蓝色橡皮疱痣综合征的研究进展
Research Progress of Blue Rubber Bleb Nevus Syndrome
DOI: 10.12677/acm.2025.154918, PDF,   
作者: 纪凯彬, 龚晓兵*：暨南大学附属第一医院消化内科，广东 广州
关键词: 蓝色橡皮疱痣综合征；发病机制；诊断；治疗；Blue Rubbery Nevus Syndrome； Pathogenesis； Diagnosis； Treatment
摘要: 蓝色橡皮疱痣综合征(blue rubber bleb nevus syndrome, BRBNS)是一种罕见的先天性血管畸形疾病，主要表现为皮肤和胃肠道的多发性静脉畸形，并可能累及其他器官。其病因可能与TEK/TIE2基因突变及PI3K/AKT/mTOR信号通路的异常激活有关。临床表现多样，主要症状包括慢性消化道出血及继发性贫血。诊断依赖于特征性皮肤病变及内镜检查，并需与其他血管畸形疾病鉴别。目前尚无标准有效的治疗方法，无法治愈，多以对症治疗为主。总之，BRBNS的发病机制仍不明确，临床上极易漏诊或误诊，尚缺乏统一的治疗标准，基于此，本文对BRBNS的流行病学、病因及发病机制、病理生理、临床表现、诊断和治疗等方面进行综述，以期提高临床对该病的认识，改善患者预后。
Abstract: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disorder characterized by multiple venous malformations, primarily affecting the skin and gastrointestinal tract, with possible involvement of other organs. It is associated with TEK/TIE2 gene mutations and abnormal activation of the PI3K/AKT/mTOR signaling pathway. The main clinical manifestations include chronic gastrointestinal bleeding and secondary anemia. Diagnosis relies on characteristic skin lesions and endoscopic examination, requiring differentiation from other vascular malformations. Currently, no standardized or curative treatment exists, and management focuses on symptomatic relief. Due to its unclear pathogenesis, high misdiagnosis risk, and lack of treatment guidelines, this review summarizes the epidemiology, etiology, pathophysiology, clinical features, diagnosis, and management of BRBNS to enhance clinical awareness and improve patient outcomes.
文章引用：纪凯彬, 龚晓兵. 蓝色橡皮疱痣综合征的研究进展[J]. 临床医学进展, 2025, 15(4): 192-197. https://doi.org/10.12677/acm.2025.154918

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