Extracolonic manifestations of the familial adenomatous polyposis syndromes.

Abstract

The classic prototypes of the gastrointestinal polyposis syndromes are familial polyposis coli and Gardner syndrome. Extracolonic manifestations have been described in both diseases, and the distinction between them has become less clear. In fact, some authorities have suggested that familial polyposis coli and Gardner syndrome may represent a spectrum of the same disease. In both conditions, extracolonic expressions are the rule rather than the exception, and familiarity with them is essential for accurate diagnosis and correct patient management. In this pictorial essay, we discuss familial polyposis coli and Gardner syndrome together under the heading familial adenomatous polyposis syndromes. The colonic characteristics of these syndromes will be reviewed briefly, followed by examples of the most common extracolonic manifestations.