一名儿科患者模仿 Peutz-Jeghers 综合征的粘膜脱垂综合征

JPGN reports Pub Date : 2024-01-29 DOI:10.1002/jpr3.12022
Phinga Do, Claudia Phen, Michele Alkalay, Vivekanand Singh, Isabel Rojas
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摘要

粘膜脱垂综合征(MPS)是一组罕见的良性疾病,其特点是有一系列统一的组织学发现,被认为是反复粘膜剪切和粘膜下血管充血造成的。由于其临床表现、外观和罕见性,这组病症经常被误诊为其他息肉病综合征、炎症性肠病或恶性肿瘤。我们报告了一例 15 岁男性无痛直肠出血病例。他被发现患有四个直肠息肉,被认为是由 Peutz-Jeghers 综合征引起的。一年后,他再次接受结肠镜检查并进行活检,结果确诊为 MPS。我们的病例凸显了火腿肠息肉和粘膜脱垂组织学在形态上的相似性。由于 MPS 即使在成人中也是一种罕见的诊断,因此在儿科中还没有很好的描述。该综合征应作为小儿直肠息肉的鉴别诊断,以避免不必要的侵入性检查和延误治疗。
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Mucosal prolapse syndrome mimicking Peutz–Jeghers syndrome in a pediatric patient
Mucosal prolapse syndrome (MPS) is a rare group of benign conditions characterized by a set of unifying histologic findings thought to be the result of repeated mucosal shearing and submucosal vascular congestion caused by straining. This set of conditions is often misdiagnosed as other polyposis syndromes, inflammatory bowel disease, or malignancy due to its clinical presentation, appearance, and rarity. We report a case of a 15‐year‐old male who presented with painless rectal bleeding. He was found to have four rectal polyps thought to be due to Peutz–Jeghers syndrome. A repeat colonoscopy with biopsies a year later revealed a diagnosis of MPS. Our case highlights the morphologic similarity between hamartomatous polyp and mucosal prolapse histology. Since MPS is a rare diagnosis even among the adult population, it has not been well described in pediatrics. This syndrome should be on the differential diagnosis for pediatric rectal polyps to prevent unnecessary invasive testing and a delay in treatment.
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