Specifically, the pathogenic mutations include the R156H in KRT10 corresponding to epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) (Cheng et al., 1992; Rothnagel et al., 1992), R114H in KRT13 corresponding to oral white sponge naevus (Nishizawa et al., 2008), R127H in KRT16 corresponding to pachyonychia congenital-K16 (Wilson et al., 2014), and R94H in KRT17 corresponding to pachyonychia congenital type 2 (Smith et al., 1997). The gene discussed is KRT13; the disease is epidermolytic ichthyosis.