Desmosomes: Structure and Function in Normal and Diseased Epidermis

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Abstract
Desmosomes are important epidermal adhesion complexes that are characterized by a cell‐specific expression of transmembrane cadherins and plaque‐associated molecules. Desmosomes have so far, been implicated in three main disease types: autoimmune diseases that involve desmosome components (such as pemphigus vulgaris and pemphigus foliaceus), congenital diseases that affect intracellular calcium channels (such as Hailey‐Hailey disease and Darier disease) and congenital diseases that directly affect desmosomal structural components. The identification of the first congenital defect affecting a desmosome component was in the gene for plakophilin 1 which caused an autosomal recessive skin fragility‐ectodermal dysplasia syndrome with skin, hair and nail defects. Subsequently, either a haploinsufficiency of desmoplakin or a defect in desmoglein 1 was found to underlie the autosomal dominant condition Striate Palmoplantar Keratoderma. In addition, plakoglobin has been shown to be defective in Naxos disease, which results in a cardiomyopathy and growth of abnormal hair. These findings pave the way for the discovery of further cell cohesion‐related diseases and will help to greatly increase our understanding of the specific function of desmosome and other epithelial junction components.