Integrated Management Strategies for Epidermolysis Bullosa: Current Insights

Abstract

Haseena Sait, Somya Srivastava, Deepti Saxena Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, IndiaCorrespondence: Deepti Saxena, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, Email [email protected]: Epidermolysis bullosa (EB) is a group of rare genodermatoses that is characterized by skin fragility resulting from minor trauma. There are four major subtypes, namely, EB simplex, junctional EB, dystrophic EB and Kindler EB, depending upon the localization of defective protein and resulting plane of blister formation. The phenotype is heterogeneous in terms of severity and majority of them present at birth or neonatal period. Currently, the treatment is mainly supportive and requires multidisciplinary care. The complex molecular pathology creates difficulty in discovering a unified curative treatment approach. But with arduous efforts, significant progress has been made in the development of treatment strategies in the last decade. The management strategies range from targeting the underlying causative factor to symptom-relieving approaches, and include gene, mRNA, protein, cell and combination therapies. In this review, we enumerate the promising approaches that are currently under various stages of investigation to provide effective treatment for patients with EB.Keywords: epidermolysis bullosa, blistering skin disorder, gene replacement, gene editing, antisense oligonucleotides, siRNA therapeutics, spliceosome-mediated RNA trans-splicing, revertant mosaicism, readthrough therapies, squamous cell carcinoma

Keywords

• epidermolysis bullosa
• blistering skin disorder
• gene replacement
• gene editing
• antisense oligonucleotides
• sirna therapeutics
• spliceosome-mediated rna trans-splicing
• revertant mosaicism
• readthrough therapies
• squamous cell carcinoma