先天性鱼鳞病样皮肤病变IPEX 1例报告并文献复习

IPEX with congenital ichthyosiform skin lesions: a case report and literature review

目的探讨X-连锁多内分泌腺病肠病伴免疫失调综合征(IPEX)的临床表型、治疗及预后。方法回顾分析1例以先天性鱼鳞病样皮肤病变起病的IPEX患儿临床资料,并复习相关文献。结果患儿,男,2个月11天,因鱼鳞样皮疹伴头部渗血、双足渗液就诊,合并重症感染及消化道穿孔,最终死于多器官功能障碍综合征。住院期间行全基因组外显子DNA检测,结果示FOXP3基因11号外显子c.1150G>A,p.A384>T半合子突变,其母亲为携带者,父亲无异常。结论早发顽固性腹泻、多发内分泌病及生长落后临床表型的婴儿需警惕IPEX,小婴儿出现鱼鳞样皮疹合并严重感染时,亦需排查IPEX,基因测序有助于确诊此病。

Objective To explore the clinical phenotype,treatment and prognosis of immune dysregulation,polyendocrinopathy,enteropathy,X-linked(IPEX)syndrome,and to improve pediatricians'knowledge of this disease.Methods Clinical data of a case of IPEX with congenital ichthyosiform skin lesions were retrospectively analyzed,and relatedliteratures China were reviewed.Results The2-month-11-day old boy came to our hospital due to ichthyosiform skin lesionsaccompanied by blood oozing in the head and feet exudatation,with severe sepsis and gastrointestinal perforation.He was died ofmultiple organ failure.DNA sequencing of whole-genome exon group showed a hemizygous mutation of c.1150G>A,p.A384>Tin FOXP3gene.His mother was a heterozygous mutation carrier,while his father was normal.Conclusions In addition to typicalsymptoms including early-onset refractory diarrhea,multiple endocrine disease and growth retardation,IPEX should be consideredalso in infants with ichthyosiform rash and severe infection.Gene sequencing will help diagnose the disease.