Shewaye Abate Bane, Berhane Kaleb Assefa
Department of Internal Medicine, Adera Medical and Surgical Center, Addis Ababa, Ethiopia.
Department of Internal Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Case Rep Gastrointest Med. 2025 May 7;2025:3667487. doi: 10.1155/crgm/3667487. eCollection 2025.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal (GI) tract, pigmented mucocutaneous lesions, and an increased risk of cancer. We report a case of a 22-year-old male from Ethiopia who presented with recurrent abdominal pain and a history of surgery for bowel obstruction. Endoscopic evaluation revealed multiple polyps in the stomach, ileum, and colon, which were confirmed histopathologically as hamartomatous polyps. Mucocutaneous pigmentation and family history of GI symptoms and maternal breast cancer led to the diagnosis of PJS, despite the unavailability of genetic testing. The patient underwent therapeutic polypectomy and was advised on cancer surveillance. This case highlights the importance of recognizing and managing PJS in resource-limited settings, emphasizing the need for early diagnosis and vigilant surveillance to prevent complications, especially when genetic testing may not be readily available.
佩-吉二氏综合征（PJS）是一种罕见的常染色体显性疾病，其特征为胃肠道错构瘤性息肉、皮肤黏膜色素沉着病变以及患癌风险增加。我们报告一例来自埃塞俄比亚的22岁男性病例，该患者反复出现腹痛，并有肠梗阻手术史。内镜检查发现胃、回肠和结肠有多个息肉，经组织病理学确诊为错构瘤性息肉。尽管无法进行基因检测，但皮肤黏膜色素沉着以及胃肠道症状家族史和母亲患乳腺癌史导致该患者被诊断为PJS。该患者接受了治疗性息肉切除术，并接受了癌症监测建议。该病例凸显了在资源有限的环境中识别和管理PJS的重要性，强调了早期诊断和警惕监测以预防并发症的必要性，尤其是在基因检测可能无法轻易获得的情况下。
