BACKGROUND: Basal epidermolysis bullosa simplex (EBS) is a hereditary skin 
blistering disorder resulting in most cases from missense mutations in the 
keratin 5 (KRT5) or keratin 14 (KRT14) genes.
OBJECTIVES:   To identify the underlying mutations in different EBS subtypes and 
correlate genotype and phenotype.
METHODS: Mutation analysis was performed in 53 patients with EBS and their 
families by direct sequencing of the KRT5 and KRT14 genes.
RESULTS:   We identified 39 different mutations, of which 15 have not been 
published previously. Three novel deletion/insertion mutations, among them one 
in-frame duplication, were associated with the rare phenotype of EBS with 
mottled pigmentation. We identified for the first time a patient with compound 
heterozygosity for KRT5 mutations causing Dowling-Degos disease and EBS.
CONCLUSIONS:   Identification of novel mutations and genotype-phenotype 
correlations in EBS allow improved understanding of disease pathogenesis as well 
as better patient management.