Mapping the burden of severe forms of epidermolysis bullosa – Implications for patient management
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JAAD Int. 2023 Mar 29;11:224-232. doi: 10.1016/j.jdin.2023.02.016. PMID: 37179539; PMCID: PMC10173168.

Mapping the burden of severe forms of epidermolysis bullosa – Implications for patient management

Authors: Jemima E Mellerio 1Dimitra Kiritsi 2M Peter Marinkovich 3 4Natividad Romero Haro 5Kellie Badger 6Meena Arora 7Marc A Dziasko 8Mansi Vithlani 8Anna E Martinez 9

Affiliation:

  • 1St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK.
  • 2Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • 3Department of Dermatology, Stanford University School of Medicine, Stanford, California.
  • 4Veteran’s Affairs Medical Center, Palo Alto, California.
  • 5Department of Healthcare, DEBRA, Marbella, Spain.
  • 6Phoenix Children’s Hospital, Phoenix, Arizona.
  • 7Amryt Pharma plc, London, UK.
  • 8Dolon Ltd, London, UK.
  • 9Department of Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Abstract:

Background: The pathophysiological processes underlying the phenotypic spectrum of severe forms of epidermolysis bullosa (EB) are complex and poorly understood.

Objective: To use burden mapping to explore relationships between primary pathomechanisms and secondary clinical manifestations in severe forms of EB (junctional and dystrophic EB [JEB/DEB]) and highlight strengths and weaknesses in evidence regarding the contribution of different pathways.

Methods: Literature searches were performed to identify evidence regarding the pathophysiological and clinical aspects of JEB/DEB. Identified publications and clinical experience were used to construct burden maps to visually communicate plausible connections and their relative importance by subtype.

Results: Our findings suggest that most of the clinical consequences of JEB/DEB may result from an abnormal state and/or faulty skin remodeling driven by a vicious cycle of delayed wound healing, predominantly mediated through inflammation. The quantity and quality of evidence varies by individual manifestations and disease subtype.

Limitations: The burden maps are provisional hypotheses requiring further validation and are limited by the published evidence base and subjectivity in clinical opinion.

Conclusions: Delayed wound healing appears to be a key driver of the burden of JEB/DEB. Further studies are warranted to understand the role of inflammatory mediators and accelerated wound healing in patient management.

Keywords: blistering; clinical manifestations; disease burden mapping; epidermolysis bullosa; pathophysiology; wound healing.

Download: https://pubmed.ncbi.nlm.nih.gov/37179539/