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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bannayan-Riley-Ruvalcaba syndrome


Other Names for this Disease
  • Bannayan-Zonana syndrome
  • BRRS
  • BZS
  • Macrocephaly multiple lipomas and hemangiomata
  • Macrocephaly pseudopapilledema and multiple hemangiomas
More Names
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Your Question

How rare is Bannayan-Riley-Ruvalcaba syndrome?  Can affected individuals die from this condition? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How common is Bannayan-Riley-Ruvalcaba syndrome?

Although Bannayan-Riley-Ruvalcaba syndrome is rare, the true prevalence of is unknown. Because of the variable and often subtle external characteristics of this condition, many individuals remain undiagnosed.[1]
Last updated: 11/7/2011

Can individuals with Bannayan-Riley-Ruvalcaba syndrome die from the condition?

The most serious consequences of Bannayan-Riley-Ruvalcaba syndrome (BRRS) relate to the increased risk of cancers. Individuals with BRRS and PTEN mutations are currently thought to have the same cancer risks as individuals with Cowden syndrome. The cancer risks for individuals with Cowden syndrome are as high as 10% for thyroid cancer, 5-10% for cancer of the lining of the uterus (endometrium) and up to 50%  for breast cancer.[1]   Other cancers, such as those of the skin, kidneys and brain, may also be associated with Cowden syndrome. It is not clear whether these risks apply to individuals with BRRS who do not have PTEN mutations.[1]

Because of this increased risk of developing these cancers, an important aspect of management is cancer surveillance.  Screening recommendations have not been established for BRRS. However, it has been suggested that individuals with BRRS and a PTEN mutation should follow the same surveillance as individuals with Cowden Syndrome.[1]
Last updated: 11/7/2011

References