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A study from the Dutch EB registry found an overall EB incidence of 41.3 per million live births and 22.4 per million population.[129] Similarly, a German study found an EB incidence of 45.1 per million live births.[130] However, a study from England and Wales found a much higher EB incidence of 67.8 per million population.[131] In the most extreme cases, EB can result in the congenital absence of the skin.[132] Dystrophic EB and junctional EB are associated with an increased risk of skin cancer, particularly SCC.[133] While the type of EB can be difficult to determine clinically, next-generation sequencing can define the EB subtype in up to 90% of cases.[134] Diagnosis of EB may be accomplished by immunofluorescence or electron microscopy.[135] The types of EB, pathogenic variants involved, and phenotypic characteristics are detailed in the following review.[136] For more information, see the EB simplex section
