中国斜视与小儿眼科杂志2025，Vol.33Issue(2)：1-5,后插6,6.DOI:10.3969/J.ISSN.1005-328X.2025.02.001
儿童线状皮脂腺痣综合征的眼部及全身特征分析
Ocular and systemic features of linear nevus sebaceous syndrome in children
李偲圆 1蔺琪 1张楠 2刘雯 1张军燕 1施维 1李莉1
作者信息
- 1. 100045 国家儿童医学中心首都医科大学附属北京儿童医院眼科
- 2. 100045 国家儿童医学中心首都医科大学附属北京儿童医院病理科
- 折叠
摘要
Abstract
Objective To systematically articulate the ocular and systemic clinical characteristics of linear nevus sebaceous syndrome(LNSS)in pediatric patients,while offering substantiated evidence to enhance ophthalmic diagnosis,treatment strategies,and multidisciplinary management.Methods This study involves a retrospective observational case series investigation.This retrospective analysis systematically reviewed the clinical records of twelve pediatric patients(sev-enteen affected eyes)diagnosed with LNSS who presented to our tertiary care institution between February 2016 and December 2024.Comprehensive multimodal diagnostic evaluations were conducted through ophthalmic ultrasound biomicros-copy,color doppler ultrasonography,cranial and orbital magnetic resonance imaging,neurologic assessment,molecular genetic analysis,and histopathological examination.The multidisciplinary findings were integrated to elucidate both ocular-specific manifestations and associated systemic pathophysiological alterations in this rare clinical entity.Results A total of twelve children diagnosed with LNSS were included in this study,comprising six males(50％)with a mean age of 1.63±1.59 years.All children exhibited typical craniofacial nevus sebaceus,with 58.3％presenting during infancy.Ocular mani-festations were predominantly corneal and conjunctival choristomas(100％),with 64.7％involving the pupillary area and 41.2％classified as tertiary dermoid tumors.Additionally,58.8％were associated with eyelid abnormalities,and 29.4％with choroidal bony choristomas.Among the systemic abnormalities identified,imaging abnormalities of the central nervous system,including ventricular widening and arachnoid cysts,accounted for 100％,with 50％associated with congenital heart disease,25％presenting with developmental delays,and 16.7％experiencing seizures.Genetic testing revealed two cases that were found to carry KRAS somatic chimeric mutations.Conclusion This study represents the most extensive sample of infants diagnosed with LNSS in China,illustrating its intricate clinical phenotypic characteristics.It recommends the surgical approach of"eyelid repair first-personalized corneal transplantation"and clarifies the imaging features of LNSS fundus bony choristomas,thereby establis-hing a vital foundation for clinical diagnosis,treatment,and long-term management.关键词
线状皮脂腺痣综合征/角膜迷芽瘤/结膜迷芽瘤/脉络膜迷芽瘤/眼睑异常Key words
Linear sebaceous nevus syndrome/Corneal choristomas/Conjunctival choristomas/Choroidal choristo-mas/Eyelid abnormality引用本文复制引用
李偲圆,蔺琪,张楠,刘雯,张军燕,施维,李莉..儿童线状皮脂腺痣综合征的眼部及全身特征分析[J].中国斜视与小儿眼科杂志,2025,33(2):1-5,后插6,6.
