遗传性大疱性表皮松解症
Inherited epidermolysis bullosa
定义 英文原文（暂无中文）
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
别名
遗传性大疱性表皮松解症
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 18来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| CD151 | CD151 molecule (Raph blood group) | ORPHA:300333 |
| COL17A1 | collagen type XVII alpha 1 chain | ORPHA:79406 |
| COL7A1 | collagen type VII alpha 1 chain | ORPHA:79411 |
| DSP | desmoplakin | ORPHA:158687 |
| DST | dystonin | ORPHA:412181 |
| EXPH5 | exophilin 5 | ORPHA:412189 |
| FERMT1 | FERM domain containing kindlin 1 | ORPHA:2908 |
| ITGA3 | integrin subunit alpha 3 | ORPHA:306504 |
| ITGA6 | integrin subunit alpha 6 | ORPHA:79403 |
| ITGB4 | integrin subunit beta 4 | ORPHA:158684 |
| JUP | junction plakoglobin | ORPHA:158687 |
| KLHL24 | kelch like family member 24 | ORPHA:508529 |
| KRT14 | keratin 14 | ORPHA:79399 |
| KRT5 | keratin 5 | ORPHA:79399 |
| LAMA3 | laminin subunit alpha 3 | ORPHA:79404 |
| LAMB3 | laminin subunit beta 3 | ORPHA:79404 |
| LAMC2 | laminin subunit gamma 2 | ORPHA:79404 |
| PLEC | plectin | ORPHA:79401 |
近两年的全球研究 41L2
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。
- 2026-06综述Artificial Intelligence in Inherited Epidermolysis Bullosa: Current Evidence, Challenges, and Future Directions
- 2026-06A Cross-sectional Study on Quality of Life in EB: Validation of the Italian QOLEB and Assessment in Italian Patients
- 2026-05Use of Tramadol in Pain Management of Neonates with Epidermolysis Bullosa: A Single-Center Experience
- 2026-05开放获取Use of Tramadol in Pain Management of Neonates with Epidermolysis Bullosa: A Single-Center Experience
- 2026-04[Inherited epidermolysis bullosa in Dakar : Descriptive cross-sectional study of 36 cases]
- 2026-03综述开放获取Mimicry in Cutaneous Malignancy-Rare Forms of Mycosis Fungoides as Diagnostic Pitfalls: A Narrative Review
- 2026-03开放获取Clinical and molecular spectrum of inherited epidermolysis bullosa in a Thai cohort: A 12-year retrospective study
- 2026-03综述开放获取The NLRP3 Inflammasome: Mechanisms of Activation, Regulation, and Therapeutic Opportunities
- 2026-02病例报告开放获取Topical Gentamicin in the Management of Bart Syndrome: A Case Report
- 2025-12病例报告开放获取Living donor kidney transplantation in a patient with inherited skin fragility disorder in a resource-limited setting: a case report
- 2025-11开放获取The lived experience and supportive care needs of Australian parents caring for children with Epidermolysis Bullosa: a qualitative descriptive analysis
- 2025-11开放获取Direct Immunofluorescence in Immunobullous Disorders of Skin With Histopathological Correlation Among Patients Attending a Tertiary Care Center
- 2025-11开放获取Kindler Syndrome: A Case Report From a Developing Country
- 2025-10病例报告开放获取Kindler Syndrome in a 24-Year-Old Male: A Clinical Diagnosis in the Absence of Genetic Testing: A Rare Case Report
- 2025-09开放获取Measurement properties of instruments used to measure health-related quality of life in pediatric and adults patients with inherited epidermolysis bullosa: A systematic review and meta-analysis protocol
- 2025-09综述Stem cell therapy: a promising frontier in modern medicine with a comprehensive overview of their biology and potential therapeutic applications in chronic non-healing cutaneous injuries
- 2025-09系统综述开放获取Orthodontic Treatment in Patients With Epidermolysis Bullosa (EB)-Clinical Practice Guidelines (CPG)
- 2025-08开放获取An International Online Survey on Oral Hygiene Issues in Patients with Epidermolysis Bullosa
- 2025-08开放获取miR-129-1-3p down-regulation promotes BAG cochaperone 3 (BAG3)-driven pro-fibrotic processes in primary fibroblasts from patients with recessive dystrophic epidermolysis bullosa
- 2025-08开放获取Consensus statements for the transdisciplinary care of patients with epidermolysis bullosa in South Africa: Part 1
境外已获批用于本病的药物 4L2
欧盟 2 项、美国 2 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Filsuvez欧盟2022-06-21birch bark extract该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型官方记录
