{"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}
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.