Krieger L, Berneburg M
Service de Dermatologie, Eberhard-Karls-Universität, Liebermeisterstrasse 25, 72076 Tübingen, Allemagne.
Ann Dermatol Venereol. 2012 Nov;139 Suppl 3:S78-82. doi: 10.1016/S0151-9638(12)70115-1.
The occurrence of abnormally pigmented skin lesions is a common phenomenon and often associated with the influence of ultraviolet radiation (UV) and other sources of DNA damage. Pigmentary lesions induced by UV radiation and other sources of DNA damage occur in healthy individuals, but human diseases with defective DNA repair represent important models which allow the investigation of possible underlying molecular mechanisms leading to hypo- and hyperpigmentations. There are several hereditary diseases which are known to go along with genetic defects of DNA repair mechanisms comprising Xeroderma pigmentosum (XP), Cockayne syndrome (CS), Trichothiodystrophy (TTD), Werner syndrome (WS), Bloom syndrome (BS), Fanconi anemia (FA) and Ataxia telangiectasia (AT). These diseases share clinical characteristics including poikilodermatic skin changes such as hypo-and hyperpigmentation. Since UV radiation is the most common source of DNA damage which can cause pigmentary lesions both in healthy individuals and in patients with genetic deficiency in DNA repair, in the present article, we focus on pigmentary lesions in patients with XP as an example of a disease associated with genetic defects in DNA repair.
异常色素沉着性皮肤病变的发生是一种常见现象，且常与紫外线辐射（UV）及其他DNA损伤源的影响相关。紫外线辐射和其他DNA损伤源诱导的色素沉着性病变可发生于健康个体，但DNA修复缺陷的人类疾病是重要的模型，可用于研究导致色素减退和色素沉着过度的潜在分子机制。已知有几种遗传性疾病与DNA修复机制的遗传缺陷有关，包括着色性干皮病（XP）、科凯恩综合征（CS）、毛发硫营养不良（TTD）、沃纳综合征（WS）、布卢姆综合征（BS）、范可尼贫血（FA）和共济失调毛细血管扩张症（AT）。这些疾病具有共同的临床特征，包括皮肤异色性改变，如色素减退和色素沉着过度。由于紫外线辐射是最常见的DNA损伤源，可在健康个体和DNA修复基因缺陷患者中引起色素沉着性病变，因此在本文中，我们以XP患者的色素沉着性病变为例，重点探讨与DNA修复基因缺陷相关的疾病。
