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.)

Epidemiology

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

Pathology

Genetics

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

Radiographic features

CT

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

History and etymology

It is named after A R Birt, G R Hogg and W J Dubé who published their findings in 1978 .

Differential diagnosis

Consider other cystic lung conditions such as:

See also

Siehe auch:
und weiter: