Editorial: Skin Blistering Diseases

Frontiers in Medicine

article

Cristina Has¹  Kyle T. Amber²  Dedee F. Murrell³  Philippe Musette⁴  Ralf J. Ludwig⁵ 

[1]Department of Dermatology, Faculty of Medicine, University of Freiburg

[2]Department of Dermatology, University of Illinois at Chicago, United States

[3]Department of Dermatology, St George Hospital, University of New South Wales

[4]Department of Dermatology, Rouen University Hospital

[5]Lübeck Institute of Experimental Dermatology and Center for Research on Inflammation of the Skin, University of Lübeck

关键词: skin;    autoimmunity;    hereditary diseases;    pemphigoid;    pemphigus;    epidermolysis bollosa;   

DOI  :  10.3389/fmed.2019.00060

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Skin blistering is commonly caused by mechanical, physical, or infectious insults. Less often, mutations of structural components of the skin (1) or autoimmunity (2) directed against those structural components (3) lead to skin blistering. Albeit among the less frequent causes of skin blistering, understanding of the pathomechanisms of hereditary and autoimmune skin blistering has provided detailed insights into cutaneous biology and (auto)immunity. More specifically, in recent years, genetics, definition of autoantigens, model systems, and clinical research have led to a tremendous improvement for both diagnosis and treatment for patients suffering from skin blistering diseases. This is well-reflected by the article within the Research Topic Skin Blistering Diseases: Regarding genetics Vodo et al. herein review the genetics of pemphigus vulgaris (PV). As for many autoimmune diseases, the strongest association is observed for the HLA-locus. Thus far, 3 genome-wide association studies (GWAS) for PV, have found ST18 and TAP2 to be associated with PV (4–6). PV is a potentially fatal autoimmune blistering disease, characterized, and caused by autoantibodies targeting epithelial desmosomal antigens. The autoantibodies in PV are mainly directed against desmoglein (Dsg) 3 and −1. However, as highlighted by Sinha and Sajda in the Research Topic Skin Blistering Diseases, the anti-Dsg1/3 immune response does not explain the disease heterogeneity in PV. Indeed, the advance of technology, such as protein microarrays, has identified a number of additional autoantibodies in PV patients (7). Based on these observations, they here propose a super-compensation hypothesis, whereby the mixture, specificity and pathogenicity of PV-specific autoantibodies determine the clinical disease presentation. Whereas in pemphigus, and other autoimmune skin blistering diseases, genetics is mostly used to obtain insights into disease pathogenesis, genetic research in hereditary blistering diseases is far advanced. As reported by Condrat et al. in the Research Topic Skin Blistering Diseases, allelic heterogeneity and mutation status are at the verge of being employed for molecular-targeted, personalized treatment for patients with junctional epidermolysis bullosa (JEB), caused by reduced dermal-epidermal adhesion due to deficiencies of specific hemi-desmosomal adhesion proteins, such as type XVII collagen or laminin-332 (8).

【 授权许可】

CC BY