Multipe Tumors Endoscopic Excision In PJS

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11 years ago

Case description

Peutz Jaghers Syndrome (called also PJS) consists of ovaries, testes and breast tumors, gastrointestinal mutiplyposis and cutaneous pigmentation changes. It is caused by mutation of 19 chromosome STK11/LBK1 gene and is inherted in a dominant way but with incomplete penetrance. First sympthoms are changes in a skin pigmentation (face regions, limbs and genital areas). Polyps can occur in a stomach, colon and most frequent inside a small intestine. Polyps can be the reason of infant obstrucion. The disease can be complicated with melena and severe intestinal bleeding. Case report: 25-year old male with hyperpigmentation of the mucosis and polyposis of the stomach and duodenum presented with polyps bleeding. He was adviced undergoing a total gastrectomy procedure. Intervention:the patient had panendoscopy examination including polyp size and stalk assessment. Flat polyps underwent salline injection in order to raise them and then were coagulated. Pathological examination revealed the polyps to be hamartomous without any canceration. During one year follow up the patient didn't show any further bleeding signs.

tags: PJS peutz jaghers syndrome polyposis gastrointestinal polyposis genetic disease

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