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KMID : 0191120110260020308
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Journal of Korean Medical Science
2011 Volume.26 No. 2 p.308 ~ p.311
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Incontinentia Pigmenti in a Newborn with NEMO Mutation
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Lee Young
Kim Soo-Yeon
Kim Kyung-Hee
Chang Mea-Young
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Abstract
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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.
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KEYWORD
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Incontinentia Pigmenti, NEMO Protein, Brain Infarction, Seizures, Infant, Newborn
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