Table 3. Molecular Basis of EBS Types Caused by KRT5 and KRT14 Mutations

Phenotype% of all EBS InheritanceSeverityProportion of KRT5 MutationsProportion of KRT14 Mutations
EBS-loc 60%ADMild<50%>50%
<1%AR
EBS-gen-nonDM 15%ADModerate-severe<50%>50%
EBS-DM 25%<50%>50%
EBS-MP <1%95% 1 5%
All EBS 100%50%50%

In 25% of EBS mutations in KRT5 and/or KRT14 could not be demonstrated [Bolling et al 2010]

1. Hamada et al [2004], Horiguchi et al [2005]

From: Epidermolysis Bullosa Simplex

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