Epidermolysis Bullosa: What It Is and What We Know About It

Abigail Cayetano


With technological advances being made everyday, many cures for diseases have been discovered. Epidermolysis Bullosa is not one of those diseases. EB is a blistering skin disease that was discovered in the late 1800s and to this day has no known cure. This genetic disease shows up throughout the younger years of a person’s life and can grow more severe with age. According to the mayo clinic most who suffer from EB don’t make it to adulthood.


According to Epidermolysis Bullosa News, there are multiple types of EB, some more severe than others and each with a different set of symptoms and begin in different layers of the skin. Some of the most common symptoms include irritated or painful skin, fragile and easy blistering skin, or dental issues. The most common type of EB is Epidermolysis Bullosa Simplex (EBS), which begins in the outer layer of the skin. Junctional EB (JEB) blisters as well as skin loss begins during the infant stage of someone’s life. Child’s cries begin to sound rugged, or abnormal, due to blistering in vocal chords. JEB is the most rare and severe form of epidermolysis bullosa. Another main form of EB is Dystrophic Epidermolysis Bullosa (DEB). This form of EB can be mild and severe diagnosed by the different symptoms. Mild forms include blistering on the arms, knees and feet; while more severe in more severe forms patients have widespread blistering which could lead to vision loss.


There is no dodging EB, it’s not like any other disease or illness that can be prevented. EB is passed through genes of parents who are carriers of the mutation. EB is caused by a mutation in KRT5 or KRT14 genes particularly because these genes give instructions to make Keratin 5 and Keratin 14. When these proteins merge together they form Keratin Intermediate Filament molecules which harbor skin cells, they provide strength and flexibility of the skin offering protection from harmful interactions with skin. When these genes are mutated it becomes easier for skin to blister because it is no longer strong or resilient, causing pain to those who suffer from EB according to medline plus.


With today’s technology, if a parent is thought or known to be a carrier of the EB genetic mutation then the option of prenatal testing can be offered and done 11 weeks into pregnancy. Along with allowing parents to mentally and emotionally prepare themselves should results come out positive, parents will also be offered counseling and information so that parents can think about how they’d like to proceed with the pregnancy according to the National Health Service. 


Although there is no known cure there are things that can be done to help make life easier and prevent blistering. Surgeries to widen esophagus due to blistering and scarring of esophagus, placing feeding tubes to get nutrients directly to the stomach and skin grafts due to scarring. There is also rehabilitation therapy that can help patients have more pain free mobility. Of course researchers have not stopped trying to find a cure for EB. Researchers believe that possible treatments include gene therapy and bone marrow transplantation. 


EB drives patients and their families through a great deal of pain and sadness. From pain of blistering to loss of hearing/vision to multiple surgeries that only serve to make things “more comfortable” for patients. Those who are unlucky enough to have EB are lucky enough to experience their condition getting better while they reach adulthood. Others suffer rarely making it to adulthood – or even teenage years for that matter – living a life with depression and pain far from a happy, normal childhood. Because of this, EB is considered a lifelong disease – even for those who get better into adulthood.


It is estimated that 25-50 thousand people in the United States suffer with EB. Dealing with side effects that include infections, nutritional/dental issues and even skin cancer. Today there are charities like DEBRA which is a national medical research charity working to cure EB since it was founded in 1978 by Phyllis Hilton. DEBRA is dedicated to bringing advice and support to those who suffer from EB and their families.