Epidermolysis bullosa simplex localised and generalised types

This information from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatments for Epidermolysis Bullosa (EB). EB is a group of inherited disorders in which the skin blisters extremely easily. 

There are four main types of EB. Each is a quite distinct disorder. If someone has EB simplex then they cannot develop one of the other forms of EB (dystrophic, junctional or Kindler syndrome). The localised form of EB simplex is also known as Weber Cockayne epidermolysis bullosa simplex. The generalised form is also known as Köbner epidermolysis bullosa simplex.

What caused it?

The problem lies in the genes that hold the instructions necessary for production of certain proteins in the top layer of skin. These instructions have a minor fault, rather like a typing error, with the result that 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 a blister develops.

EB simplex is almost exclusively a dominantly inherited condition seen equally in males and females. This means anyone who has EB simplex can pass the condition onto his or her children. Each time a pregnancy occurs there is a one in two chance that the child will inherit EB simplex if one parent is affected.

However, EB simplex can sometimes be seen as a ‘new mutation’ when there is no family history.

Is there a cure?

Not yet, but research continues. There is still a long way to go, but an effective treatment to prevent the blistering may ultimately be possible.

What are the different types of EB simplex?

Localised EB simplex (Weber Cockayne)

This is the most common type of EBS. Blistering is localised to the hands and feet. Blisters may not become evident until the child begins to walk.

Generalised EB simplex (Köbner)

Blistering may be obvious from birth, or develop during the first few weeks of life. Occasionally babies are born with raw open wounds which need to be covered with special dressings. Sites of blistering correspond to areas where friction is caused by clothing and frequently appear around the edges of the nappy. Blisters are often seen inside the mouth but do not generally cause a problem during feeding.

EB simplex Dowling Meara is another type of EB simplex.

How is EB simplex managed?

Management involves identifying new blisters, lancing them with a sterile needle or snipping with a sharp pair of scissors, to release the fluid and prevent spread. If compressing the blister to expel the fluid is very painful, then the fluid can be drawn off using a fine needle attached to a syringe.

Many people find dressings unnecessary, preferring to dust the area with cornflour to help dry up the blisters and reduce friction. However, some people find non-stick dressings helpful.

Pain relief

Blisters can be very painful and limit mobility. Some people find it helpful to take simple painkillers such as paracetamol and ibuprofen when their feet are especially sore. Longer-term pain management may be necessary – sometimes only in the summer months when blistering is at its most troublesome. The EB medical team can offer advice on this to your family doctor (GP).

Constipation

This is a very common problem in all types of EB. Blisters around the anal region (bottom) can make it painful to open the bowels. Constipation then develops because the child is frightened to poo in case it hurts. A good diet, high in fibre with plenty of fluids will help. Sometimes medicines are prescribed to help soften the faeces (poo) or stimulate the bowel.

Prevention of blisters

There are no measures that will totally stop all blisters forming, however the following actions can be carried out to minimise the risk:

  • Heat, especially when associated with high humidity, can exacerbate blister formation, so measures taken to keep affected areas cool will often reduce the rate of blistering.

    • Wear natural materials.

    • Soak the affected area such as the hands and feet in cool water, especially after a hot day.

    • Temperature regulation in house/classrooms.

  • Choice of footwear is very important.

    • As stated above, natural materials for shoes are good, such as leather.
    • Check the insides of new shoes for excessive seams, as these could cause blisters.

    • Children should get their feet measured to ensure good shoe fit.

    • It helps to have several pairs of shoes of different styles and to change one pair for another regularly to alter sites of friction. It is helpful to have soft, well ventilated shoes. Shoes in line with the uniform policy of schools are often unsuitable and permission needs to be granted to wear more suitable footwear such as black trainers. A wide fit prevents contact of the shoe with the top and sides of the feet.

    • Some people find special socks beneficial in keeping the feet cool. Many of these products can be supplied on prescription from your GP.

    • Walking some days will not be a problem but other days can be difficult. Many people ‘save’ their feet to do activities that they enjoy. However, it is important to encourage children to pace themselves during activities to avoid excess blistering as this will make the following days more difficult.

Suitable dressings and recommended products

The EB team at GOSH produce a list of suitable dressings and recommended products, which is updated frequently or as new products become available.

What happens next?

Children with EB simplex will need to attend regular outpatient appointments at their EB specialist centre and then move on to adult services at around 16 years of age.

Compiled by: 
The Clinical Nurse Specialist for Epidermolysis Bullosa and DEBRA in collaboration with the Child and Family Information Group at GOSH.
Last review date: 
February 2014
Ref: 
2013F0746

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