대한대장항문학회

Familial adenomatous polyposis(FAP) is a hereditary disorder characterized by the<br>development in adolescence or early adult life of multiple adenomatous polyps throughout<br>the colon and rectum. The risk of malignant transformation is so high as to virtually<br>100 per cent if the patient lives long enough. Gardner's syndrome, a variant of familial<br>adenomatous polyposis, is characterized by colorectal adenomas, multiple osteomas and<br>variety of soft tissue lesions, including sebaceous cysts, fibromas, lipomas, and desmoid<br>tumors. The recent study show that this group of diseases are caused by different<br>mutations of the same gene located on the long arm of chromosome 5.<br>All family members at risk of inheriting this gene need frequent surveillance of the<br>colon. This should start between the ages of 8 and 12 years and should be continued<br>at regular intervals. Prompt colectomy is indicated at the time the diagnosis is made.<br>We experienced a case of Gardner's syndrome, which had typical extracolonic<br>manifestations. Herein, we report this case with a review of the literature.<br>