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Congenital vulnerability of cutaneous segments arising from skin mosaicism: A genetic basis for locus minoris resistentiae

机译:皮肤镶嵌症引起的皮肤节段的先天性易损性:小位点抗药性的遗传基础

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摘要

Mosaicism is a biologic phenomenon that describes an individual who has two or more populations of cells with distinct genotypes and concomitant patterned phenotypes (eg, lines of Blaschko). It is distinguished from chimerism by its derivation from a single fertilized egg rather than multiple cell lineages derived from distinct fertilized eggs. With respect to dermatologic disorders, it is the strongest genetic example of how a cutaneous site, being populated by cells with distinct antigenic or immunologic properties, differs in its susceptibility or resistance to skin disorders, being preferentially affected in the former (ie, locus minoris resistentiae). We review patterns and mechanisms of skin mosaicism and discuss examples of segmental/mosaic dermatologic disorders that have been superimposed on a background of a nonsegmental eruption of the same disease or dermatologic disorders that have arisen secondarily on segmental cutaneous disorders.
机译:镶嵌现象是一种生物现象,描述了一个个体,该个体具有两个或多个具有不同基因型和伴随模式化的表型(例如,布拉什科系)的细胞群。它与嵌合体的区别在于它源自单个受精卵,而不是源自不同受精卵的多个细胞谱系。就皮肤病而言,这是最强的遗传学实例,表明由具有不同抗原或免疫学特性的细胞组成的皮肤部位对皮肤疾病的敏感性或抗性不同,而在前者(即次要基因座)中受到优先影响抵抗力)。我们审查了皮肤镶嵌术的模式和机制,并讨论了在部分疾病/皮肤疾病继发于同一疾病或皮肤病的非节段性喷发背景下叠加的部分/马赛克性皮肤病的实例。

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