Incontinentia Pigmenti in a Newborn with NEMO Mutation.
10.3346/jkms.2011.26.2.308
- Author:
Young LEE
1
;
Sooyeon KIM
;
Kyunghee KIM
;
Meayoung CHANG
Author Information
1. Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea.
- Publication Type:Case Report
- Keywords:
Incontinentia Pigmenti;
NEMO Protein;
Brain Infarction;
Seizures;
Infant, Newborn
- MeSH:
Asian Continental Ancestry Group;
Brain/pathology;
DNA Mutational Analysis;
Female;
Humans;
I-kappa B Kinase/*genetics;
Incontinentia Pigmenti/*genetics/pathology;
Infant, Newborn;
*Mutation;
Skin/pathology
- From:Journal of Korean Medical Science
2011;26(2):308-311
- CountryRepublic of Korea
- Language:English
-
Abstract:
Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappaB 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.
