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Epidermolysis bullosa (EB) encompasses a range of genetic diseases characterised by excessive fragility of the skin and mucous membranes when subjected to minimal trauma. The disease appears at birth or during the first few years of life, and lasts a lifetime. Prognosis is variable, but tends to be serious. Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications. There is currently no effective treatment available.
Depending on the area of skin where blistering occurs, the disease can be divided into four main groups, and subsequently 32 subgroups.
The most common cutaneous symptoms are blisters in the areas of greatest friction such as on the hands and feet. They are skin lesions that bleed and may form scabs that are easily infected and that itch constantly. Scratching contributes to new lesions and secondary infections of already affected areas.
Once blisters have healed, millium cysts appear, atrophic or hypertrophic scars that produce webbed hands and feet, joint contractures, as well as aesthetic and functionally limiting deformities in the hands or that affect walking. All this leads to loss of independence.
In addition, the chronic wounds may produce highly aggressive skin carcinoma.
Aside from this, extracutaneous manifestations may result, such as involvement of the skin annexes, teeth and the gastrointestinal systems, the urinary tract and the respiratory epithelium.
The disease has a low prevalence rate and affects one in every 17,000 live births worldwide.
The main method of diagnosis is mapping using immunofluorescence and electron microscopy techniques. In addition, genetic diagnosis is mandatory for these patients as the disease may have different evolutions and prognoses.
Although it is being researched, at the moment there is no cure for this disease, but preventative and symptomatic treatment of skin lesions can be carried out, as well as treatment for systemic complications. When the disease appears it is vital to act quickly as patients’ life expectancy and quality of life depends on it.
Currently, new cellular and molecular therapies are being researched to combat the disease.
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