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- Young Lee, Sooyeon Kim, Kyunghee Kim, and Meayoung Chang.
- Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea.
- J. Korean Med. Sci. 2011 Feb 1; 26 (2): 308311308-11.
AbstractIncontinentia 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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