Birt-Hogg-Dubé syndrome
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Birt-Hogg-Dubé (BHD) syndrome is a genetic 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
tumorstumours (particularly chromophobe renal cell cancer and oncocytoma) - cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc.)
Pathology
Genetics
It carriesDeletion mutation in the FLCN gene (chromosome 17)I, carrying 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
-
lymphangioleiomyomatosis
- cysts typically round, with diffuse (rather than zonal) distribution
-
Langerhans cell histiocytosis
- cysts variable in shape but classically co-existing with cavitating nodules
-
lymphocytic interstitial pneumonitis
- co-existing ground-glass opacity and other parenchymal change
-
desquamative interstitial pneumonia
- co-existing ground-glass opacity and other parenchymal change
See also
-<p><strong>Birt-Hogg-Dubé (BHD) syndrome</strong> is a multisystemic disease caused by a deletion mutation on the FLCN gene (chromosome 17). It is mainly characterised by:</p><ul>- +<p><strong>Birt-Hogg-Dubé (BHD) syndrome</strong> is a genetic multisystemic disease mainly characterised by:</p><ul>
-<li>multiple bilateral renal tumors (particularly chromophobe <a href="/articles/renal-cell-carcinoma-1">renal cell cancer</a> and <a href="/articles/renal-oncocytoma">oncocytoma</a>)</li>-<li>cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc)</li>-</ul><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance.</p><h4>Radiographic features</h4><h5>CT</h5><p>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.<sup>4</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 initially published the findings in 1977 <sup>7</sup>.</p><h4>Differential diagnosis</h4><ul>- +<li>multiple bilateral renal tumours (particularly chromophobe <a href="/articles/renal-cell-carcinoma-1">renal cell cancer</a> and <a href="/articles/renal-oncocytoma">oncocytoma</a>)</li>
- +<li>cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc.)</li>
- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>Deletion mutation in the FLCN gene (chromosome 17)I, carrying an autosomal dominant inheritance.</p><h4>Radiographic features</h4><h5>CT</h5><p>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.<sup>4</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 initially published the findings in 1977 <sup>7</sup>.</p><h4>Differential diagnosis</h4><ul>