Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure

Aaron Tabor, Joseph V. Pergolizzi, Guy Marti, John Harmon, Bernard A Cohen, Jo Ann Lequang

Research output: Contribution to journalReview article

Abstract

Objective:Epidermolysis bullosa (EB) is an orphan disease that affects about half a million people worldwide, but may not be familiar to all clinicians. The authors' goal was to present a short description of this condition and current research in the form of a narrative review. Methods:The authors reviewed the literature on epidermolysis bullosa in order to describe the condition and current genetic research. Results: There are at least 31 subtypes of EB, including junctional EB, dystrophic EB, and Kindler syndrome. Genetic research is crucial in finding strategies to manage and possibly cure EB, which is often undiagnosed or misdiagnosed. EB may present in newborns and may persist over the course of a lifetime. Serious complications can occur with EB, including chronic blisters, wounds, ulcers, pruritus, clubbing of hands and feet, and amputations. Pain is frequently reported. About 80 percent of patients with recessive dystrophic EB will succumb to squamous cell carcinoma by age 55. Promising directions for future research include genome editing, gene therapy, and cellbased therapies. Conclusion: Our growing understanding of genetics and cell therapies may lead to promising therapeutic advances to treat this challenging condition.

Original languageEnglish (US)
Pages (from-to)36-48
Number of pages13
JournalJournal of Clinical and Aesthetic Dermatology
Volume10
Issue number5
Publication statusPublished - May 1 2017

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ASJC Scopus subject areas

  • Dermatology

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