Background
What is Epidermolysis bullosa and how common is it within the UK?
Epidermolysis bullosa (EB) is a rare genetic disorder of the skin whereby blisters and wounds occur from minor friction and trauma. There are four main types of EB and they vary in symptom severity: milder cases involve blistering on the hands and feet alone, whereas in severe cases the blistering is widespread and can affect the internal organs.1 The UK prevalence of all EB types has been estimated to be 34.8 per million with an incidence of approximately 67.8 cases of any type per million live births.2
Current treatment
There is no cure for EB and current treatments are restricted to symptom alleviation.2 The aim of treatments is to help avoid skin damage, improve quality of life and reduce the risk of developing complications such as infection and malnutrition. Wound care and pain relief are the most common treatment types, often using interventions such as birch bark extract to speed healing of partial thickness wounds (ones that that affect only the top 1-2 layers of skin e.g. blisters or abrasions3). Other interventions include providing advice on behaviour changes that can help to avoid skin trauma, such as wearing loose clothing made from breathable fabrics, and only walking short distances to avoid blisters forming on the soles of the feet.4
Unmet needs
Patients with EB report profound effects on their quality of life due to chronic symptoms, incurred treatment costs, reduced work/school productivity and low-mood states, amongst an array of factors.
Complications, such as aberrant wound healing, scarring and infection, as well as the psychosocial impact, mean that this disease is clinically challenging and requires expert multidisciplinary management.
The prominent unmet need in EB is the lack of a cure or treatments that target the disease itself rather than symptoms, therefore not reducing the burden of the disease.5
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