新生儿结节性硬化症:皮肤真的是窗口吗?

T. Kulkarni, K. El-Atawi, M. Elhalik
{"title":"新生儿结节性硬化症:皮肤真的是窗口吗?","authors":"T. Kulkarni, K. El-Atawi, M. Elhalik","doi":"10.15406/JPNC.2021.11.00437","DOIUrl":null,"url":null,"abstract":"We report a case of a neonate who was diagnosed to have intracardiac mass as a fetus and presented with white linear papules that was diagnosed to be Linear Verrucous Epidermal Nevus. Apart from the intracardiac mass, most likely rhabdomyoma, MRI Brain also showed presence of tubers and the Next Generation Sequence Analysis confirmed the diagnosis of Neonatal Tuberous Sclerosis. The neonate remained asymptomatic and was discharged home and remains under close follow up without any symptoms. It is thus suggested that Linear Verrucous Epidermal Nevus, a cutaneous manifestation not described with Tuberous Sclerosis could be considered under the ever-expanding cutaneous signs of Tuberous Sclerosis and should alert the physician toward its possibility.","PeriodicalId":92678,"journal":{"name":"Journal of pediatrics & neonatal care","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Neonatal Tuberous Sclerosis: is skin really the window?\",\"authors\":\"T. Kulkarni, K. El-Atawi, M. Elhalik\",\"doi\":\"10.15406/JPNC.2021.11.00437\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report a case of a neonate who was diagnosed to have intracardiac mass as a fetus and presented with white linear papules that was diagnosed to be Linear Verrucous Epidermal Nevus. Apart from the intracardiac mass, most likely rhabdomyoma, MRI Brain also showed presence of tubers and the Next Generation Sequence Analysis confirmed the diagnosis of Neonatal Tuberous Sclerosis. The neonate remained asymptomatic and was discharged home and remains under close follow up without any symptoms. It is thus suggested that Linear Verrucous Epidermal Nevus, a cutaneous manifestation not described with Tuberous Sclerosis could be considered under the ever-expanding cutaneous signs of Tuberous Sclerosis and should alert the physician toward its possibility.\",\"PeriodicalId\":92678,\"journal\":{\"name\":\"Journal of pediatrics & neonatal care\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-03-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatrics & neonatal care\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15406/JPNC.2021.11.00437\",\"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 pediatrics & neonatal care","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15406/JPNC.2021.11.00437","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

我们报告了一例新生儿,他在胎儿时期被诊断为心内肿块,并出现白色线状丘疹,被诊断为线状疣状表皮痣。除了心内肿块,最有可能是横纹肌瘤,MRI大脑也显示出结节的存在,下一代序列分析证实了新生儿结节性硬化症的诊断。新生儿仍然没有症状,出院回家,仍在密切随访中,没有任何症状。因此,有人建议,线性疣状表皮痣,一种未描述为结节性硬化症的皮肤表现,可以被认为是结节性硬化病不断扩大的皮肤体征,并应提醒医生注意其可能性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Neonatal Tuberous Sclerosis: is skin really the window?
We report a case of a neonate who was diagnosed to have intracardiac mass as a fetus and presented with white linear papules that was diagnosed to be Linear Verrucous Epidermal Nevus. Apart from the intracardiac mass, most likely rhabdomyoma, MRI Brain also showed presence of tubers and the Next Generation Sequence Analysis confirmed the diagnosis of Neonatal Tuberous Sclerosis. The neonate remained asymptomatic and was discharged home and remains under close follow up without any symptoms. It is thus suggested that Linear Verrucous Epidermal Nevus, a cutaneous manifestation not described with Tuberous Sclerosis could be considered under the ever-expanding cutaneous signs of Tuberous Sclerosis and should alert the physician toward its possibility.
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