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。
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.
作者
张芳芳
ZHANG Fangfang(Department of Dermatology,Dalian Medical Center for Women and Children,Dalian 116037,China)
出处
《皮肤科学通报》
2024年第2期217-219,共3页
Dermatology Bulletin
