Schwieger-Briel Agnes, Chakkittakandiyil Ajith, Lara-Corrales Irene, Aujla Nimrita, Lane Alfred T, Lucky Anne W, Bruckner Anna L, Pope Elena
Department of Dermatology, University Freiburg Medical Centre, Freiburg, Germany.
Pediatr Dermatol. 2015 Jan-Feb;32(1):41-52. doi: 10.1111/pde.12317. Epub 2014 Mar 20.
Epidermolysis bullosa (EB) is a genetic condition characterized by skin fragility and blistering. There is no instrument available for clinical outcome research measurements. Our aim was to develop a comprehensive instrument that is easy to use in the context of interventional studies. Item collection was accomplished using a two-step Delphi Internet survey process for practitioners and qualitative content analysis of patient and family interviews. Items were reduced based on frequency and importance using a 4-point Likert scale and were subject to consensus (>80% agreement) using the nominal group technique. Pilot data testing was performed in 21 consecutive patients attending an EB clinic. The final score, Instrument for Scoring Clinical Outcome of Research for Epidermolysis Bullosa (iscorEB), is a combined score that contains clinician items grouped in five domains (skin, mucosa, organ involvement, laboratory abnormalities, and complications and procedures; maximum score 114) and patient-derived items (pain, itch, functional limitations, sleep, mood, and effect on daily and leisurely activities; maximum score 120). Pilot testing revealed that combined (see below) and subscores were able to differentiate between EB subtypes and degrees of clinical severity (EB simplex 21.7 ± 16.5, junctional EB 28.0 ± 20.7, dystrophic EB 57.3 ± 24.6, p = 0.007; mild 17.3 ± 9.6, moderate 41.0 ± 19.4, and severe 64.5 ± 22.6, p < 0.001). There was high correlation between clinician and patient subscores (correlation coefficient = 0.79, p < 0.001). iscorEB seems to be a sensitive tool in differentiating between EB types and across the clinical spectrum of severity. Further validation studies are needed.
大疱性表皮松解症（EB）是一种遗传性疾病，其特征为皮肤脆弱和水疱形成。目前尚无用于临床结局研究测量的工具。我们的目标是开发一种在干预性研究中易于使用的综合工具。通过针对从业者的两步德尔菲互联网调查过程以及对患者和家属访谈的定性内容分析来完成条目收集。使用4点李克特量表根据频率和重要性减少条目，并使用名义组技术达成共识（>80%的一致性）。对连续就诊于EB诊所的21例患者进行了初步数据测试。最终得分，即大疱性表皮松解症研究临床结局评分工具（iscorEB），是一个综合得分，包含分组在五个领域的临床医生条目（皮肤、黏膜、器官受累、实验室异常以及并发症和操作；最高分114）和患者衍生条目（疼痛、瘙痒、功能受限、睡眠、情绪以及对日常和休闲活动的影响；最高分120）。初步测试表明，综合得分（见下文）和子得分能够区分EB亚型和临床严重程度（单纯型EB 21.7±16.5，交界型EB 28.0±20.7，营养不良型EB 57.3±24.6，p = 0.007；轻度17.3±9.6，中度41.0±19.4，重度64.5±22.6，p < 0.001）。临床医生和患者子得分之间存在高度相关性（相关系数 = 0.79，p < 0.001）。iscorEB似乎是区分EB类型和整个临床严重程度范围的敏感工具。需要进一步的验证研究。
