Skin cancer in epidermolysis bullosa (EB)

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.

EB is caused by a faulty gene (gene mutation) that results in certain proteins in the skin forming incorrectly. This means they are unable to fulfil their role in attaching the layers of skin together, so the skin is more fragile.

There are different types of EB, but as EB is genetic, the type of EB your child has will always stay the same.

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

Some types of EB have an increased risk of developing a type of skin cancer called squamous cell carcinoma (SCC). SCC develops from the outer layer of the skin. The skin blistering, wounds and scarring associated with some types of EB can increase the risk of SCC developing.

SCC can affect the skin on the body or the inside of the mouth.

Severe forms of EB like RDEB and intermediate junctional EB have an increased risk of developing an SCC.

The risk of developing an SCC for people with other forms of EB is lower. Many EB subtypes, particularly EB simplex, are not associated with an increased risk.

The risk of developing SCC increases with age but can arise in children and teenagers with severe RDEB.

If your child has a severe form of EB they should:

• Check the skin and mouth for changes every day, as part of their daily skin routine.
• Have a full skin examination with their EB nurse every three to six months from the age of 10 years.
• See their specialist EB dentist every six months, to check inside the mouth.

People with less severe forms of EB should start having full skin exams with their specialist EB nurse every six months to a year from the age of 20. They should also monitor their own skin in between appointments.

You and your child know their skin best, so are often the first to recognise any changes. Even if your child is confident in checking their own skin, we recommend you help them to check any areas that might be tricky to see themselves, like their back. It can be helpful to take photos to compare the skin and help spot any changes.

If you are unsure how often you should check your child’s skin or have any worries, please speak with your EB team.

Skin

It’s important to monitor any sore or inflamed wounds that are present for three months or longer.

It can be difficult to identify changes in a wound, but signs to look out for include, but are not limited to:

• A wound which doesn’t heal and lasts longer than normal.
• A rapidly growing wound that has a raised appearance.
• A deep raw area that has a raised or rolled edge.
• An area of thickened skin with raised edges.
• A wound which has become painful, which wasn’t painful before.
• A wound with little feeling.
• A wound that feels different to normal EB wounds.
• A new area of skin that is not a wound but is getting thicker and/or painful.
• A thick raised crusty area.

Inside of the mouth

Your child should visit their specialist EB dentist every six months. The dentist will examine any persistently sore or painful areas in the mouth and check for any changes. If your child experiences changes between visits, please contact your EB team.

In between visits, you should look out for any areas of the mouth that are:

• persistently sore
• don’t heal
• are different from what is usual for your child

If you are worried about an area of skin, please contact the EB team (contact details below).

If we’re concerned about an area of your child’s skin we will refer them to the plastics team at GOSH for a skin biopsy. In this a small sample of skin will be taken, and then sent for assessment in a specialist lab.

Tissue samples are usually taken either under a local anaesthetic using medicine to numb the area, or under a general anaesthetic where local anaesthesia isn’t possible.

If the sample shows us that your child does have an SCC, you will meet with a specialist team to discuss further tests and treatment.

SCCs are usually surgically removed and can often be completely cured if they are spotted and treated quickly.

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. Please click the link below to find out more:

Debra website