非典型可变性红斑角化症1例的临床与遗传学分析

doi:10.12372/jcp.2025.25e0116

摘要/Abstract

摘要：

目的总结1例因GJB3基因变异导致的非典型可变性红斑角化症（EKV）患儿的临床表现和基因检测结果，为临床医师提供参考。方法收集1例就诊于本院皮肤科的EKV患儿的临床资料，采集患儿及其父母外周血DNA，应用二代靶向富集测序鉴定致病变异，并用Sanger测序验证。结果患儿，男，16岁，因“全身干燥，面部红斑和躯干四肢角化过度性斑块16年”就诊于本院皮肤科。查体发现患儿面部瘙痒性红斑和全身角化过度，通过二代靶向富集测序和Sanger测序发现患儿GJB3基因的杂合错义突变c.256T>A(p.C86S)，患儿父母未检出该变异。根据临床表现及基因检测结果，患儿最终被诊断为EKV。结论本研究报道了1例与GJB3基因致病变异相关的皮损表现特殊的EKV，有助于提高皮肤科医师对该病的临床认知。

关键词: 可变性红斑角化症, GJB3, 杂合错义突变, 儿童

Abstract:

Objective To summarize the clinical manifestations and gene detection results of a child with atypical erythrokeratodermia variabilis (EKV) caused by GJB3 gene variation, and provide reference for clinicians. Methods The clinical data of a child with EKV who was admitted to the Dermatology Department of our hospital were collected. The peripheral blood DNA of the child and his parents was collected, and the pathogenic variation was identified by second-generation targeted enrichment sequencing, and verified by Sanger sequencing. Results The patient, a 16-year-old boy, visited the hospital due to "generalized dryness, facial erythema and hyperkeratotic plaques on the trunk and limbs for 16 years". Physical examination revealed pruritic erythema on the face and generalized hyperkeratosis. Through next-generation targeted enrichment sequencing and Sanger sequencing, a heterozygous missense mutation of c.256T>A (p.C86S) in the GJB3 gene was identified in the patient. The mutation was not detected in the patient's parents. Based on the clinical manifestations and genetic testing results, the patient was ultimately diagnosed with EKV. Conclusions This study reports a case of EKV with special skin lesions caused by pathogenic variants in the GJB3 gene, which is helpful for improving the clinical cognition of dermatologists on this disease.

Key words: erythrokeratodermia variabilis, GJB3, heterozygous missense mutation, child

中图分类号:

马毓芝, 姚志荣, 张佳. 非典型可变性红斑角化症1例的临床与遗传学分析[J]. 临床儿科杂志, 2025, 43(6): 470-474.

MA Yuzhi, YAO Zhirong, ZHANG Jia. Clinical and genetic analysis of atypical erythrokeratodermia variabilis: a case report[J]. Journal of Clinical Pediatrics, 2025, 43(6): 470-474.

图/表 2

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