Polyps of malignancy: Gardner's syndrome

Abstract

Gardner's syndrome is a hereditary autosomal dominant disorder with complete penetrance and variable expression. The disease is characterized by multiple intestinal polyps, osteomas and supernumerary teeth. Gardner's syndrome is linked to mutations on the long arm of chromosome 5 (5q21-q22) referred to as the adenomatous polyposis locus. It has 100% potential for malignant change. Increase in loss of heterozygosity percentages of chromosome 18q21 have suggested that 'Deleted in Colon Cancer' (DCC) gene may be involved in the progression of benign adenomas to malignant carcinomas. We report a case of Gardner's syndrome with similar findings along with presence of multiple epidermal inclusion cysts. The patient's father had died of intestinal cancer. An oral physician may be the first person diagnosing the condition based on orofacial manifestation. Early recognition of this disease can be lifesaving to the patient.