More than 120 dominant and recessive DSP variants have been reported to be associated with skin, hair and/or heart defects such as dominant inherited arrhythmogenic right ventricular cardiomyopathy (OMIM 615,821) and recessive inherited Carvajal syndrome (OMIM 605,676) characterized by an extreme type of dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia associated with woolly hair and epidermolytic palmoplantar keratoderma. This evidence concerns the gene DSP and palmoplantar keratoderma, epidermolytic.