Lehmann Janin, Seebode Christina, Martens Marie Christine, Emmert Steffen
Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany.
Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany
Anticancer Res. 2018 Feb;38(2):1159-1164. doi: 10.21873/anticanres.12335.
Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. XP belongs to the group of DNA repair defective disorders that are mainly diagnosed in the clinic and in hindsight confirmed at the molecular level. Unfortunately, there are no causative treatment options for this rare, autosomal-recessive disorder, emphasizing the importance of an early diagnosis. Subsequently, UV-protective measures such as the reduction of exposure to environmental UV and regular skin cancer screenings should be undertaken to substantially improve prognosis as well as the disease course.
紫外线（UV）诱导的DNA损伤几乎完全由核苷酸切除修复（NER）途径去除，这对于预防皮肤癌的发生至关重要。着色性干皮病（XP）患者由于NER级联反应成分的基因缺陷而对阳光极度敏感。他们在早年就出现皮肤过早老化的最初迹象，患紫外线诱导皮肤癌的风险显著增加。XP属于DNA修复缺陷性疾病组，主要在临床上诊断，并在事后在分子水平上得到证实。不幸的是，对于这种罕见的常染色体隐性疾病没有病因治疗选择，这凸显了早期诊断的重要性。随后，应采取减少环境紫外线暴露和定期皮肤癌筛查等紫外线防护措施，以显著改善预后和病程。
