Black Jennifer O
Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, 13123 East 16th Avenue, Box 120, Aurora, CO, 80045, USA.
Head Neck Pathol. 2016 Jun;10(2):139-44. doi: 10.1007/s12105-016-0707-8. Epub 2016 Mar 14.
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.
着色性干皮病（XP）是一种罕见的紫外线辐射诱导损伤修复缺陷性疾病，其特征为对光敏感，在极少阳光照射后皮肤容易灼伤，早期出现雀斑以及雀斑样色素沉着，同时伴有皮肤异色症的其他特征，并且在早年就有患皮肤癌的倾向。在这篇简短的综述中，我们回顾了当前文献中XP的临床、病理、遗传和分子方面。XP涵盖了一系列与其他DNA修复系统疾病重叠的疾病。除了皮肤并发症外，由于紫外线辐射暴露及其副产物，患者还易患眼部疾病、神经退行性病变、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患者的寿命通常较短，但积极采取预防措施以尽量减少紫外线辐射暴露和损伤，可以改善疾病进程并延长寿命。该疾病已成为光老化和紫外线辐射诱导癌症的模型，并有助于更好地理解在正常个体中预防这些疾病特征发展的细胞过程。
