The authors report a case of Peutz-Jeghers syndrome in a young patient revealed by a duodenal carcinoma developed in a hamartomatous polyp. The absence of adenomatous lesion a the level of duodenal tumour, and the presence of hamartomatous lesions, particularly smooth muscular fibres, contiguous to carcinomatous glands, are favorable to a degenerescence of hamartomatous polyp. The question of malignant change or of the association of digestive carcinomas is discussed.
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Article Synopsis
- Peutz-Jeghers syndrome (PJS) is a rare genetic disorder that causes gastrointestinal polyps and skin pigmentation, leading to complications like abdominal pain and intestinal obstruction from intussusception.
- A case study details a 36-year-old woman with symptoms such as flank pain and melena, who was diagnosed with PJS after imaging and surgery revealed jejuno-jejunal intussusception and multiple polyps.
- PJS stems from mutations in the STK11 gene, and regular screenings are vital for detecting cancer and monitoring polyp growth, with surgical intervention recommended for significant polyps and intussusception cases.
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