Reference work entry
Gastrointestinal polyposis syndromes; Hereditary polyposis syndromes
Gastrointestinal polyposis syndrome is characterized by the presence of at least 15 polyps dispersed throughout the gastrointestinal tract. Most polyposis syndromes however present with hundreds of polyps in the gastrointestinal tract. These are rare, autosomal dominant syndromes characterized by multiple polyps and a high risk for gastrointestinal and extraintestinal cancer. Polyposis syndromes are classified by the polyp type, age of presentation, gastrointestinal distribution, number of polyps, presence of extraintestinal findings, and the underlying germline genetic abnormality. They are characterized and named by the predominant polyp type (e.g., juvenile polyp and juvenile polyposis syndrome). Extraintestinal findings include congenital retinal hypertrophy, osteomas, perioral pigmentation, epidermoid cysts, subcutaneous lipomas, sebaceous gland tumors, medulloblastoma, and hepatoblastoma....
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