The hamartomatous polyposis syndromes: clinical and radiologic features

Abstract

Most radiologists are familiar with the clinical and radiologic features of the familial adenomatous polyposis syndromes [1]. The hamartomatous polyposis syndromes occur less frequently, however, and their radiologic and clinical manifestations are not as well known. This group of syndromes includes Peutz-Jeghers, multiple hamartoma, juvenile polyposis, Cronkhite-Canada, and Bannayan-Riley-Ruvalcaba. The predominant gastrointestinal lesion in these diseases is some form of hamartomatous polyp. The term hamartoma implies a nonneoplastic tumor or tumorlike condition composed of tissue elements normally present in the particular area [2]. In many of these syndromes, it is now recognized that hamartomatous polyps of the gastrointestinal tract coexist with adenomas and that adenomas may develop within hamartomatous polyps. Either situation may contribute to the frequent association of alimentary tract adenocarcinoma that occurs in most of these syndromes. Various types of benign mucocutaneous lesions are common and often lead to the correct diagnosis. Of greater importance is the frequent occurrence of other extraintestinal manifestations, including several forms of malignant disease. Because of this frequent association with both gastrointestinal and nongastrointestinal malignant tumors, early and accurate diagnosis of these syndromes is essential. Meticulously performed double contrast studies are the preferred radiologic procedures for the diagnosis of gastrointestinal polyps in all of these diseases.