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Journal of Coloproctology (Rio de Janeiro)

Print version ISSN 2237-9363


TORRES NETO, Juvenal da Rocha et al. Peutz-Jeguers syndrome: case report and literature review. J. Coloproctol. (Rio J.) [online]. 2012, vol.32, n.1, pp.75-78. ISSN 2237-9363.

The Peutz-Jeghers syndrome is a rare disease characterized by the presence of mucocutaneous melanic pigmentation of the lips, oral mucosa and perioral region, associated with hamartomatous intestinal polyposis. Malignization of the polyps and association with other types of cancer are also usual. Case report: 32-year-old patient, female, white, who had an intestinal occlusion by invagination, discovered during laparotomy, when an intestinal tumor was found as well. The material was sent to anotomopathological analysis. However, the results did not allow to identify the tumor nature due to tumor necrosis. Then, the patient was sent to our service because of the intestinal polyps, and during the interview, the characteristic melanic pigmentation was observed. Videocolonoscopy was performed, with excision of two rectal polyps, identified in the anatomopathological exam as hamartomatous polyps. The patient reported anal imperforation at birth, just like her brother. He had unexplained death. The authors found no correlation of the Peutz-Jeghers syndrome with anal imperforation in the literature and asked the patient if her brother also had the syndrome.

Keywords : Peutz-Jeghers syndrome; polyposis; hamartomatous intestinal; anus, imperforate; hyperpigmentation.

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