title: Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.
abstract: 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 part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias.
authors.affiliation: Dermatology Service, Department of Veterans Affairs Medical Center, and Department of Dermatology, University of California, San Francisco, CA USA. Electronic address: eliasp@derm.ucsf.edu.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Elias
authors.affiliation: Departments of Dermatology and Pediatrics, University of California, San Francisco, CA USA.
authors.forename: Mary L
authors.initials: ML
authors.lastname: Williams
authors.affiliation: Department of Dermatology, Yonsei University, Wonju College of Medicine, Wonju, South Korea.
authors.forename: Eung-Ho
authors.initials: EH
authors.lastname: Choi
authors.affiliation: Medical Service, Department of Veterans Affairs Medical Center, and Department of Medicine, University of California, San Francisco, CA, USA.
authors.forename: Kenneth R
authors.initials: KR
authors.lastname: Feingold
mesh_terms: D002454:Cell Differentiation / Q000235:genetics*; D002788:Cholesterol Esters / Q000235:genetics / Q000378:metabolism; D004817:Epidermis / Q000201:enzymology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D008297:Male; D015238:Sulfotransferases / Q000235:genetics / Q000378:metabolism
chemical_list: D002788:Cholesterol Esters; D015238:Sulfotransferases; C433248:SULT2B1 protein, human; C007045:cholesteryl sulfate
keywords: Cholesterol sulfate; Corneodesmosomes; Epidermal barrier function; Epidermal lipid metabolism; Steroid sulfatase; X-linked ichthyosis