While monoallelic mutations in desmosomal protein-encoding genes, such as DSC2, DSP and JUP, have been associated with isolated (non-syndromic) ARVC, biallelic mutations in these genes have been reported with concomitant phenotypes of ARVC and integumentary abnormalities, such as palmoplantar keratoderma (PPK) and woolly hair and/or alopecia7–10 (Table 1). This evidence concerns the gene JUP and arrhythmogenic right ventricular cardiomyopathy.