AN OPERATIVE CASE OF FAMILIAL ADENOMATOUS POLYPOSIS WITH INTRAABDOMINAL DESMOID

Abstract

Familial adenomatous polyposis (FAP) is thought to be caused by abnormality of APC gene on 7q chromosome and has the property of autosomal-dominant heritage. We have experienced an operated case of FAP with diverse extracolonic manifestations. A 26-year-old man was referred to the hospital because of anal bleeding. Colonfiberscopy and barium enema study demonstrated colorectal polyposis. On family history, it was outstanding that paternal brothers died at relatively younger age due to rectal cancer, and moreover his younger sister was proved to have colorectal polyposis. Consequently, his family was thought to be FAP family line. In this case, apart from colorectal polyposis, we detected many complications including abnormal dentition, congenital hypertrophy of retinal pigment epithelium, and mesenteric desmoid as extracolonic manifestations of FAP. When prophylactic total colectomy and ileo-rectostomy were performed, desmoid of mesenteric-origin involving terminal ileum, caecum and retroperitoneum was resected concurrently. It is said that the desmoid usually develops after prophylactic colectomy in most cases of FAP, and so preoperative development of desmoid as this case seems to be relatively rare.