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Birt-Hogg-Dube Syndrome

MESHD058249

Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).

Synonyms

  • Birt Hogg Dube Syndrome
  • Fibrofolliculomas with Trichodiscomas and Acrochordons
  • Birt-Hogg-Dubé Syndrome
  • Hornstein-Birt-Hogg-Dubé Syndrome
  • Hornstein-Knickenberg Syndrome

Source last updated 2026-05-24T15:24:32.107Z