대한대장항문학회

Gardner's syndrome is a rare familial disease consisting of multiple colonic polyps,<br>osteomas of the mandible, skull and long bone, and a number of soft tissue tumors<br>including epidermoid cysts, sebaceous cysts, pilar cysts, and desmoid tumors. The colon<br>is the most common site for polyposis, but the stomach, duodenum, small bowel and<br>periampullary areas also may be involved. In addition to these three classic lesions,<br>other extracolonic manifestations are frequent and varied.<br>Gardner's syndrome is inherited as an autosomal dominant trait. Various evidences<br>suggest that the majority of these polyps and the extracolonic manifestations are due to<br>a single gene defect. It is postulated that the familial adenomatous polyposis gene locus<br>is in the long arm of chromosome 5, and the gene defect is the constitutional deletion of<br>5q21-22.<br>Our case is a 34 year-old-female patient who received total Proctocolectomy with<br>Kock continent ileostomy due to a concomitant rectal cancer. She had total<br>thyroidectomy done due to papillary thyroid carcinoma three years before. A significant<br>number of her family members also had colonic Polyposis.<br>