Bannayan-Riley-Ruvalcaba syndrome: Spectrum of intestinal pathology including juvenile polyps

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a disorder that includes juveni le polyposis as part of its pathologic spectrum, and it recently has been s hown to share phenotypic and genotypic features with Cowden's disease. In e xisting literature, descriptions of intestinal pathology in patients with E RRS are relatively sparse and occasionally erroneous. We describe the intes tinal pathology in multiple specimens from three children with ERRS. Examin ation of gastrointestinal biopsies from these children revealed predominant ly colonic and rectal polyps with the histology of juvenile polyps. Additio nally, two cases with clusters of ectopic ganglion cells within the lamina propria, one in a colonic polyp and one in a duodenal biopsy, and an atypic al polyp were observed. Bannayan-Riley-Ruvalcaba syndrome should be include d in the list of differential diagnostic considerations when a child or you ng adult presents with a juvenile polyp, particularly if unusual histologic features such as atypical polyps or ectopic ganglion cells are encountered .