Living with EB
Apr 25 2005 By Jennifer Bradbur, The Evening Chronicle
What does the name mean?
The skin is made up of a number of different layers. The outer is called the epidermis; the inner layers are the dermis. Bullosa is simply the name for a blister and lysis means breakdown. Hence, Epidermolysis Bullosa means the breakdown and blistering of the epidermis.
What causes the disease?
The understanding of the causes of EB has grown greatly over recent years. All forms of EB are genetic in origin and the genes responsible for several different sub types of the condition are now known. Others still await identification. The genetic defects result in the skin layers not adhering properly to each other, causing areas of structural weakness. This fragile skin is particularly vulnerable to damage from mild friction, causing the blisters which are the characteristic feature of the condition.
What are the symptoms of EB?
In general terms, EB causes blisters which may be restricted to specific areas, for example hands or feet, or may affect large areas of the body. In the milder forms the blisters heal normally without leaving permanent damage to the skin. In other forms the blisters heal with scarring which can result in permanent change to the skin. For example fingers may fuse and hands contract, reducing movement. Some forms of Junctional EB are life-threatening in infancy.
Does the condition only affect the skin?
Although the effects of EB on the skin are the most visible symptoms, other parts of the body can be affected. The inside of the mouth may blister, causing discomfort and, in some cases, restricted opening. The gullet can also be affected, causing difficulties in swallowing and eating. Other mucosal linings may be affected, including the eyes and anus. Consequently, a number of different specialists are involved in the care of people with EB and DebRA actively supports specialist treatment centres to provide that care.
Does EB affect mental health or intelligence?
People with EB are just like any other cross section of the population. There is no evidence that EB affects mental health and the same range of intelligence is found among people with EB as in any other group. The overwhelming majority of children are best placed in mainstream schooling where they can receive a broadly based education alongside their friends and neighbours.
Is EB infectious or contagious?
EB is neither infectious or contagious and other people cannot `catch' EB from someone with the condition. There is no risk to other people from normal activities such as swimming.
Is EB hereditary?
EB is a genetic condition which is passed on from parents to children. Different forms of EB are passed on in different ways. In some types one parent has EB and it is passed on directly to some of the children.
In these cases there is a one in two chance in each pregnancy of the child having the form of EB which the parent has. Other types are transmitted in a more complicated manner, known as recessive inheritance. In this case both parents will be carrying the gene for the disorder but will not themselves ever be affected, ie they are carriers.
Where this is the case, there is a one in four chance in each pregnancy of the child having EB and a one in two chance that the child will be an unaffected carrier. These `carrier children' will only face the risk of having an affected child themselves in adult life in the unlikely event that their partner is also a carrier.
