EB simplex (EBS) is the most common form of EB both in Ireland and worldwide. People born with EBS are missing a protein within the upper layer of the skin – the epidermis, which would usually help bind the skin together. Approximately 70% of people with EB have EBS.
Every person has two copies of each gene, the gene mutation that causes EB can be in one or both genes in a pair. However, EBS is usually inherited dominantly, meaning that only one of the genes in a pair is affected.
Dominant types of EB are usually less severe than recessive, hence why EBS is usually less severe than other types, although there are some rare recessive forms of EBS.
This type of EB can comprise three main subtypes:
DEBRA International, the central body of a worldwide network of EB charities provides a list of all rare subtypes here.
Symptoms can vary widely among those affected and impacted by EB, but typically blistering is confined to the hands and feet and the blisters can heal without leaving scars, which is not the case for other types of EB, but hyperpigmentation (darkening of the skin) can occur where the blister was.
EB is a genetic condition. Genes determine characteristics such as eye colour and also our health. A genetic mutation means a change similar to a spelling mistake has happened and this change makes the gene faulty. We have two copies of every gene, each inherited from one of our parents.
EB simplex is almost exclusively a dominantly inherited condition. This means that one parent has EB simplex. The other parent is usually unaffected. Each time the affected parent has a child there is a one in two chance that the child will be affected. There is no carrier status in a dominantly inherited condition.
Sometimes an affected baby is born to unaffected parents. This is the result of what is called a ‘new mutation’. The problem lies in the genes that hold the instructions necessary for production of certain proteins in the skin. These instructions have a fault, rather like a typing error, with the result that the proteins are incorrectly formed, and unable to fulfil their role in attaching the layers of skin together.
There is currently no cure for EB, our work aims to change this. However, there are treatments available which help with the management of pain and itch.
We fund research projects aiming to find additional treatments as well as a cure, and our EB Support Team are committed to help people and carers deal with the challenges that EB brings.
All our support services are free, confidential, and tailored to your individual needs. Just complete our simple registration process.
