皮肤科学通报2024,Vol.41Issue(2) :217-219.

IL-36RN基因突变的儿童泛发性脓疱型银屑病1例

Mutation Analysis of IL-36RN Gene in a Child with Gen-eralized Pustular Psoriasis:A Case Report

张芳芳
皮肤科学通报2024,Vol.41Issue(2) :217-219.

IL-36RN基因突变的儿童泛发性脓疱型银屑病1例

Mutation Analysis of IL-36RN Gene in a Child with Gen-eralized Pustular Psoriasis:A Case Report

张芳芳1
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作者信息

  • 1. 大连市妇女儿童医疗中心(集团)皮肤科,辽宁大连 116037
  • 折叠

摘要

患儿女,1岁10个月,出生20 d后全身反复出现大片环形红斑、脓疱,伴有反复发热,热峰39℃.皮肤科情况:周身可见弥漫环形红斑,红斑基础上可见针尖大小表浅脓疱,局部干燥脱屑,对称分布.全外显子基因测序结果显示:患儿IL36RN基因有1个纯合突变,c.115+6T>C纯合突变,c.115+6T>C(splicing)受检人父亲该位点杂合变异,受检人母亲该位点杂合变异.诊断:泛发性脓疱型银屑病.IL36RN基因纯合突变可能是该例患儿发生泛发性脓疱型银屑病的原因.给予益赛普治疗患儿,能有效地控制病情.

Abstract

A 1-year-old female child presented with recurrent diffuse desquamative red macules all over the body.The patient had repeated fever,which peaked at 39 ℃.Physical examination showed generalized erythema with pustules of needle size visible on the whole body.Whole genome sequencing showed mutation in the interleukin(IL)-36RN gene.The patient was diagnosed with generalized pustular psoriasis.The mutation may be responsible for generalized pustular psoriasis in this child.Yisaipu can effectively control the disease.

关键词

泛发性脓疱型银屑病/IL-36RN/重组人Ⅱ型肿瘤坏死因子受体-抗体融合蛋白

Key words

Generalized pustular psoriasis/IL-36RN/rh TNFR:Fc

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出版年

2024
皮肤科学通报
西安交通大学

皮肤科学通报

CSTPCD
影响因子:0.273
ISSN:1001-8077
参考文献量1
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