Skin Neoplasms* / diagnosis
  • Skin Neoplasms* / genetics
  • Syndrome
  • Tumor Suppressor Proteins / genetics*

Substances

  • FLCN protein, human
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins