research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
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5 / 161 results research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
research Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.
research Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
This study found that a gluconolactone-based shampoo and lotion significantly reduced skin scaling in golden retrievers with autosomal recessive congenital ichthyosis.
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