Has C, Bauer J W, Bodemer C, Bolling M C, Bruckner-Tuderman L, Diem A, Fine J-D, Heagerty A, Hovnanian A, Marinkovich M P, Martinez A E, McGrath J A, Moss C, Murrell D F, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley D T, Zambruno G, Mellerio J E
Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Department of Dermatology and Allergology and EB Haus Austria University Hospital of the Paracelsus Medical University Salzburg, Austria.
Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11.
Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).
We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data.
This was a consensus expert review.
In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin cleavage is very superficial, are classified as separate categories. These include peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility. Because of the common manifestation of skin fragility, these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care.
The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. What is already known about this topic? Epidermolysis bullosa (EB) is a group of genetic disorders with skin blistering. The last updated recommendations on diagnosis and classification were published in 2014. What does this study add? We introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors and natural history of EB are reviewed. Other disorders with skin fragility, e.g. peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility are classified as separate categories; these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. Linked Comment: Pope. Br J Dermatol 2020; 183:603.
自2014年上次国际大疱性表皮松解症（EB）共识会议报告发表以来，已鉴定出多个新基因和临床亚型。
我们试图根据新的临床和分子数据，对伴有皮肤脆性的疾病进行重新分类，重点是EB。
这是一项专家共识评审。
在这份最新的共识报告中，我们引入了伴有皮肤脆性的遗传性疾病这一概念，其中经典的EB是其原型。其他伴有皮肤脆性的疾病，水疱在临床表现中占较小部分或因皮肤分裂非常表浅而未出现水疱，被归类为不同类别。这些疾病包括皮肤剥脱性疾病、糜烂性疾病、角化过度性疾病以及伴有皮肤脆性的结缔组织疾病。由于皮肤脆性的常见表现，在医疗和社会经济护理提供方面，这些“EB相关”疾病应在EB的范畴内予以考虑。
提议的分类方案对临床医生和研究人员均应有价值，强调了EB的临床和遗传特征。关于该主题已知的情况是什么？大疱性表皮松解症（EB）是一组伴有皮肤水疱的遗传性疾病。关于诊断和分类的最新建议于2014年发表。本研究增加了什么内容？我们引入了伴有皮肤脆性的遗传性疾病这一概念，其中经典的EB是其原型。对EB的临床和遗传方面、基因型 - 表型相关性、疾病修饰因素和自然史进行了综述。其他伴有皮肤脆性的疾病，如皮肤剥脱性疾病、糜烂性疾病、角化过度性疾病以及伴有皮肤脆性的结缔组织疾病被归类为不同类别；在医疗和社会经济护理提供方面，这些“EB相关”疾病应在EB的范畴内予以考虑。相关评论：Pope。《英国皮肤病学杂志》2020年；183:603。
