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- Definition: variant of familial adenomatous poliposis (FAP) with autosomal dominant transmission.
- Clinical: GI polyps, multiple osteomas, and skin and soft tissue tumors.
- Cutaneous findings: epidermoid cysts, desmoid tumors, and other benign tumors ( fibromas, lipomas, leiomyomas, neurofibromas, pigmeneted skin lesions)
- Other associated neoplasms include: periampullary carcinoma (ampulla of Vater, reported in 12% of patients with FAP, usually after colectomy); CNS tumors- medulloblastoma, glioblastoma, and craniopharyngioma (found in FAP subgroup in Turcot syndrome); other: osteosarcoma, chondrosarcoma, hepatoblastoma, liposarcoma, thyroid carcinoma (especially in female patients)
- Polyps have a 100% risk of undergoing malignant transformation; consequently, early identification of the disease is critical.