- Vyjuvek欧盟2025-04-23beremagene geperpavec该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型官方记录
- Vyjuvek美国2023-05-19beremagene geperpavec-svdt该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型官方记录
- Zevaskyn美国2025-04-28prademagene zamikeracel该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型官方记录
已获孤儿药资格、尚未获批的在研药物（8 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- skin equivalent graft genetically corrected with a COL7A1-encoding SIN欧盟2009-04-30该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of dystrophic epidermolysis bullosa官方记录
- recombinant human type VII collagen美国2008-06-18该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of hereditary dystrophic epidermolysis bullosa (DEB)官方记录
- expanded allogeneic human dermal fibroblasts in hypothermosol(r)-FRS美国2009-08-20该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of Dystrophic Epidermolysis Bullosa.官方记录
- recombinant human collagen alpha-1 (VII) chain homo-trimer (rC7)美国2014-03-17该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of dystrophic epidermolysis bullosa官方记录
- autologous genetically modified human dermal fibroblasts美国2014-06-10该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of dystrophic epidermolysis bullosa.官方记录
- Angiotensin (1-7)美国2016-09-01该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of recessive dystrophic epidermolysis bullosa (RDEB).官方记录
- Highly branched poly(beta-amino ester) complexed with a nanoplasmid co美国2020-12-21该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型Treatment of dystrophic epidermolysis bullosa官方记录
- recombinant human type VII pro-collagen美国2024-12-02该药获批用于营养不良大疱性表皮松解症——本病种下的一个亚型treatment of dystrophic epidermolysis bullosa官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
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）
- 进行中·不再招募NCT06073132An International, Multicenter, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study With Open-Label Extension Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS)中国研究中心 1 个：Guangzhou
中国境外的在招试验 27L2
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14法国6希腊2西班牙2意大利1瑞典1加拿大1波兰1日本1英国1Iran1荷兰1
共 25 项。
- 尚未开始招募NCT07717736Phase 4 Master Protocol for Patients Prescribed Prademagene Zamikeracel for the Treatment of Wounds
- 尚未开始招募NCT07756138Filsuvez in Moderate-to-Severe Epidermolysis Bullosa Simplex美国
- 尚未开始招募NCT07240649Emerging Indications for Hyperbaric Oxygen Treatment
- 招募中NCT07482787Efficacy and Safety Study to Evaluate SD-101 in Epidermolysis Bullosa美国
- 尚未开始招募NCT07482813An Open Label Extension Safety Study to Evaluate SD-101 in Epidermolysis Bullosa
- 尚未开始招募NCT07684105Treatment of Dysphagia in Patients With Dystrophic Epidermolysis Bullosa With Budesonide: a Retrospective Bicentric Study Nice - Paris St Louis / Necker (EBUDE Study)法国
- 尚未开始招募NCT07011589Targeting Collagen VII Antibodies in Bullous Diseases Using Efgartigimod IV (VYVGART)美国
- 招募中NCT06594393A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-study法国、希腊、意大利、西班牙、瑞典、美国
- 招募中NCT07193134GMEB-SASS: A Gene-Modified Skin Substitute for RDEB Treatment加拿大
- 招募中NCT07027345A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex美国
- 招募中NCT06834035Targeting Collagen VII Antibodies With IV IgG in Dystrophic Epidermolysis Bullosa美国
- 招募中NCT07700966A Long-Term Safety Follow-up Registry for Patients Who Received Treatment With Prademagene Zamikeracel for Recessive Dystrophic Epidermolysis Bullosa (RDEB) in the Post-Marketing Setting美国
- 招募中NCT07016750A Study Comparing KB803 and Matched Placebo in Patients With Dystrophic Epidermolysis Bullosa美国
- 招募中NCT07312513Multicenter, Randomized, Non-inferiority Study to Compare the Performance and Safety of Debrisoft® Duo With Debrisoft® Pad in the Debridement of Wounds波兰
- 招募中NCT06917690A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa日本
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）