Bannayan–Riley–Ruvalcaba syndrome
Updates to Article Attributes
Body
was changed:
Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.
There are no formal diagnostic criteria for this disease, but characteristic features include:
- macrocephaly
- lipomatosis
hemangiomashaemangiomata- pigmented macules on 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 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>- +<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 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/hemangiomas">hemangiomas</a></li>- +<li><a href="/articles/hemangiomas">haemangiomata</a></li>