Gardner Syndrome

Gardner syndrome is a phenotypic variant of familial adenomatous polyposis. It is an autosomal dominant disease characterized by numerous adenomatous polyps lining the intestinal mucosal surface with a high potential for malignancy. Gardner first described the syndrome in 1951. He described the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic manifestations may include intestinal polyposis, desmoids, osteomas, and epidermoid cysts. Typically, patients with Gardner syndrome may present with osteomas of the mandible and skull, epidermal cysts, or fibromatosis. These manifestations are often found to be asymptomatic but may present with pruritus, inflammation, and rupture. Various non-cutaneous manifestations also exist with this syndrome. A characteristic finding is bilateral, multiple, pigmented, ocular fundus lesions, known as congenital hypertrophy of the retinal epithelium. The development of intestinal polyposis and colorectal adenocarcinoma are key features of Gardner syndrome. Other neoplasms have also been found, such as duodenal carcinomas around the ampulla of Vater, hepatoblastoma, adrenal adenomas, papillary or follicular thyroid cancer.