Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

This article explores the genetic and clinical aspects of autosomal recessive congenital ichthyosis (ARCI) caused by mutations in the NIPAL4 and PNPLA1 genes. The study investigates potential treatments for ARCI, including anti-interleukin therapy for cytokine dysregulation and pruritus. The authors conducted a retrospective analysis of patients with these gene mutations and evaluated their response to specific treatments. The results showed varying effects, highlighting the need for further research in this area. The article also includes a table summarizing the genetic variants and clinical features of twelve patients with different forms of ichthyosis and palmoplantar keratoderma. The study was conducted as part of the European Reference Network-SKIN subthematic group Ichthyosis and Palmoplantar Keratoderma and received ethical approval. [Extracted from the article]