What is Epidermolysis Bullosa?

Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder that affects an estimated 1 out of every 20,000 live births, approximately 200 children a year are born with EB. There are many variations of EB, but all share the prominent symptom of extremely fragile skin that blisters and tears from minor friction or trauma. Children with EB are called butterfly children, because their skin is as fragile as butterfly wings.

There are many people who are diagnosed with milder forms of EB, while they can be extremely difficult and painful to live with, are not disfiguring or life threatening. In these milder forms of EB, blistering of the skin may be limited to the hands and feet which may not result in any scarring or loss of function. In more severe forms there is generalized blistering of the skin as well as injury to many internal organs. These more severe forms of EB result in disfigurement, disability and early death, usually before the age of 30. Some forms of EB are lethal in the first few months of life.

Types of EB and how its caused

EB occurs in every racial and ethnic group throughout the world and affects both sexes equally. There are 4 main types: EB Simplex, Junctional EB, Dystrophic EB, and Kindler Syndrome, with additional sub-types identified with in each type of EB. EB is caused by mutations in the DNA code that make up genes. Genes are responsible for making and expressing proteins. EB can result from one genetic mutation in any one of the 18 genes that have been found to cause the disorder. These mutations, or errors in the genetic code, may not allow the affected gene to produce a specific protein, or it may result in the incorrect formation of that protein. Either way, the mutation does not enable the affected protein to work correctly thus resulting in extremely fragile skin.

A hope for a cure

There is currently no cure for EB. Living with the constant pain and complications along with daily dressings, wound care and pain management is something that EB patients and their family’s battle every day. However, there is great hope in promising research and clinical trials being conducted at esteemed institutions such as the University of Minnesota team led by Dr. Jakub Tolar.