中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (8): 584-585.doi: 10.12144/zgmfskin202608584

• 临床研究 • 上一篇    下一篇

色素失禁症伴癫痫一例

陶英迪1,肖政2,高健3   

  1. 1山东第二医科大学临床医学院，山东潍坊，261042；2寿光市中医医院，山东潍坊，262700；3 潍坊市妇幼保健院，山东潍坊，261021
  • 出版日期:2026-08-15 发布日期:2026-08-03

Incontinentia pigmenti accompanied by epilepsy: a case report

TAO Yingdi1, XIAO Zheng2, GAO Jian3   

  1. 1 School of Clinical Medicine, Shandong Second Medical University, Weifang 261042, China; 2 Shouguang City Hospital of Traditional Chinese Medicine, Weifang 262700, China; 3 Weifang Maternal and Child Health Hospital, Weifang 261021, China
  • Online:2026-08-15 Published:2026-08-03

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摘要： 患儿，女，2个月9天，出生后第2天出现红斑、水疱，逐渐演变为疣状增生及色素沉着。1天前出现反复抽搐。颅脑MRI示双侧大脑、小脑半球弥漫小斑片状DWI高信号，脑电图示多灶性癫痫样放电。全外显子组基因检测发现IKBKG基因存在新发移码突变［c.1102_1109dup(p.Ala371CysfsTer83)］，诊断为色素失禁症、癫痫。本病例进一步扩大了色素失禁症IKBKG基因的突变谱。

关键词: 色素失禁症, IKBKG基因, 癫痫

Abstract: A 2-month-9-day-old female infant developed erythema and blisters on the second day after birth, which gradually progressed to verrucous hyperplasia and pigmentation. Recurrent convulsions presented one day prior to admission.Cranial MRI showed diffuse small patchy hyperintensities on DWI in bilateral cerebral and cerebellar hemispheres.Electroencephalography revealed multifocal epileptiform discharges.Whole-exome sequencing identified a de novo frameshift mutation in the IKBKG gene: c.1102_1109dup (p.Ala371CysfsTer83). The patient was diagnosed with incontinentia pigmenti complicated by epilepsy. This study further expands the mutation spectrum of IKBKG gene in incontinentia pigmenti.

Key words: incontinentia pigmenti, IKBKG gene, epilepsy