Birt-Hogg-Dubé syndrome

Changed by Patrick J Rock, 28 Sep 2020
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Birt-Hogg-Dubé syndrome or folliculin gene-associated 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.)

Epidemiology

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

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 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.

History and etymology

It is named after A R Birt, G R Hogg and W J Dubé who published their findings in 1978 7.

Differential diagnosis

Consider other cystic lung conditions such as:

See also

  • -</ul><h4>Pathology</h4><h5>Genetics</h5><p>Deletion mutation in the folliculin (<em>FLCN) </em>gene (short arm of chromosome 17), with autosomal dominant inheritance.</p><h4>Radiographic features</h4><h5>CT</h5><p>Lung cysts in Birt-Hogg-Dubé syndrome are usually multiple and have a lower zone predominance <sup>11</sup>. Cyst morphology tends to be variable within each patient, with cysts commonly oval or lentiform and septated when large <sup>4</sup>. The presence of paramediastinal cysts when disproportionate in number or oval (floppy) in shape is another distinguishing characteristic <sup>11</sup>.</p><h4>History and etymology</h4><p>It is named after <strong>A R Birt</strong>, <strong>G R Hogg</strong> and <strong>W J Dubé</strong> who published their findings in 1978 <sup>7</sup>.</p><h4>Differential diagnosis</h4><p>Consider other cystic lung conditions such as:</p><ul>
  • +</ul><h4>Epidemiology</h4><p>Birt-Hogg-Dubé syndrome carries an estimated 25% risk of renal cell carcinoma <sup>12</sup>. </p><h4>Pathology</h4><h5>Genetics</h5><p>Deletion mutation in the folliculin (<em>FLCN) </em>gene (short arm of chromosome 17), with autosomal dominant inheritance.</p><h4>Radiographic features</h4><h5>CT</h5><p>Lung cysts in Birt-Hogg-Dubé syndrome are usually multiple and have a lower zone predominance <sup>11</sup>. Cyst morphology tends to be variable within each patient, with cysts commonly oval or lentiform and septated when large <sup>4</sup>. The presence of paramediastinal cysts when disproportionate in number or oval (floppy) in shape is another distinguishing characteristic <sup>11</sup>.</p><h4>History and etymology</h4><p>It is named after <strong>A R Birt</strong>, <strong>G R Hogg</strong> and <strong>W J Dubé</strong> who published their findings in 1978 <sup>7</sup>.</p><h4>Differential diagnosis</h4><p>Consider other cystic lung conditions such as:</p><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. There is upper and mid zone predominance in size and number of cysts with sparing of costophrenic angles in contrast to lower lobe predominance in Birt Hogg Dube syndrome.</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. There is upper and mid zone predominance in size and number of cysts with sparing of costophrenic angles in contrast to lower lobe predominance in Birt Hogg Dube syndrome.</li></ul>

References changed:

  • 12. Maher E. Hereditary Renal Cell Carcinoma Syndromes: Diagnosis, Surveillance and Management. World J Urol. 2018;36(12):1891-8. <a href="https://doi.org/10.1007/s00345-018-2288-5">doi:10.1007/s00345-018-2288-5</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/29680948">Pubmed</a>

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