“…The syndrome is also characterized by extra-colorectal features including upper gastrointestinal tract polyps, especially of the duodenum, desmoid tumors (fibromatosis), osteomas, epidermoid cysts, congenital hypertrophy of the retinal pigment epithelium, dental anomalies and increased risk for peri-ampullary carcinoma, meduloblastoma, papillary carcinoma of the thyroid and hepatoblastoma (1,2,5). The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene, although new mutations account for 15-30% of cases and results from a germline mutation (1,2,6,7). We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.…”