Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis

The review article discussed the molecular genetics of heritable ichthyosis, a group of keratinization disorders characterized by dry, scaly skin. It highlighted the identification of over 67 genes associated with different types of ichthyosis, emphasizing the importance of specific genetic mutations for accurate diagnosis, prognosis, and potential allele-specific therapies. Advances in next-generation sequencing (NGS) have facilitated the identification of pathogenic mutations, with a recent study identifying mutations in 85% of 125 families with autosomal recessive congenital ichthyosis (ARCI). The discovery of new ARCI-associated genes, such as SDR9C7 and SULT2B1, underscored the genetic and phenotypic diversity of these disorders. The document also discussed the broader systemic implications of these genetic mutations, such as the association of CLDN1 mutations with Neonatal Ichthyosis with Sclerosing Cholangitis (NISCH) syndrome and ABHD5 mutations with Chanarin-Dorfman syndrome (CDS). Overall, the findings underscored the genetic and phenotypic heterogeneity of keratinization disorders.