Bannayan–Riley–Ruvalcaba syndrome
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Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder characterizedcaused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome, hence, patients may be have an increased risk of cancer.
There are no formal diagnostic criteria for this disease, but characteristic features include:
- macrocephaly
- lipomatosis
- hemangiomas
- pigmented macules
ofon the glans of the penis (speckled penis)
Women with this syndrome have a higher risk of breast cancer. Breast MRI screening is indicated in this population.
-<p><strong>Bannayan–Riley–Ruvalcaba syndrome</strong> (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder characterized by a mutation in the PTEN gene. It is considered in the family of <a title="Polyposis syndromes" href="/articles/polyposis_syndromes">hamartomatous polyposis</a> syndrome, hence, patients may be have an increased risk of cancer.</p><p>There are no formal diagnostic criteria for this disease, but characteristic features include:</p><ul>-<li><a title="macrocephaly" href="/articles/macrocephaly">macrocephaly</a></li>-<li><a title="lipomatosis" href="/articles/lipomatosis">lipomatosis</a></li>-<li><a title="hemangiomas" href="/articles/hemangiomas">hemangiomas</a></li>-<li>pigmented macules of the glans penis (speckled penis)</li>-</ul><p> </p><p> </p>- +<p><strong>Bannayan–Riley–Ruvalcaba syndrome</strong> (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the <a title="PTEN-related disease" href="/articles/pten-related-disease">PTEN</a> gene. It is considered in the family of <a href="/articles/polyposis-syndromes">hamartomatous polyposis</a> syndrome.</p><p>There are no formal diagnostic criteria for this disease, but characteristic features include:</p><ul>
- +<li><a href="/articles/macrocephaly">macrocephaly</a></li>
- +<li><a href="/articles/lipomatosis">lipomatosis</a></li>
- +<li><a href="/articles/hemangiomas">hemangiomas</a></li>
- +<li>pigmented macules on the glans of the penis (speckled penis)</li>
- +</ul><p>Women with this syndrome have a higher risk of <a href="/articles/breast-neoplasms">breast cancer</a>. <a href="/articles/breast-mri">Breast MRI</a> screening is indicated in this population.</p><p> </p>