A CASE OF INCOMPLETE GARDNER'S SYNDROME

Abstract

We report a case of incomplete-type Gardner's syndrome in a 31-year-old man, who had a desmoid tumor on his back in association with adenomatous polyposis coli. There was a previous history of undergoing an excision for a desmoid tumor at the age of 20. This time, he complained of epigastralgia and was diagnosed as having polyposis coli by fiber colonoscopy. Some of the polyps were more than 3cm in diameter and histologically showed severe dysplasia. Genetic analysis indicated that the polyps were a C→A point mutation in codon 935 of APC gene-exon 15. Since cancer change can occur for the disease in a high rate when the patients become over 20 years old, this patients was thought to be a candidate for operation. He underwent a total colectomy, ileoanal anastomosis with J-pouch of the terminal ileum and diverting ileostomy (two-step operation). Since ileostomy closure, he has been doing well. Though he has no residual mucosa in the middle cuff of the rectum, further careful examination of the desmoid tumor will be needed.