Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

Heterozygous mutations in DSG1, encoding desmoglein 1, result in autosomal dominant striate palmoplantar keratoderma (SPPK type 1; MIM 148700) [1] and approximately 25 different mutations have been reported. Although SPPK is the major finding, the keratoderma may sometimes be more focal or diffuse [2], and skin fragility can occur [3].