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 language | English (US) |
|---|---|
| Pages (from-to) | 36-48 |
| Number of pages | 13 |
| Journal | Journal of Clinical and Aesthetic Dermatology |
| Volume | 10 |
| Issue number | 5 |
| State | Published - May 1 2017 |
Fingerprint
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 journal › Review article
}
TY - JOUR
T1 - Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure
AU - Tabor, Aaron
AU - Pergolizzi, Joseph V.
AU - Marti, Guy
AU - Harmon, John
AU - Cohen, Bernard A
AU - Lequang, Jo Ann
PY - 2017/5/1
Y1 - 2017/5/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85026355507&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85026355507&partnerID=8YFLogxK
M3 - Review article
AN - SCOPUS:85026355507
VL - 10
SP - 36
EP - 48
JO - Journal of Clinical and Aesthetic Dermatology
JF - Journal of Clinical and Aesthetic Dermatology
SN - 1941-2789
IS - 5
ER -