■着色性干皮病(XP)是一种罕见的常染色体隐性遗传疾病,其特征是紫外线辐射诱导的损伤修复,在许多其他人中,早期的皮肤癌。这篇系统的综述集中在临床之间的相关性,病态,XP和皮肤癌的遗传方面。
■通过在线数据库PubMed的文献检索进行了系统评价,科克伦图书馆,SciELO,谷歌学者。搜索词为“着色性干皮病”,\"XP\",\"XPC\",“核苷酸切除修复”,\"NER\",\"POLH\",“干性色素性皮肤”,和“紫外线敏感综合征”与“皮肤癌”术语啮合,\"黑色素瘤\",和“NMSC”。
■经过504份摘要筛选,对13篇全文文章进行了资格评估,其中3人被排除在外。选择了十篇文章进行定性评估。
■XP患者通常由于皮肤癌和神经退行性疾病而寿命较短。不同基因等位基因的缺失/改变可以产生不同类型的癌症。与其他补体组的患者相比,XPC和XP-E变体更容易患皮肤癌,这些患者最常见的死亡原因是皮肤癌(转移性黑色素瘤或侵袭性SCC)。尽管如此,积极的预防措施,以尽量减少紫外线辐射暴露可以延缓疾病的进程,提高生活质量。
UNASSIGNED: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induced damage repair that is characterized by photosensitivity and a propensity for developing, among many others, skin cancers at an early age. This systematic
review focused on the correlation between the clinical, pathological, and genetic aspects of XP and skin cancer.
UNASSIGNED: A systematic
review was conducted through a literature search of online databases PubMed, Cochrane Library, SciELO, and Google Scholar. Search terms were \"Xeroderma pigmentosum\", \"XP\", \"XPC\", \"Nucleotide excision repair\", \"NER\", \"POLH\", \"Dry pigmented skin\", and \"UV sensitive syndrome\" meshed with the terms \"Skin cancer\", \"Melanoma\", and \"NMSC\".
UNASSIGNED: After 504 abstracts screening, 13 full-text articles were assessed for eligibility, and 3 of them were excluded. Ten articles were selected for qualitative assessment.
UNASSIGNED: Patients with XP usually suffer shorter lives due to skin cancer and neurodegenerative disease. Deletion/alteration of a distinct gene allele can produce different types of cancer. The XPC and XP-E variants are more likely to have skin cancer than patients in other complement groups, and the most common cause of death for these patients is skin cancer (metastatic melanoma or invasive SCC). Still, aggressive preventative measures to minimize UV radiation exposure can retard the course of the disease and improve the quality of life.