蓝色橡皮泡痣综合征一例报道并文献复习

Blue Rubber Bleb Nevus Syndrome:a Case Report and Literature Review

蓝色橡皮泡痣综合征是一种以皮肤及消化道等内脏器官多发血管畸形或血管瘤为特征的罕见疾病,迄今为止文献报道仅200余篇.由于其发病率低,临床医生认识不足,极易误诊或漏诊.为此,本文报道了四川省人民医院收治的一例男性蓝色橡皮泡痣综合征患者,以反复腹痛伴消化道出血为主要表现,经相关辅助检查后最终确诊为蓝色橡皮疱痣综合征,旨在提高临床医生对此病的认识.

Blue rubber bleb nevus syndrome(BRBNS)is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs,especially in gastrointestinal tract.Only about 200 case reports were published to date.Due to its low incidence,it is usually misdiagnosed or miss diagnosed.We reported a male BRBNS patient who referred to Sichuan Provincial People's Hospital for recurrent abdominal pain and gastrointestinal bleeding.After relevant auxiliary examinations,we confirmed the diagnosis of BRBNS.The main objective of this case report is to present diagnostic and treatment features of this condition and to help physicians to enhance the awareness of this syndrome.