摘要色素障碍性皮肤病主要由黑素细胞功能障碍或数目异常所致,严重影响皮肤外观.近期一系列研究报道,Notch信号通路组成部分功能的异常或缺失与人类遗传性色素障碍性皮肤疾病发病相关.Notch信号通路是一条高度保守的调控细胞分化增殖凋亡的信号传导途径,但其如何导致色素异常的致病机制尚不明确.探讨Notch信号通路在遗传性色素障碍性皮肤病的研究进展,为理解遗传因素在黑素细胞生长发育和功能中发挥的作用提供了新视野.

abstractsPigmentary disorders, a class of common diseases in dermatology caused by abnormalities in melanocyte function or count, severely affects skin appearance of patients.Recently, a series of reports have suggested that hereditary pigmentary disorders are associated with the abnormality in or loss of function of the highly conserved Notch signaling pathway, which is important for the regulation of cell differentiation, proliferation and apoptosis.However, how the Notch signaling pathway causes aberrant pigmentation remains unclear.This article reviews advances in the Notch signaling pathway in hereditary pigmentary disorders, which may provide new insights into the roles of genetic factors in melanocyte development and function.