Abstract
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanin deposits and hamartomatous polyps of the gastrointestinal tract. Intussusception and intestinal bleeding are the usual symptoms. An increased risk for gastrointestinal and non-gastrointestinal cancer have been described. We report a case of familiar PJS, the recently described mutation in the gene STKI 1 and the management of PJS, with emphasis on the endoscopic resection of the polyps on an outpatient basis. The first degree relatives of an index case should be followed up annually since birth. Once the diagnosis is certain the approach must be aggressive. Gastric and colonic polyps larger than 5mm and small bowel polyps larger than 15 mm should be removed. Early screening for cancer is crucial.
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