Mosaic GNAQ and GNA11 mutations may cause phacomatosis melanorosea and phacomatosis melanocesioflammea  

作　　者：Daniele Torchia 

机构地区：[1]Department of Dermatology,James Paget University Hospital,Great Yarmouth NR316LA,UK

出　　处：《Pediatric Investigation》2024年第3期240-240,共1页儿科学研究(英文)

摘　　要：To the editor:In a recent article published in Pediatric Investigation,Zhang et al.reported a case series of phacomatosis pigmentovascularis(PPV).1 Among such cases,one was described as featuring an extensive lateralized telangiectatic nevus,a large hypermelanotic patch and a Klippel-Trenaunay phenotype;and another an extensive lateralised telangiectatic nevus,a nevus anemicus,an extensive nevus cesius,a large hypermelanotic patch and a Sturge-Weber-Klippel-Trenaunay phenotype.1 These cases were diagnosed as unclassifiable PPV and phacomatosis cesioflammea;instead,their clinical features are compatible with phacomatosis melanorosea(PMR)and phacomatosis melanocesioflammea(PMCF),respectively.

关 键 词：phacomatosis melanocesioflammea mosaic gna mutations nevus anemicusan mosaic gnaq mutations large hypermelanotic patch telangiectatic nevus phacomatosis pigmentovascularis ppv 

分 类 号：R739.5[医药卫生—肿瘤]