Birt-Hogg-Dubé syndrome
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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.
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.
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). </p><p>It is mainly characterised by :</p><ul>- +<p><strong>Birt-Hogg-Dubé (BHD) syndrome</strong> is a multisystemic disease caused by a deletion mutation on the FLCN gene (chromosome 17). </p><p>It is mainly characterised by:</p><ul>
-</ul><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance.</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>See also</h4><ul><li><a href="/articles/hereditary-renal-cancer-syndromes">hereditary renal cancer syndromes</a></li></ul>- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>It carries an autosomal dominant inheritance.</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>See also</h4><ul><li><a href="/articles/hereditary-renal-cancer-syndromes">hereditary renal cancer syndromes</a></li></ul>