Birt-Hogg-Dubé syndrome

Changed by Yuranga Weerakkody, 5 Apr 2016

Updates to Article Attributes

Body was changed:

Birt-Hogg-Dubé (BHD) syndrome is a multisystemic disease caused by a deletion mutation on the FLCN gene (chromosome 17). It is mainly characterised 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)

Pathology

Genetics

It carries an autosomal dominant inheritance.

Radiographic features

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

History and etymology

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

Differential diagnosis

See also

  • -<a title="lymphangioleiomyomatosis" href="/articles/lymphangioleiomyomatosis">lymphangioleiomyomatosis</a><ul><li>cysts typically round, with diffuse (rather than zonal) distribution</li></ul>
  • +<a href="/articles/lymphangioleiomyomatosis">lymphangioleiomyomatosis</a><ul><li>cysts typically round, with diffuse (rather than zonal) distribution</li></ul>
  • -<a title="Pulmonary Langerhans cell histiocytosis" href="/articles/pulmonary-langerhans-cell-histiocytosis">Langerhans cell histiocytosis</a><ul><li>cysts variable in shape but classically co-existing with cavitating nodules</li></ul>
  • +<a href="/articles/pulmonary-langerhans-cell-histiocytosis">Langerhans cell histiocytosis</a><ul><li>cysts variable in shape but classically co-existing with cavitating nodules</li></ul>
  • -<a title="Lymphocytic interstitial pneumonitis" href="/articles/lymphocytic-interstitial-pneumonitis-1">lymphocytic interstitial pneumonitis</a><ul><li>co-existing ground-glass opacity and other parenchymal change</li></ul>
  • +<a href="/articles/lymphocytic-interstitial-pneumonitis-1">lymphocytic interstitial pneumonitis</a><ul><li>co-existing ground-glass opacity and other parenchymal change</li></ul>
  • -<a title="Desquamative interstitial pneumonia (DIP)" href="/articles/desquamative-interstitial-pneumonia">desquamative interstitial pneumonia</a><ul><li>co-existing ground-glass opacity and other parenchymal change</li></ul>
  • +<a href="/articles/desquamative-interstitial-pneumonia">desquamative interstitial pneumonia</a><ul><li>co-existing ground-glass opacity and other parenchymal change</li></ul>
Images Changes:

Image 4 CT (lung window) ( create )

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