title: Incontinentia pigmenti in a newborn with NEMO mutation.
abstract: 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.
authors.affiliation: Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea.
authors.forename: Young
authors.initials: Y
authors.lastname: Lee
authors.forename: Sooyeon
authors.initials: S
authors.lastname: Kim
authors.forename: Kyunghee
authors.initials: K
authors.lastname: Kim
authors.forename: Meayoung
authors.initials: M
authors.lastname: Chang
mesh_terms: D044466:Asian People; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D009154:Mutation; D012867:Skin / Q000473:pathology
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase