Testicular Hamartomas in a Patient With Bannayan-Riley-Ruvalcaba Syndrome

Abstract

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal hamartomatous polyposis syndrome. Facets of this syndrome were originally described separately by Riley and Smith (1960), Bannayan and Zonana (1971), and Ruvalcaba, Myher, and Smith (1980). 1 In 1990, Cohen recommended that these be combined into a single syndrome characterized by childhood macrocephaly, penile macules, and polyposis of the colon, which he termed BRRS. 2 Bannayan-Riley-Ruvalcaba syndrome results from a germ line mutation in the phosphatase and tensin homologue (PTEN) tumor suppressor gene on chromosome 10q23; a similar mutation affects patients with Cowden syndrome and Proteus-like syndrome.3 This results in the formation of multiple hamartomas. Although neoplasms and testicular hamartomas have been reported with Cowden syndrome, 4,5 to the best of our knowledge these have not been reported with BRRS. Here we report a patient with a history of a testicular seminoma and testicular hamartomas with BRRS.