PDF(Pubmed)
Abstract：
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic condition characterized by the development of hamartoma-type intestinal polyposis and areas of skin pigmentation, among other signs. Additionally, the occurrence of solitary Peutz-Jeghers polyps is exceedingly rare. We present the case of a 50-year-old female with a medical history of hypothyroidism, chronic gastritis, and dyslipidemia, who presented with dyspeptic symptoms and occasional rectal bleeding. Endoscopic examination revealed a solitary hamartomatous polyp in the gastric body and other gastrointestinal abnormalities. The patient underwent treatment and is being monitored with regular endoscopic studies and evaluations for other potential neoplasms. This case underscores the importance of considering the syndrome as a potential differential diagnosis. It emphasizes the necessity of a multidisciplinary approach to managing and monitoring such cases, particularly the early detection of possible neoplasms.
摘要：
Peutz-Jeghers综合征（PJS）是一种罕见的常染色体显性遗传病，其特征是错构瘤型肠息肉病的发展和皮肤色素沉着区域，在其他迹象中。此外,孤立的Peutz-Jeghers息肉的发生极为罕见。我们介绍了一个有甲状腺功能减退症病史的50岁女性，慢性胃炎,和血脂异常，出现消化不良症状和偶尔直肠出血。内窥镜检查显示胃体有孤立的错构瘤息肉和其他胃肠道异常。患者接受了治疗，并正在接受定期内窥镜研究和其他潜在肿瘤评估的监测。该病例强调了将该综合征视为潜在鉴别诊断的重要性。它强调必须采取多学科方法来管理和监测此类案件，特别是早期发现可能的肿瘤。
