SA‐02, diagnosed with CIE and with the unreported ABCA12 missense mutation p.Arg1514Leu (c.4541G>T), presented a severe skin phenotype, including generalized severe scaling with fine white scales, pronounced erythema and palmoplantar keratoderma (Figure 1g). This evidence concerns the gene ABCA12 and epidermolytic palmoplantar keratoderma, 1.