Interestingly, she was also heterozygous for a rare missense variant in SULT2B1. This gene encodes the cholesterol sulfotransferase SULT2B1 involved in the regulation of epidermal cholesterol metabolism; its deficiency causes a cholesterol sulfate decrease and cholesterol accumulation, and results in an ARCI type with clinical signs overlapping with LI and CIE [36]. This evidence concerns the gene SULT2B1 and autosomal recessive congenital ichthyosis.