Xeroderma Pigmentosum
Xeroderma Pigmentosum
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DOI：
10.1007/s12105-016-0707-8
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发表时间：
2016-06-01
影响因子：
2.1
通讯作者：
Black, Jennifer O.
中科院分区：
文献类型：
--
作者：
Black, Jennifer O.
着色性干皮病（XP）是一种罕见的有缺陷的紫外线辐射引起的损伤修复疾病，其特征是光敏性，在最小的阳光照射下容易皮肤灼伤，早期雀斑和色斑色素沉着的发展，以及其他特征的着色性干皮病和早期发展为皮肤癌的倾向。在这个简短的回顾，临床，病理，遗传和分子方面的XP在目前的文献回顾。XP包含了一系列与DNA修复系统的其他疾病重叠的疾病。除了皮肤并发症外，由于紫外线辐射及其副产品，患者还容易患眼疾、神经退行性过程、中枢神经系统肿瘤和其他肿瘤。由于皮肤癌和神经退行性后遗症，XP患者经常经历较短的寿命，但积极的预防措施，以尽量减少紫外线辐射暴露和损害，可以改善病程和延长寿命。这种疾病已经成为光老化和紫外线辐射诱发的癌症的模型，并使人们更好地了解正常个体中阻止这些疾病特征发展的细胞过程。
Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age. In this short review, the clinical, pathological, genetic and molecular aspects of XP are reviewed in the current literature. XP encompasses a spectrum of disease that overlaps with other diseases of DNA repair systems. In addition to cutaneous complications, patients are susceptible to eye conditions, neurodegenerative processes, central nervous system tumors and other tumors as a result of UV radiation exposure and its byproducts. Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative measures to minimize UV radiation exposure and damage can improve the course of disease and prolong life. The disease has served as a model for photoaging and UV radiation-induced cancer and has led to a better understanding of cell processes that prevent development of these disease features in normal individuals.