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Investigational Treatments for Epidermolysis Bullosa

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Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin disorders characterized by skin fragility following minor trauma, usually present since birth. EB can be categorized into four classical subtypes, EB simplex, junctional EB, dystrophic EB and Kindler EB, distinguished on clinical features, plane of blister formation in the skin, and molecular pathology. Treatment for EB is mostly supportive, focusing on wound care and patient symptoms such as itch or pain. However, therapeutic advances have also been made in targeting the primary genetic abnormalities as well as the secondary inflammatory footprint of EB. Pre-clinical or clinical testing of gene therapies (gene replacement, gene editing, RNA-based therapy, natural gene therapy), cell-based therapies (fibroblasts, bone marrow transplantation, mesenchymal stromal cells, induced pluripotential stem cells), recombinant protein therapies, and small molecule and drug repurposing approaches, have generated new hope for better patient care. In this article, we review advances in translational research that are impacting on the quality of life for people living with different forms of EB and which offer hope for improved clinical management.

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Fig. 1
Fig. 2

modified from Bardhan et al. [2]. BP180 bullous pemphigoid antigen 180, BP230 bullous pemphigoid antigen 230, CD151 cluster of differentiation 151, DEB dystrophic EB, EB epidermolysis bullosa, EBS EB simplex, JEB junctional EB, KEB Kindler EB, KLHL24 kelch-like family member 24

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  1. Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, 138 Sheng-Li Road, Tainan, Taiwan

    Ping-Chen Hou, Han-Tang Wang, Wei-Ting Tu & Chao-Kai Hsu

  2. International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan

    Ping-Chen Hou, Han-Tang Wang, Wei-Ting Tu & Chao-Kai Hsu

  3. St John’s Institute of Dermatology, School of Basic and Medical Biosciences, King’s College London, London, UK

    Stasha Abhee & John A. McGrath

  4. Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Chao-Kai Hsu

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Hou, PC., Wang, HT., Abhee, S. et al. Investigational Treatments for Epidermolysis Bullosa. Am J Clin Dermatol 22, 801–817 (2021). https://doi.org/10.1007/s40257-021-00626-3

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