Williams M L
Pediatr Dermatol. 1983 Jul;1(1):1-24. doi: 10.1111/j.1525-1470.1983.tb01087.x.
Disturbances in the process of normal cornification leading to pathologic scaling provide the pathophysiologic basis for the ichthyoses. These disturbances may result from either abnormalities in protein metabolism (keratinization) (i.e., the "bricks") or in lipid metabolism (i.e., the "mortar") (Fig. 1). The evidence linking the various ichthyoses to defects in protein or lipid metabolism have been reviewed. It is likely that future advances will lead not only to a more complete understanding of the pathogenesis of these disorders, but also will shed significant light on the normal stratum corneum functions of barrier formation and desquamation, as well as lead the way to more rational and effective therapies. In recent years, prenatal diagnosis has been successfully performed in several of the ichthyoses. It is likely that improvements in our ability to prenatally diagnose those disorders will advance hand-in-hand with further progress in unraveling their underlying causes.
正常角化过程中的紊乱导致病理性脱屑，这为鱼鳞病提供了病理生理基础。这些紊乱可能源于蛋白质代谢（角化）异常（即“砖块”）或脂质代谢异常（即“灰浆”）（图1）。已对将各种鱼鳞病与蛋白质或脂质代谢缺陷联系起来的证据进行了综述。未来的进展不仅可能会使我们对这些疾病的发病机制有更全面的了解，还将显著阐明角质层在屏障形成和脱屑方面的正常功能，同时为更合理有效的治疗方法指明方向。近年来，已成功地对几种鱼鳞病进行了产前诊断。我们产前诊断这些疾病能力的提高可能会与在揭示其根本原因方面的进一步进展齐头并进。
