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552 临床皮肤科杂志2025年54卷第9期JClin Dermatol,September 2025,Vol.54,No.9新生儿色素失禁症张丽，汪瑜，曾军安，郭金珍，李占魁西北妇女儿童医院新生儿科，陕西西安　710061[摘要］报告1例新生儿色素失禁症。秃发、斑疹及水疱1d。皮肤科检查：头顶部片状秃发,头皮、躯干及四肢广泛分布淡红色斑疹、水疱、大疱，部分水疱干及结痴；四肢皮肤可见不规则浅褐色色素沉着，部分融合成片。IKBKG基因突变检测示：在IKBKG基因的4~10号外显子区域存在杂合缺失变异。诊断：新生儿色素失禁症。[关键词]］色素失禁症,新生儿；基因检测；IKBKG[中图分类号] R758.5doi : 10.16761/j.cnki.1000-4963.2025.09.011A case of neonatal incontinentia pigmentiZHANG Li, WANG Yu, ZENG Junan, GUO Jinzhen,LI ZhankuiDepartment of Neonatology, Northwest Women's and Children's Hospital, Xi'an 710061, China[Abstract] A case of neonatal incontinentia pigmenti is reported. The newborn presented with alopecia, erythema and blis-ters for one day. Dermatological examination revealed patchy alopecia on the scalp with pale red macules, blisters, bullae andpustules distributed over the scalp, trunk and limbs. Some blisters had dried and formed scabs. Irregular light brown pigmen-tation can be seen on the skin of the limbs, and some areas fuse into patches. The IKBKG gene mutation detection, it was foundthat there were heterozygous deletion variations in the exon 4-10 regions of the IKBKG gene. The diagnosis was neonatal in-continentia pigmenti.[Key words] incontinentia pigmenti, neonate; genetic testing; IKBKG[文献标识码]A [文章编号]1000-4963(2025)09-0552-03[J Clin Dermatol, 2025, 54(9):552-554]1病历摘要患儿女，出生后1d。发现秃发、皮肤散在斑疹及水疱1d，于2022年7月17日外院来我科就诊。患儿出生时全身皮肤薄嫩，胎脂多，擦拭后可见头顶部片状秃发,全身皮肤散在黄豆到花生米大水疱，部分破溃，予皮肤护理，建议家属转上级医院进一步诊治，遂于生后1d由出生医院转人我科治疗。个人史：患儿为G2P1,胎龄34+5周，因母亲重度子痫前期在当地医院剖宫产娩出，生后无室息，Apgar评分9~10分，出生体重2500g。家族史：母亲出生时出现与患儿相似皮损，父亲无类似疾病。体格检查：神志清，反应可，心、肺、腹正常，肌张力可，原始反射可引出。收稿日期：2022-12-13；修回日期：2023-06-01通信作者：曾军安,Email:389254822@qq.com皮肤科检查：头顶部可见片状秃发(图1A)；头皮、躯干及四肢散在淡红色斑疹，部分红斑上出现大小不等的水疱,疱壁薄,其内可见黄色液体,皮损表面可见黄色痴皮及鳞屑,四肢皮肤可见不规则浅褐色色素沉着,部分融合成片(图1B、C)。实验室及辅助检查：血、尿、粪常规均正常;肝肾功能,电解质、心肌酶均正常；血培养、自身免疫抗体阴性；眼底检查：双眼视网膜未完全血管化;IKBKG基因突变检测,其中SNV检测结果：Sanger测序提示基因未见已知或可能具有临床意义的基因变异(SNVs、Indels);CNV检测结果：在IKBKG基因的4-10号外显子区域存在杂合缺失变异（图2）。诊断：新生儿色素失禁症。治疗：入院后予合理喂养、预防皮肤感染、加强皮肤护理等对症治疗；纠正胎龄4个月随访，患儿皮肤未再出现斑疹,逐渐结痴,形成色素沉着。随访及转归：患儿纠正胎龄4个月，皮肤改变主