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Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and mucous membranes which occur with minor trauma or friction. There are many types and subtypes of EB that need to be distinguished, as the management and prognosis of each can vary significantly. We aim to perform an up-to-date literature review on congenital EB for healthcare providers in pediatrics.
We performed a review of existing literature in the English language on EB via PubMed Clinical Queries, using keywords such as “epidermolysis bullosa”, “congenital” and “children”. We reviewed EB based on the following subheadings: epidemiology, diagnosis, therapy, prognosis, and clinical prediction guidelines.
EB is due to mutation in a number of genes, and some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the epidermis and dermis of the skin. There are four main types: epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, and Kindler syndrome. The diagnosis is suspected based on symptoms and confirmed by skin biopsy and definitive genetic testing. Severity of EB can range from mild to fatal. Severe complications may arise in some EB types and subtypes within the eye, ear, nose, upper airway, gastrointestinal and genitourinary tracts. There is no cure for the condition to date. Optimal management must be multidisciplinary and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.
EB is present in different forms. Treatment is supportive. The prognosis of milder forms is good. Children severely affected with EB and their families live a miserable life with impaired quality of life. Health care workers must be aware of the suffering in these families and be proactively support them.
An Unusual Case Report of Dystrophica Epidermolysis Bullosa in a Child
