Madera Noelia, Acevedo Noemí, González-Peralta Carmen, Castro Rafael, Mezquita-Luna Vismelis
Internal Medicine, Clínica Corominas, Santiago, DOM.
Medicine, Pontificia Universidad Católica Madre y Maestra, Santiago, DOM.
Cureus. 2024 Jul 6;16(7):e63943. doi: 10.7759/cureus.63943. eCollection 2024 Jul.
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.
佩-吉二氏综合征(PJS)是一种罕见的常染色体显性遗传病,其特征除其他体征外,还包括错构瘤型肠息肉病和皮肤色素沉着区域。此外,孤立性佩-吉二氏息肉的发生极为罕见。我们报告一例50岁女性病例,她有甲状腺功能减退、慢性胃炎和血脂异常病史,出现消化不良症状并偶尔有直肠出血。内镜检查发现胃体有一个孤立的错构瘤性息肉及其他胃肠道异常。该患者接受了治疗,并通过定期内镜检查和评估其他潜在肿瘤进行监测。本病例强调了将该综合征作为潜在鉴别诊断的重要性。它强调了采用多学科方法管理和监测此类病例的必要性,特别是早期发现可能的肿瘤。