Sharma Himanshu, Kaushik Deepika
Department of Surgical Oncology, Tata Medical Center, Newtown, Kolkata India.
Department of Anesthesia, Tata Medical Center, Kolakata, India.
Indian J Surg Oncol. 2022 Jun;13(2):262-266. doi: 10.1007/s13193-021-01448-9. Epub 2021 Sep 11.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant familial hamartomatous polyposis syndrome characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. We report two cases, with no family history, presenting as emergency, one with perforation peritonitis due to spontaneous bowel disruption and another with bowel gangrene due to severe bowel congestion secondary to intussusception. Histological examination showed features of hamartomatous polyposis; other clinical features in these patients were suggestive of the diagnosis of Peutz-Jeghers syndrome. Given the multitude of carcinoma that these patients are susceptible to, aggressive screening protocols are recommended. Close monitoring and follow-up are essential in PJS patients for the prevention of potential complications, early detection of related malignancies due their increased risk for both intestinal and extraintestinal malignancies.
黑斑息肉综合征（PJS）是一种常染色体显性遗传性家族性错构瘤性息肉病综合征，其特征为多发胃肠道错构瘤性息肉和皮肤黏膜黑色素沉着。我们报告两例无家族史的急症病例，一例因自发性肠破裂导致穿孔性腹膜炎，另一例因肠套叠继发严重肠充血导致肠坏疽。组织学检查显示错构瘤性息肉病特征；这些患者的其他临床特征提示黑斑息肉综合征的诊断。鉴于这些患者易患多种癌症，建议采用积极的筛查方案。对于黑斑息肉综合征患者，密切监测和随访对于预防潜在并发症、早期发现相关恶性肿瘤至关重要，因为他们患肠道和肠道外恶性肿瘤的风险增加。
