Four mutations were missense and one was splice-site, which is in line with the mutation type frequencies already present in the literature which include: twenty-six missense (60%), seven splice-site (14%), five nonsense (10%), six frameshift (12%), one indel (2%) and one gross deletion (2%), implying that ARCI patients with mutations in CYP4F22 are more likely to carry missense mutations than any other type of pathogenic variants [13,16,33–44]. The gene discussed is CYP4F22; the disease is autosomal recessive congenital ichthyosis.