"These cute legs & toes belong to Maisy Keetch"Epidermolysis bullosa (EB) is a general term used to describe a group of rare inherited skin disorders that cause the skin to become very fragile.
In people with EB, any trauma or friction to the skin can cause painful blisters. In most cases, symptoms of EB are obvious from birth or soon after. If it is suspected that your child has the condition, they will be referred to a skin specialist (dermatologist) who will carry out tests to determine the type of EB and will help to come up with a treatment plan.
"The reason a butterfly is our symbol is that our skin is as fragile as a butterflies wings"
Types of Epidermolysis Bullosa
Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder that generally presents at birth with missing and/or blistered skin. Mucous membranes are often affected and can, in some types, also present airway and other internal involvement. EB affects tissue both internally and externally. This genetic skin disorder does not discriminate between ethnicity or gender. No form of EB is contagious.
There are 4 main types of EB and many subtypes within those main types, each of which are caused by a mutation in different proteins within the genetic structure. Below are the 4 main types and a few of the more common subtypes.
1) Junctional: Considered the most severe, and rare, of all types of EB. Below are the main sub types of JEB.
- Non Herlitz
- With Pyloric Atresia
2) Dystrophic and Dominant Dystrophic: Considered to be milder forms of EB while Recessive Dystrophic, a sub type of Dystrophic, has many sub types which can be moderate to extremely severe in presentation. Below are the sub types of Dystrophic along with the sub types of each form of Dystrophic.
- Recessive Dystrophic
- Hallopeau Siemens
- Non Hallopeau Siemens
3) Simplex: Considered to be the most common form of EB it has many sub types that range from mild to extremely severe. While EB will never 'go away' some sub types of Simplex 'can' become milder in presentation as the patient grows older. Below are the most common subtypes of EBS.
- Dowling Meara
- With Pyloric Atresia
- Weber Cockayne
- With Muscular Dystrophy
4) Kindler Syndrome: A rare form of EB which is caused by a mutation in the Kindling -1 gene.
There is one form of EB that is not inherited but is an autoimmune disorder. It is called Epidermolysis Bullosa Aquisita and generally appears later in life. EBA is not contagious.
In dominant EB, there is a 50% chance of passing the disorder to children, in recessive EB the chance is 25%.
**There is currently no cure for Epidermolysis Bullosa, only wound and pain management **