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). It is mainly characterised by:</p><ul>
-<li>multiple bilateral renal tumors (particularly <a href="/articles/chromophobe-renal-cell-cancer">chromophobe renal cell cancer</a> and <a href="/articles/renal-oncocytoma">oncocytoma</a>)</li>-<li>cutaneous manifestations (angiofibromas, perifollicular fibromas, acrochordons, fibrofolliculomas, etc.)</li>- +<li>multiple bilateral renal tumors (particularly chromophobe <a title="Renal cell cancer" 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>