CAJ | 학술논문

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。
목적：탐토색소실금증환인적림상특정급핵인자-κB요소조소（NEMO）기인결실돌변。방법회고성분석1례IP환인적림상표현，채용장련PCR확증방법검측NEMO기인화가기인ΔNEMO적결실돌변。결과환인유전형적피부손해，조직병리검사가견조성해면수종，기중부급주위산재혹취집기산성립세포；환인NEMO기인화가기인ΔNEMO공유서렬NEMOΔ4-10개유결실。결론색소실금증시일충소견적X염색체련쇄현성유전성질병，구유전형적림상표현급병리개변，NEMO기인결실돌변。
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.