Blistering skin diseases: models for studies on epidermal–dermal adhesion

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Abstract
Blistering skin diseases represent a genetically and biologically heterogeneous group of pathologic conditions with attenuated epithelial adhesion in the skin or in mucosal surfaces. Investigations on genetic blistering disorders with ultrastructural analysis, determination of candidate genes, and isolation and characterization of the target proteins have had a major impact on our understanding of normal epithelial–mesenchymal interactions and epithelial cell adhesion in general. A high degree of molecular heterogeneity underlies the different pathological phenotypes, and certain genotype–phenotype correlations are starting to emerge. Accumulating data on the molecular basis of different blistering diseases have already disclosed ample new information on the physiological functions of many of the molecular components of the dermal–epidermal junction, and we expect a rapid expansion of knowledge on the field when genotype–phenotype correlations of more patients are discerned.Key words: anchoring fibrils, basement membrane, blistering disorders, COL7A1 mutations, recessive dystrophic epidermolysis bullosa.