대한대장항문학회

Familial adenomatous polyposis is a disease associated with the highest risk for the<br>development of colorectal carcinoma, with virtually all the affected individuals developing<br>colorectal carcinoma if colectomy is not performed. The disease is characterized by its<br>association with a large spectrum of diseases and conditions outside the colon. Gardner's<br>syndrome is characterized by presence of multiple osteomata (usually skull<br>and<br>mandible), multiple epidermoid cysts, desmoid tumor. and is regarded as a complete<br>expression of a number of extracolonic manifestations that may be present in any<br>patient with polyposis colon.<br>We have recently experienced a 34-year old male Patient with multiple adenomatous<br>Polyps of the entire colon who manifested osteoma of the mandible, osteochondroma of<br>humerus, benign skin tumor(pilomatrixoma), dental anomalies, adenoma of duodenum,<br>congenital hypertrophy of the retinal pigment epithelium, spina bifida of first sacral<br>vertebra, thus showing all the manifestations of Gardner's syndrome. Extracolonic<br>manifestations of the familial adenomatous polyposis and basic concept regarding the<br>Gardner's syndrome is reviewed in this article.<br>