NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

Abstract

Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation c.527C>A.

Keywords

• autosomal recessive congenital ichthyosis
• nipal4 mutation
• transglutaminase 1
• electron microscopy