Ella Murray has a rare genetic disease called Epidermolysis Bullosa, which causes her fragile skin to blister and scar. She says she tries to find simple ways to explain her condition to her friends.
Epidermolysis bullosa is a group of rare diseases that cause the skin to blister. The blisters may appear in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or intestines.
Most types of epidermolysis bullosa are inherited. The condition usually shows up in infancy or early childhood. Some people don’t develop signs and symptoms until adolescence or early adulthood.
Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment focuses on addressing the symptoms — such as infection and itching — and preventing pain and wounds. Severe forms may cause serious complications and can be fatal.
There are four main types of epidermolysis bullosa:
- Dystrophic epidermolysis bullosa
- Epidermolysis bullosa simplex
- Junctional epidermolysis bullosa
- Kindler Syndrome
Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.