E-mail ID : info@iamg.in
 
 
 
 

Online Submission
Click Here For Online Submission
Instructions for authors

Genetic Clinics
Editorial board

Get Our Newsletter
Subscribe

Send Your Feedback
Feedback Form

About Us
IAMG

Abstract

April to June 2019 | Vol. 12 | Issue 2 | Page 11-18
Epidermolysis Bullosa: An Update
Neetu Bhari1 , Neerja Gupta2
1Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India 2Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
Address for Correspondence Email: neerja17aiims@gmail.com
 
Abstract
Epidermolysis bullosa (EB) is caused by mutation in various components of the basement membrane zone and is characterized by increased fragility of skin and mucous membrane. There are four major types based on the level of split at the basement membrane zone – involvement of basal layer of epidermis in epidermolysis bullosa simplex (EBS), lamina lucida in junctional EB (JEB) and sublamina densa in dystrophic EB (DEB) while Kindler syndrome (KS) can exhibit multiple levels of split. More than 19 genes have been described resulting in the various subtypes of these 4 major types giving rise to diversity of phenotypic expressions. Diagnosis is based on the “onion skin approach’’ which includes clinical presentation, family history, antigen mapping and genetic mutation analysis. The main stay of management is supportive and wound care. The newer experimental therapies include gene therapy, fibroblast and protein therapy and mesenchymal and bone marrow transplantation.
 
HTML Full Text  Download PDF