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.
|Number of pages||9|
|Journal||Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids|
|Publication status||Published - 2014 Mar|
Bibliographical noteFunding Information:
Ms. Joan Wakefield provided superb editing, organizational and graphics skills for this manuscript. This work was supported by NIH grant AR061106 , and by the Medical Research Service, Department of Veterans Affairs . These contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIAMS or NIH.
All Science Journal Classification (ASJC) codes
- Molecular Biology
- Cell Biology