Baardman R, Yenamandra V K, Duipmans J C, Pasmooij A M G, Jonkman M F, van den Akker P C, Bolling M C
Department of Dermatology, Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Department of Genetics, Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
J Eur Acad Dermatol Venereol. 2021 Apr;35(4):995-1006. doi: 10.1111/jdv.17012. Epub 2020 Nov 16.
Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts.
To evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well-characterized cohort in the Dutch EB Registry.
In this observational study all EB-patients that were based in the Netherlands and captured in the Dutch EB Registry between 1988 and 2018 were included. The epidemiological outcomes were based on complete diagnostic data (clinical features, immunofluorescence, electron microscopy and mutation analysis), with longitudinal follow-up.
A total of 464 EB-patients (287 families) were included. The incidence and point-prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB) and Kindler EB were diagnosed in 45.7%, 18.8%, 34.7% and 0.9% of the EB-patients, respectively, with an incidence and point-prevalence of 17.5 and 11.9 (EBS), 9.3 and 2.1 (JEB), 14.1 and 8.3 (DEB), 0.5 and 0.2 (Kindler EB). In 90.5% of the EB-patients the diagnosis was genetically confirmed. During the investigated time period 73 EB-patients died, 72.6% of whom as a direct consequence of their EB.
The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized set-up, indicating that EB might be more common than previously assumed. These epidemiological data help to understand the extensive need for (specialized) medical care of EB-patients and is invaluable for the design and execution of therapeutic trials. This study emphasizes the importance of thorough reporting systems and registries worldwide.
大疱性表皮松解症（EB）是一组罕见且无法治愈的遗传性疾病，其特征是皮肤和黏膜脆弱，导致水疱和糜烂。其他人群已开展了多项流行病学研究，报告的数据各不相同，有时结论也不明确，这凸显了在特征明确的队列中进行标准化流行病学分析的必要性。
评估从荷兰EB登记处分子特征明确的队列中提取的荷兰EB流行病学数据。
在这项观察性研究中，纳入了1988年至2018年期间居住在荷兰并被荷兰EB登记处收录的所有EB患者。流行病学结果基于完整的诊断数据（临床特征、免疫荧光、电子显微镜检查和突变分析），并进行了纵向随访。
共纳入464例EB患者（287个家庭）。荷兰EB的发病率和时点患病率分别为每百万活产41.3例和每百万人口22.4例。单纯性EB（EBS）、交界性EB（JEB）、营养不良性EB（DEB）和Kindler EB在EB患者中的诊断比例分别为45.7%、18.8%、34.7%和0.9%，其发病率和时点患病率分别为17.5和11.9（EBS）、9.3和2.1（JEB）、14.1和8.3（DEB）、0.5和0.2（Kindler EB）。90.5%的EB患者诊断得到基因确认。在研究期间，73例EB患者死亡，其中72.6%直接死于EB。
荷兰EB的流行病学结果较高，这归因于在组织良好的环境中的高检测率，表明EB可能比以前认为的更常见。这些流行病学数据有助于理解EB患者对（专科）医疗护理的广泛需求，对于治疗试验的设计和实施具有重要价值。本研究强调了全球范围内完善报告系统和登记处的重要性。
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