Cowden syndrome (CS), also called multiple hamartoma syndrome, is a syndrome characterized by cutaneous findings, in addition to polyposis, and a significant risk for development of extra-intestinal malignancy. The disease is associated with a mutation in the PTEN/MMAC1 gene on chromosome 10 that is found in about 80% of patients
meeting strict Consortium criteria for the syndrome. Diagnostic criteria have been published (Eng, 2000) and include mucocutaneous lesions (facial trichilemmomas, acral keratoses, papillomatous papules), malignancies (breast, thyroid, and endometrial) and GI findings (hamar-tomas of the stomach, SB, and colon and glycogen acan-thosis in the esophagus) (Figures 95-4 and 95-5). The hamartomas include juvenile polyps, lipomas, and ganglioneuromas. Juvenile polyps are the most common and, characteristically, contain neural elements. Two variants of CS have been described. Bannayan-Riley-Ruvalcaba syndrome is associated with typical CS findings and macro-cephaly, delayed psychomotor development, lipomatosis, hemangiomatosis, and pigmented macules of the glans penis. Lhermitte-Duclos disease is characterized by hamar-tomatous growths in the cerebellum.
GI malignancy risk is not well defined in this population, though colon cancer risk appears to be slightly above the general population (9%). Particularly concerning, however, is the lifetime risk of breast cancer (25 to 50%), thyroid cancer (10%), and endometrial cancer (2 to 5%). Although no specific screening recommendations exist for GI cancers, surveillance for extra-intestinal malignancies is recommended and summarized in Tables 95-1 and 95-2. In our institution, we generally perform an initial colonoscopy and continue surveillance depending on the number of polyps.
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