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Translational perspectives to treat Epidermolysis bullosa - where do we stand?

ABSTRACT: Epidermolysis bullosa (EB) is the prototypical example of genetic skin fragility disorders. Genotypic heterogeneity, modifier genes, epigenetic, biochemical and environmental factors alter and determine pathogenic traits and, ultimately, the wide and striking phenotypic variability in EB. Besides the primary structural-functional defect, chronic tissue damage with induction and dysregulation of inflammatory pathways is a common pathogenic mechanism in EB. In localized variants, the inflammatory aberrations may mainly affect the micromilieu of lesional skin, while a systemic inflammatory response was shown to contribute to the systemic morbidity in severe EB subtypes with extensive cutaneous involvement. Our continued understanding of the pathophysiology of EB, as well as advances in molecular technologies, have paved the way for translational therapeutic approaches. The spectrum comprises of corrective and symptom-relieving therapies that include innovative therapeutic options garnered from the bench, repurposed drugs approved for other diseases, as well as strategies for gene-, protein-, and cell-based therapies. Immunological traits further define new targets of therapy, aimed at improving skin barrier restoration, microbial surveillance and infection control, wound healing and anti-neoplastic effects. Clinical availability and feasibility of these approaches for all EB patients and subtypes are currently limited, reflecting issues of efficacy, specificity, tolerability and safety. A multistep targeting approach and highly individualized, risk-stratified combinatory treatment plans will thus be essential for sustained efficacy and improved overall quality of life in EB.

SUBMITTER: Prodinger C

PROVIDER: S-EPMC7756480 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Translational perspectives to treat Epidermolysis bullosa-Where do we stand?

Prodinger Christine C Bauer Johann W JW Laimer Martin M

Experimental dermatology 20201101 11

Epidermolysis bullosa (EB) is the prototypical example of genetic skin fragility disorders. Genotypic heterogeneity, modifier genes, epigenetic, biochemical and environmental factors alter and determine pathogenic traits and, ultimately, the wide and striking phenotypic variability in EB. Besides the primary structural-functional defect, chronic tissue damage with induction and dysregulation of inflammatory pathways is a common pathogenic mechanism in EB. In localized variants, the inflammatory ...[more]

PMID: 33043517

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Project description:Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is based on anecdotal care, clinical expertise and creative problem solving with caregivers and individuals with EB. Evidence based intervention is needed to establish a foundation of knowledge and to guide international practitioners to create and improve standards of care to effectively work with individuals living with EB. This clinical practice guideline (CPG) was created for the purpose of providing evidence based interventions and best clinical practices for the physiotherapy management of individuals with EB. A survey was conducted within the EB community and six outcomes were identified as a priority to address in physiotherapy management, including (1) attaining developmental motor milestones, (2) identifying safe and functional mobility in the natural environment, (3) encouraging ambulation endurance, (4) supporting safe ability to bear weight, (5) improving access to physiotherapy services, and (6) optimizing interaction with the community. A systematic literature review was conducted and articles were critically analyzed by an international panel consisting of thirteen members: healthcare professionals (including physiotherapist, doctors, and occupational therapist), caregivers, and individuals with EB. Recommendations were formulated from evidence and panel consensus. An external panel of twelve were invited to improve the quality and gather feedback on draft manuscript and recommendations. This CPG describes the development of recommendations for physiotherapy management including several best practice interventions. This guideline lays the foundational work for physiotherapist throughout the world to provide high quality services while improving and maintaining functional mobility and independence within the EB community. The CPG outlines limitations in the evidence available and possible future research needed to improve physiotherapy practice.

Dataset Information

Translational perspectives to treat Epidermolysis bullosa - where do we stand?

Publications

Translational perspectives to treat Epidermolysis bullosa-Where do we stand?

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