Epidermolysis Bullosa or EB is a rare and genetically inherited disorder of the skin, characterised by severe and recurrent blistering of the skin in response to minor trauma or friction as two layers of the skin, the dermis and epidermis, do not stick together properly.
In most cases, the onset of EB is at birth or shortly after. Those born with EB have skin so fragile they are often referred to as ‘butterfly children’.
The most significant problem in EB is the life-long presence of blistering, wound infections and partially chronic wounds resulting in pain, scarring and immobility. Dressing changes to treat these wounds can take several hours each day and are extremely painful, often requiring the use of opioid drugs to manage the pain.
A large percentage of the body, including mucous membranes can be affected by wounds, resulting in broad physiological effects on the body including oesophageal strictures, nutritional problems, anaemia requiring transfusions, renal impairment, osteoporosis with bone fractures and decreased mobility.
AP101 (Oleogel S-10) is being developed as a prescription medicine for EB, for which there are severely limited treatment options. It is currently in an investigational global Phase III clinical trial for this indication; however, it has already been approved in Europe for use in the treatment of partial thickness wounds (PTW) in adults.
It is estimated that there are more than 500,000 people living with EB worldwide. There is currently no known cure for EB.
Disease severity differs greatly depending on the type/sub-type of EB. The condition has been divided into three main types depending where in the skin the problem occurs:
Although often life-altering, this is the most common subtype of EB, causing less troublesome disease compared to other types. With the exception of its most severe types, EB simplex only affects the skin; blistering is limited, sometimes just restricted to the hands and feet and where clothing causes friction. Heat and humidity can also cause the condition or make it worse.
DOMINANT DYSTROPHIC AND RECESSIVE DYSTROPHIC EB (DEB):
DEB is one of the major forms of Epidermolysis Bullosa. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases involve widespread blistering and wounding that can lead to blindness, scarring and the deformity and rigidity of joints. In such cases, there is also a high chance of developing squamous cell carcinoma of the skin before the age of 35.The majority of DEB patients are managed by specialised centres.
JUNCTIONAL EPIDERMOLYSIS BULLOSA (JEB):
A rare form of EB. JEB has a broad spectrum of severity from milder forms to the lethal form of generalised severe JEB with most (87%) not surviving beyond the first year of life. In all forms of JEB, the most problematic wounds occur on the scalp and lower legs.