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 95L2
2024/10 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。
- 2026-09病例报告开放获取When lesion-directed therapy is not enough: blue rubber bleb nevus syndrome in a young adult—a case report
- 2026-09综述开放获取From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity
- 2026-09开放获取Blue Rubber Bleb Nevus Syndrome
- 2026-09病例报告When lesion-directed therapy is not enough: blue rubber bleb nevus syndrome in a young adult-a case report
- 2026-09Blue rubber bleb nevus syndrome as an uncommon cause of gastrointestinal overt bleeding: a diagnostic and therapeutic challenge
- 2026-09开放获取The Sheffield Scoring System: An 8-Year Descriptive Cohort Analysis of a Tool for Predicting the Need for Endoscopic Hemostatic Intervention in Pediatric Patients with Upper Gastrointestinal Bleeding at a Tertiary Hospital in Khon Kaen, Thailand
- 2026-09综述开放获取Current insights into the diagnosis and management of small bowel bleeding
- 2026-08综述开放获取Pathogenesis and molecular mechanisms of mutant TIE2-driven venous malformation
- 2026-08A high-sensitivity TIE2-GRB2 BRET platform for functional and pharmacologic profiling of pathogenic variants associated with venous malformations
- 2026-07开放获取Blue Rubber Bleb Nevus Syndrome Presenting as Severe Transfusion-Dependent Anemia in an Elderly Patient: An Unusual Cause of Lower Gastrointestinal Bleeding
- 2026-07病例报告开放获取Blue Rubber Bleb Nevus Syndrome with a Novel PDGFRA Variant and Comorbid Autism Spectrum Disorder: A Case Report
- 2026-07病例报告开放获取Laparoscopic resection of a small intestinal venous malformation presenting as acute bowel obstruction without hemorrhage in a child: a case report
- 2026-07综述开放获取Genotype-directed Targeted Therapy for Pediatric Vascular Malformations: A Systematic Review
- 2026-07综述病例报告开放获取Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature Review
- 2026-07Blue Rubber Bleb Nevus Syndrome
- 2026-06综述开放获取The role of enteroscopy in the diagnosis and interventional management of small intestine diseases
- 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
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）