Genetics of Inherited Ichthyoses and Related Diseases

The document reviewed the genetic aspects and clinical characteristics of inherited ichthyoses and related diseases, focusing on a study of 74 Italian patients with autosomal recessive congenital ichthyoses to explore genotype-disease severity associations. It identified novel genetic variants, including a homozygous nonsense variant in the TGM1 gene and a mutation in the PRSS8 gene linked to autosomal recessive ichthyosis. The role of ω-O-acylceramides in skin barrier function and the potential for gene therapy in treating TGM1-dependent lamellar ichthyosis were also discussed, providing insights into genetic underpinnings and therapeutic approaches for these skin disorders.