SPINK5 and congenital non-bullous ichthyosiform erythroderma: Intriguingly, Di et al. [29] reported the case of a patient with a heterozygous null mutation (2458insA in a noncoding region) combined with a c.1258A>G polymorphism (rs2303067) on both alleles of SPINK5; despite the normal expression of LEKTI mRNA and protein synthesis, this led to impaired protein function as well as the abnormal expression of skin barrier proteins, finally resulting in an NS phenotype consisting of ichthyosiform erythroderma, trichorrhexis invaginata, and hyperimmunoglobulin E.