Something not quite right: Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing

摘要

Gardner syndrome is a variant of familial adenomatous polyposis characterized by intestinal adeno-matous polyps, which can progress to adenocarcinoma, and a variety of extraintestinal manifestations, including skin cysts, osteomas, soft tissue fibrous tumours and a characteristic ocular lesion. The extraintestinal manifestations are often the presenting feature but are usually not sufficiently characteristic on their own to trigger recognition of the syndrome. We report a case of a 17-year-old female who had been treated by a number of specialists over a 13-year period for a variety of cutaneous lesions without a hereditary condition being suspected. Gardner syndrome was considered only after excision of subcutaneous fibrous tumours from the mastoid region and paraspinal area and was confirmed by genetic testing in spite of the patient's refusal to undergo colonic endoscopic examination. Subsequent resection revealed approximately 70 adenomatous colonic polyps in the colon and rectum but no invasive tumour, highlighting the benefits of genetic testing in treatment planning