biostudies-literatureElias PMNIAMS NIH HHS353-61https://www.ebi.ac.uk/biostudies/studies/S-EPMC3966299biostudies-literatureUnknown1841(3)X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a 'cholesterol sulfate cycle' that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is Biochimica et biophysica actaRole of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.PMC3966299R01 AR061106AR061106Williams MLChoi EHElias PMFeingold KRfalseRole of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a 'cholesterol sulfate cycle' that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is 2014-01-01T00:00:00Z2014 Mar2025-04-04T08:41:17.166Z2019-03-27T01:23:58ZS-EPMC39662992429132710.1016/j.bbalip.2013.11.009