Bannayan-Ruvalcaba-Riley syndrome

A rare autosomal dominant MIM 153480 syndrome characterised by subcutaneous lipomas, haemangiomas, macrocephaly, macrosomy, hypotonia, delayed gross motor and/or speech development, mental retardation, proximal muscle myopathy, and hereditary colorectal cancer. BRR syndrome is one of the hamartomatous polyposis syndromes, including Peutz-Jeghers disease, juvenile polyposis and Cowden syndrome. BRR is caused by a mutation in Phosphatase and tensin (PTEN), a gene on chromosome 10q23.3, which encodes PTEN homolog, a protein that acts as a tumour-suppressor.

References in periodicals archive ?

Polypoid or diffuse mucosal ganglioneuromatosis is associated with these syndromes as well as the PTEN hamartomatous polyposis syndromes Cowden disease and Bannayan-Ruvalcaba-Riley syndrome. (40) Patients with Cowden disease are at an increased risk for development of follicular carcinomas of the thyroid and ductal carcinoma of the breast.

Neurogenic Polyps of the Gastrointestinal Tract: A Clinicopathologic Review With Emphasis on Differential Diagnosis and Syndromic Associations

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