DSP and epidermolytic palmoplantar keratoderma, 1: Naxos disease is caused by a homozygous pathogenic variant in the plakoglobin gene (JUP), leading to ACM (100% penetrance), woolly hair, and palmoplantar keratoderma, [13] whereas in Carvajal syndrome, a recessive homozygous pathogenic variant in the desmoplakin gene (DSP) gives rise to similar symptoms [14,15].