NIPAL4 and congenital non-bullous ichthyosiform erythroderma: The two ARCI patients with NIPAL4 mutation had very severe CIE phenotypes, characterized by large brownish widespread scaling (Figure 3A,B), which were related to the presence of 2 novel null alleles, i.e., the nonsense p.Trp108* at the homozygous state (Figure 3A), and the frameshift p.Ser215Argfs* in trans with the frequent pathogenic missense variant c.527C>A (p.Ala176Asp) (Figure 3B), which has been already reported in Italian patients [16].