Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters. Painful open wounds and sores form where this exceptionally fragile skin is damaged – in some cases, internal linings and organs are also affected. Complications as a result of secondary infection and extensive scarring are factors that people living with EB often have to face.
Tragically, certain types of EB can be fatal in infancy and others are severely life-limiting. It is estimated that more than 5,000 people are living with EB in the UK, and 500,000 worldwide.
EB may be inherited in either a dominant or recessive form. EB can also arise through a new spontaneous mutation – neither parent carries EB but the gene mutates spontaneously in either the sperm or the egg before conception.
EB Simplex (EBS) is the most common form of Epidermolysis Bullosa and is characterised by a lack of adhesion of the skin directly above the basement membrane (the basal layer). Approximately 70% of people with EB have EBS. Most forms of EBS are inherited as dominant traits meaning the parents also demonstrate visible clinical signs of the condition. EBS typically manifests itself as blistering confined to the hands and feet. In another form of EBS, skin blisters can occur all over the body. Blistering generally appears during the neonatal period but it can also manifest itself in later childhood (or even in adult life). Painful skin blisters are accentuated by rubbing, especially on the feet where footwear causes increased irritation. People living with EBS have to cope with a range of complications – rubbing is worse in warm weather and infections are common.
Dystrophic EB (DEB) is a genetic skin condition characterised by a lack of adhesion of the skin under the basement membrane. Approximately 20% of people with EB have DEB. DEB may be inherited as a dominant or recessive trait. DEB derives its name from the tendency of the blisters to heal with scarring, leading to contraction of the joints, fusion of the fingers and toes, contraction of the mouth membranes and narrowing of the oesophagus. The severity of DEB varies widely. Often the dominant inherited type of DEB is the least severe type and the patient can lead an almost normal life. However, the severity of the condition does increase with age due to scarring, the fusion of the fingers and wastage of skin tissue. People living with Recessive DEB (RDEB) have a high chance of developing a squamous cell carcinoma before the age of 35.
Junctional EB (JEB) is characterised by a lack of adhesion of the skin through the basement membrane. Approximately 10% of people living with EB have JEB. JEB is inherited recessively which means that the parents are both carriers, often unknowingly, and do not show physical signs of the skin condition. The birth of a child with JEB is therefore totally unexpected. JEB generalised severe (previously Herlitz JEB), which affects around half of those diagnosed with JEB, is usually fatal in infancy with only a few babies surviving to the second or third year of life. These infants usually die from malnutrition and anaemia due to serious blistering in the pharynx and the oesophagus. The milder form of JEB, JEB generalised intermediate (previously Non-Herlitz JEB), does not impose life restrictions but can cause life-long pain and disability.
There is currently no known cure for EB. Current treatments are limited to pain relief, antibiotics for infected blisters/skin and surgery. Steroids are used to limit the inflammation but are limited because of their poor safety profiles and they cannot be used long term.
There is an opportunity for JEL1103 as an easily applied, safe, topical anti-inflammatory with the antimicrobial properties of the Nanocin that could offer a novel therapy that could help in many ways. The orphan indication for EB could be fast-tracked if we can demonstrate efficacy in skin tissue biopsies.
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