Elias Peter M, Williams Mary L, Choi Eung-Ho, Feingold Kenneth R
Dermatology Service, Department of Veterans Affairs Medical Center, and Department of Dermatology, University of California, San Francisco, CA USA.
Departments of Dermatology and Pediatrics, University of California, San Francisco, CA USA.
Biochim Biophys Acta. 2014 Mar;1841(3):353-61. doi: 10.1016/j.bbalip.2013.11.009. Epub 2013 Nov 27.
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.
X连锁鱼鳞病是一种相对常见的综合征型鱼鳞病，最常见的原因是位于X染色体短臂上的编码微粒体酶类固醇硫酸酯酶的基因发生缺失。除非相邻基因受到影响，否则综合征特征通常较轻或不明显。在正常表皮中，胆固醇硫酸酯由胆固醇磺基转移酶（SULT2B1b）生成，但在表皮外层被脱硫，共同形成一个“胆固醇硫酸酯循环”，该循环有力地调节表皮分化、屏障功能和脱屑。在X连锁鱼鳞病中，胆固醇硫酸酯水平可能超过总脂质质量的10%（约占总体重的1%）。多种细胞和生化过程导致了X连锁鱼鳞病中屏障异常和鳞屑表型的发病机制。本文是名为“脂质在表皮中的重要作用及其在皮肤屏障形成和维持中的作用”特刊的一部分。客座编辑：肯尼斯·R·费因戈尔德和彼得·埃利亚斯。
