表皮分化复合体在寻常型鱼鳞病发病中的机制

Role of epidermal differentiation complex in ichthyosis vulgaris

目的证常的表皮分化对于维护皮肤的屏障功能十分重要。表皮分化复合体定位于人类染色体1q21位点,其编码的蛋白如丝聚合蛋白、兜甲蛋白、S-100等在人类表皮的分化过程中具有决定性的作用。近年来有证据表明表皮分化复合体基因的变异将导致寻常型鱼鳞病。本文将在回顾正常表皮分化过程的基础上,结合最新的研究进展,对表皮分化复合体在寻常型鱼鳞病发病中的作用做一综述。

Undisturbed epidermal differentiation is crucial for maintaining the function of an intact skin as a barrier. The epidermal differentiation complex （EDC） is a cluster of genes on chromosome 1q21 encoding proteins that fulfils important functions in terminal differentiation in the human epidermis, including filaggrin, loricrin, S100 proteins and others. Recently, evidence emerged that variation within EDC genes plays an important role in the pathogenesis of ichthyosis vulgaris. This review gives an overview of the processes that take place during normal epidermal differentiation, describes the organization of the EDC, and summarizes the latest findings implicating EDC variation in the pathogenesis of ichthyosis vulgaris.