Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea.
J Korean Med Sci. 2011 Feb;26(2):308-11. doi: 10.3346/jkms.2011.26.2.308. Epub 2011 Jan 24.
Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.
遗传性皮肤病（IP）（OMIM #308300）是一种罕见的 X 连锁显性神经外胚层多系统综合征，由 NF-κB 必需调节剂（NEMO）基因突变引起。一名足月新生儿出生时即出现红斑水疱性皮疹，在生命的第一和第二周内反复发作癫痫。连续的 MRI 显示弥漫性、进行性脑梗死和随后的脑软化以及脑萎缩。皮肤活检发现符合 IP 的水疱期。基因分析显示 NEMO 基因外显子 4-10 缺失与 IP 相关。我们在此报告一例经 NEMO 基因突变分析确诊的韩国女性婴儿 IP 病例。
