蓝色橡皮疱痣综合征1例并文献复习  

Blue Rubber Blister Nevus Syndrome: A Case Report and Literature Review

作　　者：王秋月 冯璐 李浩 张硕 刘璐 张堃 魏良洲[2] 

机构地区：[1]青岛大学医学部,山东 青岛 [2]青岛大学附属医院消化内科,山东 青岛

出　　处：《临床医学进展》2021年第3期1367-1373,共7页Advances in Clinical Medicine

摘　　要：目的:报道我院收治的1例蓝色橡皮疱痣综合征(Blue rubber bleb nevus syndrome, BRBNS)患者,并结合既往文献资料进行复习,提高国内医生对BRBNS的认识。方法:总结该患者的临床表现、内镜资料,并查阅以往的文献报道,总结BRBNS的病因、发病机制、临床表现、诊断和治疗。结果:BRBNS的典型特征为皮肤及消化道多发性血管畸形,临床上主要表现为慢性隐匿性消化道出血和缺铁性贫血,还可累及全身其他器官。结论:BRBNS是一种罕见疾病,其病因可能与基因突变有关,常累及全身多脏器,现有的治疗方案不统一,临床上治疗时需充分评估病情,权衡获益与风险。Objective: To report a case of blue rubber blister nevus syndrome (BRBNS) treated in our hospital, and review the previous literature to improve domestic doctors’ understanding of BRBNS. Methods: Summarize the patient’s clinical manifestations, endoscopic data, and consult previous literature reports to summarize the etiology, pathogenesis, clinical manifestations, diagnosis and treatment of BRBNS. Results: The typical characteristics of BRBNS are multiple vascular malformations of skin and digestive tract, and the main clinical manifestations are chronic occult gastrointestinal bleeding and iron deficiency anemia, and can also involve other organs. Conclusion: BRBNS is a rare disease, and its etiology may be related to gene mutation, often involving multiple organs. The existing treatment regimens are not unified. It is necessary to fully evaluate the condition and weigh the benefits and risks in clinical treatment.

关 键 词：橡皮疱痣综合征 血管瘤 消化道出血 

分 类 号：R73[医药卫生—肿瘤]