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To investigate the clinicopathological features, diagnosis, genetic alterations, and biological behaviors of hamartomatous inverted hyperplastic polyp (HIHP) in the gastrointestinal tract. The clinical, sonographic, endoscopic and pathologic data of 10 HIHP cases diagnosed at the First Affiliated Hospital of Air Force Medical University, Xi'an, China from January 2013 to March 2024 were collected. Their clinicopathological features and histological morphology were analyzed.

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Retrorectal cystic hamartomas ("Tailgut cysts") are rare developmental cysts that appear in the retrorectal space, arising from aberrant remnants of the post-anal primitive gut in case of an incomplete embryogenetic involution. We present the case of a 30-year-old woman with a history of chronic lower abdominal pain. Other digestive symptoms, like rectal fullness, constipation, pain on defecation, rectal bleeding or genitourinary obstruction symptoms, were not associated.

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Peutz-Jeghers syndrome - Be in need of vigilance: A case report.

J Family Med Prim Care

December 2024

Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.

Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene.

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Retrorectal cystic hamartoma (also known as tailgut cyst) is a congenital lesion that originates from debris from the embryonic caudal intestine. Incidentally diagnosed in more than half of cases, the treatment of choice is surgical resection. It is a very rare pathology whose oncological transformation constitutes a true pathological rarity.

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[Current research status of Peutz-Jeghers syndrome in children].

Zhongguo Dang Dai Er Ke Za Zhi

October 2024

Department of Digestive Nutrition, Hunan Children's Hospital, Changsha 410007, China.

Article Synopsis
  • - Peutz-Jeghers syndrome (PJS) is a rare genetic disorder caused by mutations in the STK11/LKB1 gene, leading to skin pigmentation and multiple polyps, which increase cancer risk.
  • - Complications of PJS include gastrointestinal issues like bleeding and blockage, with a high risk for intussusception in children that can affect their growth and require surgery.
  • - The article discusses the current knowledge on the clinical features, causes, diagnosis, and treatment options for PJS, particularly in pediatric patients.
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