BANNAYAN-RILEY-RUVALCABA SYNDROME

By Gary M. White, MD

Bannayan-Riley-Ruvalcaba syndrome


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized most notably by developmental delay and macrocephaly. It typically presents in childhood. Cutaneous features include pigmented macules on the penis, cafe-au-lait spots, vascular malformations, lipomas, hamartomatous polyps of the distal ileum and colon, and Hashimoto thyroiditis.

Bannayan-Riley-Ruvalcaba syndrome vs Cowden Syndrome

Because of the many similarities between Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome (e.g., PTEN mutation, harmatomatous polyps, macrocephaly) and that some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome [J Cutan Med Surg. 2001 May-Jun;5(3):228-30], and other individuals have had the characteristic features of both conditions, many have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions see also overgrowth syndromes.

Clinical

Non-Skin

NIH link

Additional Pictures

Bannayan-Riley-Ruvalcaba syndrome

References

A 12-year-old boy with intermittent rectal bleeding and penile lentigines. Journal of Digestive Endoscopy Vol 4; October-December 2013

JAAD February 2000 Volume 42, Issue 2, Part 2, Pages 348–350

11 year old boy. JAAD 2005;53:639


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