Pigmentary disorders of the eyes and skin
Pigmentary disorders of the eyes and skin
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DOI：
10.1016/j.clindermatol.2014.10.007
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发表时间：
2015-03-01
影响因子：
2.7
通讯作者：
Ricketts, Janette
中科院分区：
文献类型：
--
作者：
Que, Syril Keena T.;Weston, Gillian;Ricketts, Janette
皮肤白化病、Menkes综合征、结节性硬化症、1型神经纤维瘤病、先天性角化不良症、泛浅透镜体病综合征、色素失禁和Waardenburg综合征都是基因突变影响多种生物学途径的遗传性皮肤病，包括黑色素合成、铜转运、细胞增殖、端粒酶功能、细胞凋亡和黑素细胞生物学。盘尾丝虫病是由线虫感染引起的全身炎症反应引起的。伊藤黑素减退症是由染色体嵌合体引起的，这是其表型异质性的基础。黑素细胞不完全迁移到表皮和其他器官是太田痣的潜在特征。Vogt-Koyangi-Harada和白癜风有自身免疫性病因；前者与相当多的多器官受累有关，而后者主要限于皮肤。(C) 2015爱思唯尔公司版权所有。
Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited. (C) 2015 Elsevier Inc. All rights reserved.