IMAGE | COLON A Patient With Gardner’s Syndrome and Familial Adenomatous Polyposis Presenting With Extra-abdominal Desmoid Tumors and Diffuse Intestinal Polyposis

A 26-year-old Haitian-American man, diagnosed with a desmoid tumor of the right foot 2 years earlier, presented with pain and purulent bloody discharge from an ulcerated right foot mass (Figure 1). His physical exam revealed dental abnormalities includ-ing the loss of teeth. Radiographic imaging studies revealed a multi-lobulated right foot mass that measured over 9 x 8 cm and multiple subcutaneous cystic masses on his back, right upper leg, and head, measuring up to 2.4 cm. Colonoscopy and upper endoscopy performed due to suspicion for Gardner’s syndrome demonstrated more than 50 polyps throughout the colon (Figure 2), more than 25 polyps in the duodenum (Figure 3), and innumerable polyps in the fundus and body of the stomach. Biopsies of the colonic and duodenal polyps were consistent with tubular adenomas. An ophthalmologic exam did not reveal congenital hypertrophy of the retinal pigment epithelium. Adenomatous polyposis coli (APC) gene sequencing revealed that the patient was heterozygous for a deleterious mutation of the APC gene. The patient subsequently underwent a Whipple procedure and a total proctocolectomy with ileo-anal J-pouch. Familial adenomatous polyposis (FAP) is a rare condition that occurs in 1/10,000 to 1/30,000 newborns, and is respon