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
StatePublished - May 1 2017

Fingerprint

Epidermolysis Bullosa
Health Personnel
Epidermolysis Bullosa Dystrophica
Genetic Research
Genetic Therapy
Junctional Epidermolysis Bullosa
Blister
Pruritus
Cell- and Tissue-Based Therapy
Rare Diseases
Diagnostic Errors
Amputation
Ulcer
Foot
Squamous Cell Carcinoma
Hand
Newborn Infant
Pain
Wounds and Injuries
Therapeutics

ASJC Scopus subject areas

  • Dermatology

Cite this

Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure. / Tabor, Aaron; Pergolizzi, Joseph V.; Marti, Guy; Harmon, John; Cohen, Bernard A; Lequang, Jo Ann.

In: Journal of Clinical and Aesthetic Dermatology, Vol. 10, No. 5, 01.05.2017, p. 36-48.

Research output: Contribution to journalReview article

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AU - Lequang, Jo Ann

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