NIPAL4 Mutation c.527C>A Identified in Romanian Patients With Autosomal Recessive Congenital Ichthyosis

This study identified the NIPAL4 mutation c.527C>A in 3 Romanian patients with autosomal recessive congenital ichthyosis, marking the first report of this mutation in such patients from Romania. The patients, two sisters and an unrelated female, exhibited generalized ichthyosis, palmoplantar keratoderma, and normal hair shafts, with stable phenotypes over time. Treatment with retinoids normalized skin conditions in two patients. Histological analysis showed hyperkeratosis and acanthosis, while transglutaminase 1 activity assays excluded TGM1 deficiency. The findings suggested that NIPAL4 mutations were more common than TGM1 mutations in Romanian patients with this condition.