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:
- dermal and deep visceral lipomas
- hamartomatous intestinal polyps most commonly in terminal ileum and in large bowel loops 4
- pigmented macules on the glans of the penis (speckled penis)
Another syndrome that can be caused by mutations in the PTEN gene is Cowden syndrome. The two syndromes probably represent a spectrum of features with considerable overlap (e.g. hamartomatous polypopsis, higher risk of certain cancers), termed PTEN hamartoma tumor syndrome 3.
- 1. Bhargava R, Au yong KJ, Leonard N. Bannayan-riley-ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients. AJNR Am J Neuroradiol. 2014;35 (2): 402-6. doi:10.3174/ajnr.A3680 - Pubmed citation
- 2. Gontijo GM, Pinto CA, Rogatto SR et-al. Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report. An Bras Dermatol. 88 (6): 982-985. doi:10.1590/abd1806-4841.20132730 - Free text at pubmed - Pubmed citation
- 3. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. European journal of human genetics : EJHG. 16 (11): 1289-300. doi:10.1038/ejhg.2008.162 - Pubmed
- 4. Wolfgang F. Dahnert. Radiology Review Manual. (2020) ISBN: 9781496360694