565 Review Article The Hamartomatous Polyposis Syndromes: Clinical and Radiologic Features Roger K. Harned1, James L. Buck2, Les H. Sobin3 Most radiologists are familiar with the clinical and radiologic features of the familial adenomatous polyposis syndromes [1]. The hamartomatous polyposis syndromes occur less fre- quently, however, and their radiologic and clinical manifesta- tions are not as well known. This group of syndromes includes Peutz-Jeghers, multiple hamartoma, juvenile polyposis, Cronk- hite-Canada, and Bannayan-Riley-Ruvalcaba. The predominant gastrointestinal lesion in these diseases is some form of hamartomatous polyp. The term hamartoma implies a nonneo- plastic tumor or tumorlike condition composed of tissue ele- ments 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 per- formed double contrast studies are the preferred radiologic procedures for the diagnosis of gastrointestinal polyps in all of these diseases. Peutz-Jeghers Syndrome Peutz-Jeghers syndrome is an inherited condition charac- terized by a unique type of gastrointestinal hamartoma, mucocutaneous pigmentation, neoplasms outside the ali- mentary tract, and an increased risk for gastrointestinal ade- nocarcinoma. Pathology The characteristic feature of the Peutz-Jeghers hamar- toma is a smooth-muscle core arising from the muscularis mucosae and extending into the polyp much like the trunk and branches of a tree. The mucosa covering the polyp is similar to the mucosa normally found in that portion of the gut [2, 3] (Fig. 1). A curious feature of some Peutz-Jeghers polyps is displacement of the epithelial elements within the submucosa, muscularis propria, and subserosa (Fig. 1). It is important that the appearance of epithelial misplacement not be mistaken for invasive, mucinous adenocarcinoma [2]. Clinical Features Peutz-Jeghers syndrome has an autosomal dominant inheritance pattern, affecting both sexes equally. The pene- trance is incomplete, however, and often the genetic defect develops as a result of spontaneous mutation [3]. Mucocutaneous pigmentation is one of the most charac- teristic features. Brown or bluish-black macules occur most commonly on the lips and buccal mucosa and less com- monly on the eyelids and dorsal surfaces of the fingers and soles of the feet (Fig. 2). The pigmentation is rarely present Received July 8, 1 994; accepted after revision September 8, 1994. The opinions on assertions contained herein are the private views of the authors and are not to be construed as official or as reflecting the views of the Depart- ments of the Army, Navy, or Defense on the Uniformed Services University of the Health Sciences. 1Department of Radiology, University of Nebraska Medical Center, 600 South 42nd St., Omaha, NE 68198-1045. Address correspondence to A. K. Harned. 2Department of Radiologic Pathology, Armed Forces Institute of Pathology, Washington, D.C., 20306-6000. 3Department of Hepatic and Gastrointestinal Pathology, Armed Forces Institute of Pathology, Washington, D.C. 20306-6000. AJR 1995;164:565-571 0361-803X/95/1643-565 © American Roentgen Ray Society Downloaded from www.ajronline.org by 171.243.67.90 on 05/30/23 from IP address 171.243.67.90. Copyright ARRS. For personal use only; all rights reserved
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