Abstract
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels being developed in several EB centers and allowing quicker diagnosis and prognostication. With the advances of gene editing, more focus has been placed on gene editing-based therapies for targeted treatment. However, their implementation in daily care will still take time. Thus, a significant focus is currently being placed on achieving a better understanding of the pathogenetic mechanisms of each subtype and using this knowledge for the design of symptom-relief therapies, i.e. treatment options aimed at ameliorating and not curing the disease.
Highlights
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by traumainduced skin dissociation and the development of painful wounds[1]
The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels for EB being established in genetic departments, allowing a rapid and efficient diagnosis for patients with suspected EB5,6
In 2006, an Italian research group was successful in achieving long-term engraftment of epidermal sheets generated from ex vivo, gene-corrected, autologous epidermal stem cells from a patient with junctional EB (JEB) caused by LAMB3 mutations[10]
Summary
F1000 Faculty Reviews are written by members of the prestigious F1000 Faculty. They are commissioned and are peer reviewed before publication to ensure that the final, published version is comprehensive and accessible. Safety concerns regarding the use of retroviral vectors put subsequent studies on hold These gene therapy efforts have recently been revived, and two publications from the research group, using the same approach of correction, have repeated the initial success of achieving long-term closure of chronic wounds[11] as well as significantly advanced the treatment by successfully replacing 80% of the epidermis of a boy with laminin-332-deficient JEB12. Recent advances have identified a subpopulation of dermal-derived MSCs with more potent, tissue-regenerative abilities[36,37] Clinical trials using these socalled ABCB5-positive MSCs in improving wound healing in DEB are expected to be initiated later this year. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
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