Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide

The study investigated a litter of Jack Russell Terriers with autosomal recessive congenital ichthyosis (ARCI) caused by a 1980 bp LINE-1 insertion in the TGM1 gene. Affected puppies exhibited severe hyperkeratosis, higher transepidermal water loss (TEWL), and elevated skin pH, impairing their mobility. Topical application of ω-0-acylceramide for 10 days normalized the skin pH and reduced TEWL, indicating partial repair of the skin barrier. The findings suggest that dogs with TGM1-deficient ARCI have a compromised skin barrier, which can be partially ameliorated with topical ceramide treatment.