色素性干皮病合并急性髓性白血病和脑膜瘤:文献回顾

N. Mian, P. Kushwaha
{"title":"色素性干皮病合并急性髓性白血病和脑膜瘤:文献回顾","authors":"N. Mian, P. Kushwaha","doi":"10.35248/2155-9554.20.11.524","DOIUrl":null,"url":null,"abstract":"Xeroderma Pigmentosum (XP) a unique disorder, inherited as an autosomal recessive genodermatosis. Characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. Results from mutation in seven nucleotide excision repair gene (XPA to XP-G complement groups) and post replication repair defect (XP-Variant). This report aims to acknowledge the unique combination of XP along with neurological defects in a patient of acute myeloid leukemia.","PeriodicalId":15448,"journal":{"name":"Journal of clinical & experimental dermatology research","volume":"31 3 1","pages":"1-5"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Xeroderma Pigmentosum with Acute Myeloid Leukemia and Meningiomas: Review of Literature\",\"authors\":\"N. Mian, P. Kushwaha\",\"doi\":\"10.35248/2155-9554.20.11.524\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Xeroderma Pigmentosum (XP) a unique disorder, inherited as an autosomal recessive genodermatosis. Characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. Results from mutation in seven nucleotide excision repair gene (XPA to XP-G complement groups) and post replication repair defect (XP-Variant). This report aims to acknowledge the unique combination of XP along with neurological defects in a patient of acute myeloid leukemia.\",\"PeriodicalId\":15448,\"journal\":{\"name\":\"Journal of clinical & experimental dermatology research\",\"volume\":\"31 3 1\",\"pages\":\"1-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of clinical & experimental dermatology research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.35248/2155-9554.20.11.524\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of clinical & experimental dermatology research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.35248/2155-9554.20.11.524","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

着色性干皮病(XP)是一种独特的疾病,遗传为常染色体隐性遗传性皮肤病。特征为光敏、雀斑色素改变、皮肤过早老化、远端扩张、疣状和乳头状瘤生长,后期发展为恶性肿瘤。结果:7个核苷酸切除修复基因(XPA到XP-G补体群)突变和复制后修复缺陷(XP-Variant)。本报告的目的是承认XP的独特组合以及神经缺陷的急性髓性白血病患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Xeroderma Pigmentosum with Acute Myeloid Leukemia and Meningiomas: Review of Literature
Xeroderma Pigmentosum (XP) a unique disorder, inherited as an autosomal recessive genodermatosis. Characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. Results from mutation in seven nucleotide excision repair gene (XPA to XP-G complement groups) and post replication repair defect (XP-Variant). This report aims to acknowledge the unique combination of XP along with neurological defects in a patient of acute myeloid leukemia.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信