Solitary hamartomatous polyps with identical pathological features of the typical hamartomas of the Peutz-Jegher syndrome are extremely rare. These solitary lesions lack the associated intestinal polyposis, classic mucocutaneous pigmentation, and family history typifying the Peutz-Jegher syndrome. We describe the case of a 31-year-old woman with a giant solitary gastric hamartoma endoscopically diagnosed and laparoscopically resected.
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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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