Kimyai-Asadi Arash, Kotcher Lauren B, Jih Ming H
Ronald O. Perelman Department of Dermatology, The New York University School of Medicine, New York, USA.
J Am Acad Dermatol. 2002 Sep;47(3):327-43; quiz 344-6. doi: 10.1067/mjd.2002.124814.
In recent years, the gene defects causing many types of hereditary palmoplantar keratoderma have been discovered. These genes encode a variety of proteins involved in the terminal differentiation of keratinocytes and the formation of the cornified cell envelope. In this article, we review the molecular defects underlying various palmoplantar keratodermas with particular attention to the role of these molecules in the terminal differentiation of palmoplantar epidermis. Of the proteins involved in keratodermas, loricrin, keratins, and desmosomal proteins provide the protein structure of the cornified cell envelope. Connexins form intercellular gap junctions, which regulate ionic calcium signals necessary for the expression of the proteins that form the cornified cell envelope. Cathepsins likely mediate enzymatic processes necessary for the formation and dissolution of the cornified cell envelope. The clinical phenotypes produced by various mutations affecting these proteins are discussed vis-à-vis data from genetic, cellular, and molecular experiments.
近年来，已发现导致多种遗传性掌跖角化病的基因缺陷。这些基因编码多种参与角质形成细胞终末分化和角质化细胞包膜形成的蛋白质。在本文中，我们回顾了各种掌跖角化病的分子缺陷，特别关注这些分子在掌跖表皮终末分化中的作用。在与角化病相关的蛋白质中，兜甲蛋白、角蛋白和桥粒蛋白构成了角质化细胞包膜的蛋白质结构。连接蛋白形成细胞间间隙连接，调节形成角质化细胞包膜的蛋白质表达所需的离子钙信号。组织蛋白酶可能介导角质化细胞包膜形成和溶解所需的酶促过程。结合来自遗传学、细胞和分子实验的数据，讨论了影响这些蛋白质的各种突变所产生的临床表型。
