Systematic review of central nervous system anomalies in incontinentia pigmenti
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TLDR
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.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.read more
Citations
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Journal ArticleDOI
Incontinentia pigmenti diagnostic criteria update
TL;DR: In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account and proposed as major criteria one of the stages of IP skin lesions.
Book ChapterDOI
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
TL;DR: Study of mouse models in which various components of the NF-κB pathway (including NEMO) have been knocked out has contributed significantly to the understanding of disease pathogenesis.
Journal ArticleDOI
Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
Matilde Immacolata Conte,Alessandra Pescatore,Mariateresa Paciolla,Elio Esposito,Maria Giuseppina Miano,Maria Brigida Lioi,Maeve A. McAleer,Giuliana Giardino,Claudio Pignata,Alan D. Irvine,Alan D. Irvine,Angela E. Scheuerle,Ghislaine Royer,Smail Hadj-Rabia,Christine Bodemer,Jean-Paul Bonnefont,Arnold Munnich,Asma Smahi,Julie Steffann,Francesca Fusco,Matilde Valeria Ursini +20 more
TL;DR: 21 point mutations previously unreported are presented, which further extend the spectrum of pathologic variants and review how the analysis of IP‐associated IKBKG/NEMO hypomorphic mutants has contributed to the understanding of the pathophysiological mechanism of IP disease.
Journal ArticleDOI
Mosaic Neurocutaneous Disorders and Their Causes
TL;DR: The molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades.
Journal ArticleDOI
Incontinentia pigmenti: report on data from 2000 to 2013.
Francesca Fusco,Mariateresa Paciolla,Matilde Immacolata Conte,Alessandra Pescatore,Elio Esposito,Peppino Mirabelli,Maria Brigida Lioi,Matilde Valeria Ursini +7 more
TL;DR: The building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity at the centre of expertise is reported on.
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