Abstract
The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993–2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males. The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4–10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.
Highlights
Incontinentia pigmenti (IP [MIM 308300], BlochSulzberger syndrome, ORPHA464) is a rare X-linked genodermatosis with estimated prevalence 0.2/100,000 [1] in which changes of skin and skin appendages are usually combined with anomalies of other organs: teeth, eyes, and central nervous system (CNS) [2]
Analyzed studies covered the pan-ethnic IP patients’ populations in Europe, Asia, Africa, Australia, North America, and South America. These references are listed separately
Most (61.98%) of IP patients with CNS findings suffered from severe CNS anomalies
Summary
Incontinentia pigmenti (IP [MIM 308300], BlochSulzberger syndrome, ORPHA464) is a rare X-linked genodermatosis with estimated prevalence 0.2/100,000 [1] in which changes of skin and skin appendages are usually combined with anomalies of other organs: teeth, eyes, and central nervous system (CNS) [2]. Mutations of the IKBKG (inhibitor of kappa B kinase gamma, previously NEMO) gene, localized on the X-chromosome, locus Xq28, are responsible for IP [5]. IP results from enhanced apoptosis due to mutations in the IKBKG gene [3]. The phenotypic variability of IKBKG mutation expression [5,11] is likely to be the result of skewed X-chromosome inactivation and due to the pleiotropic role of the IKBKG gene product [10,12,13].
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