Shakil Sidra, Aldaher Zackery, DiValentin Louis
Internal Medicine, Alabama College of Osteopathic Medicine, Dothan, USA.
Internal Medicine, Regional Medical Center Anniston, Anniston, USA.
Cureus. 2022 Jul 1;14(7):e26481. doi: 10.7759/cureus.26481. eCollection 2022 Jul.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by hamartomatous polyps, primarily in the gastrointestinal tract and mucocutaneous pigmented macules. PJS patients are at an increased lifetime risk of malignancies and complications, such as gastrointestinal bleeding from polyposis. Routine screening is critical in patients diagnosed with PJS in order to avoid complications. We report a case of a 30-year-old female with PJS who had no family history presenting acutely due to gastrointestinal bleeding and poor surveillance of her condition.
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传病，其特征为错构瘤性息肉，主要见于胃肠道以及黏膜皮肤色素沉着斑。PJS患者一生中发生恶性肿瘤和并发症的风险增加，如息肉病导致的胃肠道出血。对于确诊为PJS的患者，常规筛查对于避免并发症至关重要。我们报告一例30岁患有PJS的女性患者，她无家族病史，因胃肠道出血及病情监测不佳而急性发病。
