Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterized by:

  • multiple lung cysts and secondary spontaneous pneumothoraces
  • multiple bilateral renal tumors (particularly chromophobe renal cell cancer and oncocytoma)
  • cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc.)

Birt-Hogg-Dubé syndrome carries an estimated 25% risk of renal cell carcinoma 12

Deletion mutation in the folliculin (FLCN) gene (short arm of chromosome 17), with autosomal dominant inheritance.

Lung cysts in Birt-Hogg-Dubé syndrome are usually multiple and have a lower zone predominance 11. Cyst morphology tends to be variable within each patient, with cysts commonly oval or lentiform and septated when large 4. The presence of paramediastinal cysts when disproportionate in number or oval (floppy) in shape is another distinguishing characteristic 11.

It is named after Canadian physicians Arthur R Birt (dermatologist), Georgina R Hogg (pathologist) and W James Dubé (internist) who published their findings in 1978 7.

Consider other cystic lung conditions such as:

Article information

rID: 20054
System: Urogenital, Chest
Section: Syndromes
Synonyms or Alternate Spellings:
  • Fibrofolliculomas with trichodiscomas and acrochordons
  • Hornstein-Knickenberg syndrome
  • Birt-Hogg-Dube syndrome
  • Hornstein-Birt-Hogg-Dubé syndrome
  • Birt Hogg Dubé syndrome
  • Birt-Hogg-Dubé (BHD) syndrome
  • Birt-Hogg-Dubé syndrome
  • Folliculin gene-associated syndrome (FLCN-S)

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Cases and figures

  • Case 1: lung cysts
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  • Left chromophobe ...
    Case 2: with left chromophobe rcc
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  • Multiple, thin-wa...
    Case 2: lung cysts
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  • Case 3
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  • Case 4
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  • Case 5
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  • Case 6
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  • Case 7
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