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Birt-Hogg-Dubé syndrome

Disease definition

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

ORPHA:122

  • Synonym(s):
    • Fibrofolliculomas with trichodiscomas and acrochordons
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: 135150
  • UMLS: C0346010
  • MeSH: D058249
  • GARD: 2322
  • MedDRA: 10067736

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