What is Bannayan-Riley-Ruvalcaba syndrome?
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition in which the affected person could have a large head and many benign tumors. BRRS is part of the broad spectrum of diseases caused by mutations in the PTEN gene. This spectrum includes diseases such as Cowden syndrome and PTEN-related Proteus syndrome.
Infants born with BRRS tend to have a large head and body size, but their excessive growth slows down as the child gets older. By the time they reach adulthood, they will have a normal height and weight. A male with BRRS can also get dark freckles on his penis. People with BRRS can develop lipomas (benign fatty tumors) and hemangiomas- a mesh of abnormal blood vessels that make the skin red or purple. Benign hamartomatous polyps are common colon findings, with numbers ranging from a couple polyps to hundreds. Adenomatous polyps are also common and these can become cancerous.
Other symptoms include muscle abnormalities such as hypotonia (weak muscle tone), possible intellectual and developmental delays, thyroid problems, hyper-extensibility, and scoliosis.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/bannayan-riley-ruvalcaba-syndrome/overview/36593 • DATE UPDATED: 2017-11-13
Bannayan-Riley-Ruvalcaba syndrome. (2017, Setpember 1). Genetic and Rare Diseases Information Center. Retrieved September 8, 2017 from https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome
Bannayan-Riley-Ruvalcaba syndrome (BRRS). (2010). University of Iowa, Hospitals & Clinics. Retrieved September 8, 2017 from https://uihc.org/health-library/bannayan-ruvalcaba-riley-syndrome-brrs
Eng C. (2016, June 2). PTEN Hamartoma Syndrome. GeneReviews. Retrieved September 8, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1488/
Henderson, C. J., Ngeow, J., Collins, M. H., Martin, L. J., Putnam, P. E., Abonia, J. P.,... Rothenberg, M. E. (2014). Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes. Journal of Pediatric Gastrotenterology and Nutrition, 58, 553-560
PTEN Hamartoma Tumor Syndrome. (2015). National Organization for Rare Disorders. Retrieved September 8, 2017 from https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/
Stanich, P. P., Lindor, N. M. (2016, August 23). PTEN hamartoma tumor syndrome, including Cowden syndrome. UpToDate, Inc. Retrieved September 7, 2017 from https://www.uptodate.com/contents/pten-hamartoma-tumor-syndrome-including-cowden-syndrome