Epidermolysis bullosa

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Genetics, incidence, classification and diagnosis of EB

Epidermolysis bullosa (EB) is a heterogeneous group of rare diseases of the skin with genetic origin. Sometimes, the mutation that causes EB is inherited from the parents. In other cases, it can appear de novo, meaning it can occur during egg or sperm formation or embryo development. In this first chapter, we will cover different aspects of the disease, like skin affectation (one of its main characteristics), the mutations associated with its development, the different types of EB and symptomatology, its incidence in the population and the methods that can be applied to its diagnosis.

Last modified
17 August 2023