PEDIATRIC SURGERY Update

Gardner=s syndrome refers to a group of children born with familial adenomatous (multiple) polyposis and significant extracolonic manifestations. Familial adenomatous polyposis is an autosomal dominant disorder originating from a germline alteration of the adenomatous polyposis coli gene in the long arm of chromosome 5. The most significant extracolonic manifestation of Gardner=s syndrome consists of soft tissue (desmoid) tumors and osteomas. Bowel cancer develops in one-third of patients with Gardner=s syndrome from malignant degeneration of the adenomatous polyps. Desmoid tumors are typically benign but locally aggressive slow-growing tumors that surround and compress adjacent vascular structures and viscera. Affected children are asymptomatic until they manifest rectal bleeding or multiple soft/hard tissue tumors. Osteomas appear in the mandible causing dental abnormalities (odontomas, cementomas, cysts, supernumerary teeth). Surveillance by colonoscopy is imperative in affected family members. Development of a subcutaneous fibroma single or multiple that recurs as a desmoid tumor is a sentinel event identifying children with Gardner=s syndrome. Management of Gardner=s syndrome consists of excision of the soft/hard tissue tumor and removal of the affected colon (proctocolectomy) with preservation of the sphincteric muscle mechanism. Sulindac has been reported to produce drug-induced complete regression of colonic adenomas in Gardner=s syndrome.