Despite its known implication in the development of ARCI, CYP4F22 is one of the least frequently reported ARCI genes along with CERS3, NIPAL4 and the very recently described SULT2B1, SDR9C7 and CASP14. In order to identify the molecular basis of ARCI among our patients, we performed a mutational screening through direct Sanger sequencing in combination with a multigene NGS panel in a cohort of ninety-two Spanish ARCI individuals. This evidence concerns the gene NIPAL4 and autosomal recessive congenital ichthyosis.