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What causes it?
EB is a group of inherited conditions caused by problems with the chemicals that normally help to cement the layers of skin together.
At least 27 different types of EB have been described, but the three main forms are EB simplex, junctional EB and dystrophic EB.
The inheritance pattern of EB depends on the type. Autosomal dominant variants tend to be milder. Autosomal recessive forms tend to be more severe or even fatal. In these cases there's usually no family history of the condition.
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What are the symptoms?
Symptoms depend on the type of EB and which layer of skin cells is affected.
Blistering is the most common symptom and may cause problems ranging from minor disruption to, in some types, life-threatening illness.
In EB simplex, the most common form of EB, blistering is usually limited to the hands and feet, but may occur all over the body. EB simplex may first appear in babies or later childhood, or even adult life.
Junctional EB, which affects ten per cent of cases, is usually more severe. About half of children with this form don't survive toddler years, mainly because the lining of the gut becomes damaged and eating or swallowing becomes difficult.
Dystrophic EB may lead to severe disability because it often results in extensive scarring of the hands, feet, limbs, face and gastrointestinal tract.
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Who's affected?
Around one in 17,000 babies is born with EB. It's estimated there are around 5,000 people in the UK with this condition. Around one in 227 people carries a gene for EB, although many of these aren't affected.
EB affects males and females of all races around the world.
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What's the treatment?
There's no cure for EB. Treatment involves reducing friction and injury, and preventing or treating infection of blisters to reduce chronic damage.
Treatments to reduce scarring and prevent contractures, and to help maintain nutrition when the mouth or oesophagus is affected, are also important.
Antenatal tests are available for EB, at eight to ten weeks of pregnancy.
EB is a group of inherited conditions caused by problems with the chemicals that normally help to cement the layers of skin together.
At least 27 different types of EB have been described, but the three main forms are EB simplex, junctional EB and dystrophic EB.
The inheritance pattern of EB depends on the type. Autosomal dominant variants tend to be milder. Autosomal recessive forms tend to be more severe or even fatal. In these cases there's usually no family history of the condition.
Top
What are the symptoms?
Symptoms depend on the type of EB and which layer of skin cells is affected.
Blistering is the most common symptom and may cause problems ranging from minor disruption to, in some types, life-threatening illness.
In EB simplex, the most common form of EB, blistering is usually limited to the hands and feet, but may occur all over the body. EB simplex may first appear in babies or later childhood, or even adult life.
Junctional EB, which affects ten per cent of cases, is usually more severe. About half of children with this form don't survive toddler years, mainly because the lining of the gut becomes damaged and eating or swallowing becomes difficult.
Dystrophic EB may lead to severe disability because it often results in extensive scarring of the hands, feet, limbs, face and gastrointestinal tract.
Top
Who's affected?
Around one in 17,000 babies is born with EB. It's estimated there are around 5,000 people in the UK with this condition. Around one in 227 people carries a gene for EB, although many of these aren't affected.
EB affects males and females of all races around the world.
Top
What's the treatment?
There's no cure for EB. Treatment involves reducing friction and injury, and preventing or treating infection of blisters to reduce chronic damage.
Treatments to reduce scarring and prevent contractures, and to help maintain nutrition when the mouth or oesophagus is affected, are also important.
Antenatal tests are available for EB, at eight to ten weeks of pregnancy.