Folliculin gene-associated syndrome

Dr Craig Hacking and Dr Maxime St-Amant et al.

Folliculin gene-associated syndrome (FLCN-S) or 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.)

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

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 published their findings in 1978 7.

Consider other cystic lung conditions such as:

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Article information

rID: 20054
System: Urogenital, Chest
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • 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

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    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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