Mutations in the ABCA12 coding gene cause depletion of lipids in the intercellular lipid layer ultimately provoking Harlequin-type ichthyosis (HI), lamellar ichthyosis type 2 (LI) or congenital ichthyosiform erythroderma (CIE), autosomal recessive congenital disorders associated with skin lesions that in severe cases may be fatal shortly after birth [3, 5]. The gene discussed is ABCA12; the disease is Harlequin ichthyosis.