色素失禁症1例临床特征及基因分析

摘要

目的：探讨色素失禁症患儿的临床特征及核因子-κB要素调素（NEMO）基因缺失突变。方法回顾性分析1例IP患儿的临床表现，采用长链PCR扩增方法检测NEMO基因和假基因ΔNEMO的缺失突变。结果患儿有典型的皮肤损害，组织病理检查可见灶性海绵水肿，其中部及周围散在或聚集嗜酸性粒细胞；患儿NEMO基因和假基因ΔNEMO共有序列NEMOΔ4-10皆有缺失。结论色素失禁症是一种少见的X染色体连锁显性遗传性疾病，具有典型的临床表现及病理改变，NEMO基因缺失突变。%Objective To explore the clinical manifestations and the deletion mutation in NEMO gene in incontinentia pigmenti. Methods The clinical manifestations of one neonatal infant were analyzed. By long PCR ampliifcation, the deletion mutations in NEMO gene and pseudogene ΔNEMO were detected. Results The clinical manifestations were typical skin lesions. Histopathological examination showed focal edema sponge and gathered or scattered eosinophilic granulocytes. The deletion of exons 4-10 in both NEMO andΔNEMO genes were detected in the patient. Conclusions Incontinentia pigmenti is a rare X chromosome linked dominant genetic disease. It has typical clinical manifestations and pathological changes, and deletion mutation in NEMO gene.