ABSTRACT

Polyps are abnormal growths of tissue that arise from the gastrointestinal (GI) mucosa and project into the GI lumen. GI polyps can be commonly encountered during childhood and are one of the most common causes of rectal bleeding in this age group. The most commonly encountered neoplasms of the GI tract in children come from lymphoid and epithelial tissues, with mesenchymal tumors being less frequent. Patients with familial adenomatous polyposis (FAP) can have extraintestinal manifestations including subcutaneous cysts, desmoid tumors, dental abnormalities, exostosis, and pigmented ocular lesions. FAP is the most common of the polyposis syndromes in childhood and is inherited in an autosomal dominant manner, although spontaneous mutations can occur in about 20–30% of cases. Genetic studies may also be used to help delineate the diagnosis of a polyposis syndrome. Asymptomatic first-degree relatives of patients with juvenile polyposis syndrome should be screened for the disease, as they are at risk for juvenile polyposis and colorectal cancer.