Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé (BHD) syndrome is a genetic multisystemic disease mainly characterised by:

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

Deletion mutation in the FLCN gene (chromosome 17)I, carrying an autosomal dominant inheritance.

CT

Lung cysts in BHD are usually multiple, may be large and often show a lower zone distribution. Cyst morphology tends to be variable within the one patient, with cysts commonly oval or lentiform and septated, particularly, when large.4

It is named after  A. R. Birt, G. R. Hogg and W. J. Dubé who initially published the findings in 1977 7.

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Article information

rID: 20054
Systems: Urogenital, Chest
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Hornstein-Birt-Hogg-Dubé syndrome
  • Birt-Hogg-Dube syndrome
  • Birt Hogg Dubé syndrome
  • Birt-Hogg-Dubé (BHD) syndrome

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Cases and figures

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    Case 1: lung cysts
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    Case 2: lung cysts
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    Case 2: with left chromophobe rcc
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    Case 3
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    Case 4
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