Mutations in the ABCA12 gene have been identified as the cause of autosomal recessive congenital ichthyosis (ARCI), including Harlequin Ichthyosis, congenital ichthyosiform erythroderma, and lamellar ichthyosis, depending on the type of ABCA12 mutation. Here, ABCA12 is linked to autosomal recessive congenital ichthyosis.