Giehl K, Braun-Falco M
Klinik und Poliklinik für Dermatologie und Allergologie, Ludwig-Maximilians-Universität München, Frauenlobstr. 9-11, 80337, München, Deutschland.
Hautarzt. 2010 Jul;61(7):567-77. doi: 10.1007/s00105-009-1917-8.
Pigmentation in human skin differs individually and is regulated by more than 100 genes. The discovery of an increasing number of these genes has shed light on the molecular basis and pathogenesis of genetic pigmentary disorders. They are very rare and can be caused by changes in melanocyte number or melanin synthesis as well as development, transport and transfer of melanosomes. Pigmentary disorders can be divided into hyper- and hypopigmentation, of which the distribution can be diffuse or localized. Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome. Hyperpigmentation can be divided into diffuse, reticular or localized forms. They must be distinguished from endocrinopathies which may show hyperpigmentation, and from poikilodermatous syndromes displaying internal involvement.
人类皮肤的色素沉着存在个体差异，且受100多个基因调控。越来越多此类基因的发现，为遗传性色素沉着障碍的分子基础和发病机制提供了线索。这些疾病非常罕见，可能由黑素细胞数量变化、黑色素合成以及黑素小体的发育、运输和转移引起。色素沉着障碍可分为色素沉着过多和色素沉着过少，其分布可为弥漫性或局限性。局限性色素沉着过少可见于白斑病、瓦登伯革氏综合征和蒂茨综合征，而弥漫性形式则是眼皮肤白化病、赫尔曼斯基-普德拉克综合征、切迪阿克-东综合征和格里塞利综合征的典型表现。色素沉着过多可分为弥漫性、网状或局限性形式。必须将它们与可能出现色素沉着过多的内分泌病以及表现出内部受累的皮肤异色症综合征区分开来。
