丙种球蛋白治疗Netherton综合征一例并文献复习

Netherton syndrome with gamma globulin treatment:a case report and literature review

4岁2个月龄男性患儿,全身红斑、脱屑伴瘙痒4年余。皮肤镜示:头发呈竹节状改变。血清IgE升高(>1140.0 IU/ml),嗜酸粒细胞百分比升高(35.0%)。基因检测提示患儿SPINK5基因第24号外显子携带c.A2260T(p.K754^(*))和第26号外显子c.2459delA(p.E820fs)复合杂合突变,其中c.A2260T突变遗传自母亲,c.2459delA突变遗传自父亲。诊断:Netherton综合征。治疗:给予丙种球蛋白7.5g静脉注射,每月1次,共3次,治疗期间红斑、鳞屑消退,瘙痒显著改善。随访6个月,停药1个月后皮损有反复,但可自行缓解。

A 4-year-old boy with Netherton syndrome presented with diffuse erythema,scales and pruritis over the body for 4 years.Dermoscopy revealed bamboo-like structures in his hair shaft.Laboratory tests revealed elevated blood IgE levels(>1140.0 IU/ml)and the eosinophil percentage(35.0%).Compound heterozygous mutations c.A2260T(p.K754^(*))in exon 24 and c.2459delA(p.E820fs)in exon 26 of SPINK5 gene were identified in the proband.The c.A2260T mutation was from his mother and c.2459delA mutation was from his father.Diagnosis:Netherton syndrome.The eruptions improved remarkably after intravenous immunoglobulin(IVIG)therapy of 7.5g per month for 3 months.After a follow-up of 6 months,the lesions recurred but were resolved spontaneously.