Epidermolysis bullosa simplex (EBS): localised

EB is a rare inherited skin condition that causes the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters.

There are four main types of EB:

• EB simplex (EBS)
• dystrophic
• junctional
• Kindler syndrome

Each is a quite distinct disorder. If you have EBS then you cannot develop one of the other forms of EB.

EB is caused by a faulty gene (gene mutation) that results in certain proteins in the skin forming incorrectly.

We have two copies of every gene, one from our father and one from our mother. EBS is almost exclusively a dominantly inherited condition seen equally in males and females.

This means anyone who has EBS can pass the condition onto their children. Each time a pregnancy occurs there is a 1 in 2 chance that the child will inherit EBS if one parent is affected.

However, EBS can sometimes be seen as a ‘new mutation’ when there is no family history. The genes that hold the instructions for producing certain proteins in the top layer of skin can sometimes have a minor fault. This minor fault, rather like a typing error, can mean the proteins are incorrectly formed, and unable to fulfil their role as scaffolding for the topmost layer of skin. The result is that the top layer of skin does not ‘stick’ securely to the layer beneath it, and where the two layers separate blisters can develop.

In the majority of cases, the type of EB can be determined by analysis of a skin biopsy (tiny sample of skin). Blood samples are also taken from both child and parents to look for the specific gene changes.

There is currently no cure for EB, so treatment aims to relieve symptoms and prevent complications developing, such as infection.

This will vary and depend on whether you and your partner are carriers of the faulty gene.

In some cases, it's possible to test an unborn baby for EB between the 11th- 13th week of pregnancy. In IVF it is also sometimes possible to test embryos before they are implanted.

Localised EBS is the most common type of EBS.

People with localised EBS usually get blistering on their hands and feet. If your child has localised EBS, you might not see the blisters until they begin to walk.

Pop blisters with a sterile needle or a sharp pair or of scissors. This will release the fluid and stop them from enlarging and becoming painful or infected. After you’ve popped the blister leave the top of the blister on.

If blisters are left and enlarge they can burst and may cause further damage to the area. Further damage to the hands and feet may delay developmental milestones like crawling/walking.

Many people find dressings unnecessary.

If your child isn’t using dressings, you can dust the area with cornflour to help dry up the blisters and reduce friction.

Some people find non-stick dressings helpful.

Blisters can be very painful and limit movement, especially when the feet are very sore.

Simple pain relief such as paracetamol and ibuprofen can often help ease this pain.

Sometimes, longer-term pain management is needed. This is sometimes only in the summer months when blistering is at its most troublesome.

Your child’s EB medical team can offer advice on pain management.

Constipation is very common problem in all types of EB.

Blisters around the bottom can make pooing painful. These blisters can then make your child frightened to poo in case it hurts, and constipation can develop.

A good diet, high in fibre with plenty of fluids will help.

If you child is finding it hard to poo, please speak with your child’s EB team who will be able to advise on medicine to help them poo, or make pooing more comfortable.

Whilst it is not possible to totally stop all blisters forming, there are steps you can take to minimize the risk.

Keeping cool:

Heat, especially when associated with high humidity, increases the risk of blisters forming. The following can help your child to keep cool:

• Wear natural materials.
• Soak the affected areas in cool water, especially after a hot day.
• Try to keep rooms cool by using a fan or air conditioning in warmer months.
• Pick shady spots to sit and play in outside.

Wearing the right shoes:

Choice of footwear is very important:

• Pick shoes with natural materials, that are soft and breathable.
• Get your child’s feet measured, to make sure their shoes fit well.
• A wide fit shoe can help prevent the shoe from rubbing the top and sides of the feet.
• Check the insides of new shoes for excessive seams, as these could cause blisters.
• Try to have several pairs of shoes of in different styles. Switch between styles to change where the shoes cause friction/rub.
• School shoes are often unsuitable for children with EBS. You may need to get permission for your child to wear more suitable footwear.
• Some people find that special socks help to keep their feet cool. You can speak with your child’s GP about getting a prescription for these.
• Some days walking may be more difficult than others. Many people ‘save’ their feet to do activities that they enjoy. However, try to encourage your child to pace themselves during activities to avoid excess blistering as this will make the following days more difficult.

If you are at all concerned about any skin changes, please contact your EB team as soon as possible.

· Message us on MYGOSH

· Call us on 0207 405 9200 Ext 5053

· Email us on gos-tr.ebnurses@nhs.net

DEBRA is the national charity that supports individuals and families affected by EB.

They provide information, practical help and professional advice, and fund research into the condition. To find out more please visit the Debra website.