Gardner syndrome—review and report of a case

Abstract

Gardner syndrome represents one end of the spectrum of the disorder known as familial adenomatous polyposis (FAP). The syndrome consists of intestinal polyps which are predominantly adenomas, together with extracolonic features including osteomas, epidermoid cysts, desmoid tumours and dental abnormalities. Desmoid tumours, although histologically benign, may behave aggressively and can cause death in some patients. Several other neoplasms are also associated with Gardner syndrome. The inheritance pattern is autosomal dominant, with a locus on chromosome 5. However, 20% of cases may represent new mutations. The intestinal polyps carry a 100% risk of malignant change, and early diagnosis is therefore essential. As the extracolonic manifestations of the disorder often precede the colonic polyps, they may facilitate early identification of affected patients and allow timely intervention. Several of these manifestations occur in the oral and maxillofacial region and may be discovered during routine dental examination. We report a case of a 37-year-old patient with Gardner syndrome, who has previously undergone a pancolectomy with ileo-rectal anastomosis. Extracolonic features include a recurrent abdominal desmoid tumour, multiple epidermoid cysts, osteomas of the mandible and skull, and dental abnormalities.