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以缺铁性贫血和巨大结肠息肉为表现的黑斑息肉综合征

Peutz-Jeghers Syndrome Presenting With Iron-Deficiency Anaemia and a Giant Colonic Polyp.

作者信息

Naher Naznin, Al Masud Abdullah, Biswas Sunil Kumar, Imam Hasan, Hasan Md Nazmul

机构信息

Department of Internal Medicine, Bangabandhu Sheikh Mujib Medical University, Dhaka, BGD.

Internal Medicine, St. Louis University School of Medicine, Missouri, USA.

出版信息

Cureus. 2025 Feb 4;17(2):e78520. doi: 10.7759/cureus.78520. eCollection 2025 Feb.

Abstract

Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant disorder that manifests as mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal system. Pigmentation of the skin and mucous membranes may be present from birth, but it typically appears in early childhood and can sometimes develop later. In addition to an increased lifelong risk of cancers and problems, such as gastrointestinal bleeding from polyposis, hamartomatous polyps can develop in the stomach, small bowel, or colon. In order to prevent difficulties associated with intestinal and extraintestinal malignancies in patients diagnosed with PJS, routine screening is essential. We report a case of a 19-year-old young girl who presented with intermittent episodes of abdominal pain and a few occasions of fresh per rectal bleeding, as well as features of anaemia.

摘要

黑斑息肉综合征(PJS)是一种罕见的常染色体显性疾病,表现为皮肤黏膜色素沉着和胃肠道系统的错构瘤性息肉。皮肤和黏膜色素沉着可能在出生时就存在,但通常在幼儿期出现,有时也会在以后发展。除了终身患癌症和出现诸如息肉病引起的胃肠道出血等问题的风险增加外,错构瘤性息肉还可发生于胃、小肠或结肠。为了预防被诊断为PJS的患者出现与肠道和肠道外恶性肿瘤相关的问题,常规筛查至关重要。我们报告一例19岁年轻女孩的病例,她出现间歇性腹痛、几次直肠新鲜出血以及贫血症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cea5/11885176/1dfbad6705fc/cureus-0017-00000078520-i01.jpg

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