关键词: 色素失禁症, 眼睛, 神经系统, 基因

Abstract: To summarize the manifestations of incontinentia pigmenti，especially the characteristics in skin,nerve system,eyes and gene mutations. MethodsFifteen cases of incontinentia pigmenti in our hospital from 1994 to 2004 were enrolled in this study.Their clinical characteristics were studied in several aspects,and some of the cases were followed up for several years.The genes of 7 cases were analyzed in this study. ResultsThe dermatological manifestations were present in all the 15 cases of incontinentia pigmenti.Ten cases had neurological involvement.Of the 10 cases whose nerve system involved,5 suffered from epilepsy,2 of them were complicated with hydrocephalus and dead in infant,and 6 of the 10 cases had mental retardation.There were 6 of 15 cases present with different eye defects:2 with optic nerve atrophy,1 with congenital cataract,1 with retinal dystrophy,and 2 with strabismus.5 of the 7 studied cases had NEMOΔ4~10 gene segment deletion in their NEMO gene. ConclusionThe dermatological manifestations are prominent in incontinentia pigmenti,and the involvement in nerve system and eyes is severe.It should be diagnosed and managed properly soon after birth.

Key words: Nerve systemGene , Eyes