蓝色橡皮疱样痣
Blue rubber bleb nevus syndrome
定义 英文原文（暂无中文）
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
别名
Bean综合征
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 儿童期
- 患病率
- 1-9 / 100 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TEK | TEK receptor tyrosine kinase | Disease-causing somatic mutation(s) in |
临床表型 13
极常见 99–80%6
- 动静脉畸形 HP:0100026
- 骨痛 HP:0002653
- 海绵状血管瘤 HP:0001048
- 出血时间延长 HP:0003010
- 皮疹 HP:0000988
- 内脏血管瘤病 HP:0100761
常见 79–30%5
- 凝血异常 HP:0001928
- 脉管系统异常 HP:0002597
- 肠道出血 HP:0002584
- 皮下结节 HP:0001482
- 肠扭转 HP:0002580
偶见 29–5%2
- 胃肠道梗塞 HP:0005244
- 小细胞性贫血 HP:0001935
近两年的全球研究 84L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-07Blue Rubber Bleb Nevus Syndrome Presenting as Severe Transfusion-Dependent Anemia in an Elderly Patient: An Unusual Cause of Lower Gastrointestinal Bleeding
- 2026-07Blue Rubber Bleb Nevus Syndrome
- 2026-06病例报告Refractory Blue Rubber Bleb Nevus Syndrome in an Adult: Limitations of Endoscopic Therapy and Sirolimus
- 2026-06病例报告Bean syndrome in childhood: Use of sirolimus in a severe case
- 2026-06病例报告开放获取Endovascular treatment of an intraosseous dural arteriovenous fistula of the greater wing of the sphenoid: A case report and literature review
- 2026-06Erratum for: Blue Rubber Bleb Nevus Syndrome
- 2026-05综述开放获取Sirolimus Treatment for Complex Fetal and Neonatal Vascular Anomalies: Emerging Evidence and Safety Considerations
- 2026-05病例报告开放获取Blue rubber bleb nevus syndrome with concurrent esophageal carcinoma: A case report
- 2026-04综述病例报告开放获取Blue rubber bleb nevus syndrome complicated with esophageal squamous carcinoma: A case report with robotic-assisted resection and literature review
- 2026-04病例报告开放获取Transfusion-Dependent Anemia Secondary to Bowel Hemangiomas Managed With Sirolimus Therapy: A Case Report and Literature Review
- 2026-04开放获取Double-balloon enteroscopy-guided sclerotherapy for a rare case of blue rubber bleb nevus syndrome
- 2026-03开放获取Japanese clinical practice guidelines for vascular tumors, vascular malformations, lymphatic malformations, and lymphangiomatosis 2022
- 2026-03综述开放获取Japanese Clinical Practice Guidelines for Vascular Tumors, Vascular Malformations, Lymphatic Malformations, and Lymphangiomatosis 2022
- 2026-03综述开放获取Japanese Clinical Practice Guidelines for Vascular Tumors, Vascular Malformations, Lymphatic Malformations, and Lymphangiomatosis 2022
- 2026-03综述开放获取Japanese clinical practice guidelines for vascular tumors, vascular malformations, lymphatic malformations, and lymphangiomatosis 2022
- 2026-03病例报告开放获取Blue Rubber Bleb Nevus Syndrome: Case-Driven Insights Into a Rare Cause of Refractory Gastrointestinal Bleeding
- 2026-03开放获取Low-flow vascular malformations without arteriovenous shunting of the central nervous system: a pictorial review
- 2026-02开放获取Multiple Blue-Coloured Nodules on the Whole Body
- 2026-02病例报告开放获取Neuroradiologic appearance of intracranial vascular lesions associated with multiple lymphangioendotheliomatosis with thrombocytopenia
- 2026-02综述开放获取Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview
在中国开展的临床试验 1L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
当前没有检索到登记为可入组的试验。
其他状态的试验（1 项）
- 状态未知NCT03767660Efficacy of Rapamycin (Sirolimus) in the Treatment of BRBNS, Hereditary or Sporadic Venous Malformation中国研究中心 1 个：Beijing
中国境外的在招试验 1L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国1
共 1 项。
- 招募中NCT02399527Lymphatic Anomalies Registry for the Assessment of Outcome Data美国
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）