Information & Support
WHAT IS EB?
Epidermolysis Bullosa is medical Latin for skin that blisters and tears easily. Epidermal describes ‘outer skin layers’; lysis means ‘tearing and shearing’; and the Bulla are the ‘blisters’ that develop.
Relax, even doctors refer to Epidermolysis Bullosa as ‘EB’!
If you have EB then your skin is more delicate, it blisters or tears more easily. In severe EB the slightest touch can cause skin to blister or come off and leave wounds like burns. It’s as if there’s no glue between the skin and the tissue below. It can also occur in the mucous membranes, particularly inside the mouth and throat causing major issues with nutrition.
More than 180 New Zealanders have a form of this genetic disorder. While most have mild to moderate symptoms, many require specialist and ongoing clinical care to varying degrees.
Severe EB has an incidence of 1 in 300,000.
TYPES OF EB
There are three main types of EB – Dystrophic, Simplex and Junctional. Each type can be mild or severe, and each is made up of many different sub-types. In fact just about everyone living with EB is affected differently.
The type of EB relates to where weakness occurs in the skin cell layers.
Dystrophic EB skin comes apart at the bottom layer.
Coming ‘unglued’ down near the flesh below, amongst the live basal skin cells. With live regenerative cells lost, wounds have to heal growing in from the sides. Dystrophic EB also affects the body’s internal skin. Dystrophic means scarring.
Simplex EB skin comes apart in the upper layers.
Wound healing is ‘simpler’ with a full compliment of live cells still in the right place to fix the wound with less scarring. Simplex EB can be worse when the weather is hot and humid.
Junctional EB skin comes apart at the ‘junction’ between the upper layer and the live lower cells. Surprisingly these wounds can take the longest to heal.
An accurate skin biopsy and correct sample analysis is needed to confirm the exact type of EB.
EB is inherited either dominantly or recessively.
Recessive: neither parent has EB, but both carry hidden genes that together can make EB. Their children have a 1-in-4 chance of EB.
Dominant: one (or both) parents have EB, or a child has a new genetic mutation. The children of a parent with Dominant EB have a 1-in-2 chance of having the same type of EB. Dominantly inherited EB is often more mild. It can run in families for generations and sometimes goes undiagnosed until recognised when a new baby is born with blistering skin.
Dystrophic EB is usually known as Recessive Dystrophic EB (RDEB) or Dominant Dystrophic EB (DDEB).
EB knows no boundaries, it affects all races and as a result children all over the world are members of the DEBRA family.
One day we’ll find a cure. While researchers around the world try to solve that part of the EB puzzle, here in New Zealand we focus on improving everyday life for those with EB and their families.