FILS综合征合并湿疹样皮炎  

FILS syndrome with eczematous dermatitis:a case report

作　　者：赵梦曦 任佳雨 董磊 张建中[1] ZHAO Mengxi;REN Jiayu;DONG Lei;ZHANG Jianzhong(Department of Dermatology,Peking University People's Hospital,Beijing 100044,China;Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou 450007,China)

机构地区：[1]北京大学人民医院皮肤科,北京100044 [2]郑州大学附属郑州中心医院皮肤科,河南郑州450007

出　　处：《临床皮肤科杂志》2023年第10期600-602,共3页Journal of Clinical Dermatology

摘　　要：报告1例FILS综合征合并湿疹样皮炎。患儿男,5岁。体格检查:患儿身材矮小,体型匀称,大头畸形。皮肤科检查:面部皮肤异色,双手红斑、丘疹伴瘙痒。实验室检查:外周血嗜酸性粒细胞和血清总免疫球蛋白(Ig)E均升高。基因检测示POLE基因杂合突变。诊断:FILS综合征合并湿疹样皮炎。A case of FILS syndrome with eczematous dermatitis is reported.A 5-year-old boy presented with short stature,macrocephaly,facial poikiloderma and hand eczema.Laboratory analysis revealed elevated levels of peripheral blood eosinophil count and total serum IgE.Compound heterozygous variants in POLE gene were found.He was diagnosed with FILS syndrome associated with eczematous dermatitis.

关 键 词：FILS综合征 湿疹样皮炎 儿童 

分 类 号：R758.6[医药卫生—皮肤病学与性病学]