儿童色素失禁症临床特点研究

To study the clinical character of incontinetia pigmenti in children

目的总结色素失禁症的临床特点。方法报告以癫痫持续状态为首发的色素失禁症1例,并复习文献明确诊断的67例,共68例进行临床研究。结果68例色素失禁症患儿均有皮肤损害,其余损害发生率排列顺序分别为牙齿、神经系统、头发、眼部及指甲。皮肤损害均在出生后6个月内发病,90%均在新生儿期发病,神经系统发病较严重,其中以癫痫发作多见,严重者可致死亡。结论色素失禁症均有皮肤损害,神经系统损害较重,分子生物学诊断提高诊断准确率。

Objective ： To summarize the clinical manifestations of incontinentia pigmenti in children. Methods ： 68 cases of incontinentia pigmenti were enrolled in this study. Results： Dermatological manifestations were present all 68 patients, which 61 cases with as early as the neonatal period, and 7 cases with the age of 6 months. Seizures were the prominent feature with clinical neurologcai involvement. The other affected systems were eyes, teeth, hair , as well as nails. Conclusions： The skin manifestations are prominent in ineontinentia pigmenti, and involvement in nerve system is severe. Molecular analysis of the gentle in incontinentia pigmenti can improve its diagnosis.