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Pigmentary disorders of the eyes and skin

机译:眼睛和皮肤色素沉着

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摘要

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.
机译:眼皮肤白化病,Menkes综合征,结节性硬化症,1型神经纤维瘤病,先天性角化不全,proentis profusa综合征,色素失禁和Waardenburg综合征都是遗传皮肤病,它们具有确定的基因突变,可影响多种生物途径,包括黑色素合成,铜转运,细胞增殖,端粒酶功能,凋亡和黑素细胞生物学。盘尾丝虫病是由对线虫感染的全身性炎症反应引起的。伊藤的黑素病是由染色体镶嵌引起的,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病因。前者与相当多的器官参与有关,而后者主要受皮肤限制。 (C)2015 Elsevier Inc.保留所有权利。

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