Genetics of Inherited Ichthyoses and Related Diseases

January 2020 in “ Acta Dermato Venereologica ”

Judith Fischer, E. Bourrat

ichthyoses autosomal recessive congenital ichthyoses TGM1 gene PRSS8 gene ω-O-acylceramides skin barrier function gene therapy lamellar ichthyosis skin barrier genetic therapy

Studysummary This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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.

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