Systematic review of central nervous system anomalies in incontinentia pigmenti

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.

The Skin and Neurologic Disease

“…Structural abnormalities detectable by brain scanning include focal atrophy, infarcts and lesions of the corpus callosum. 90 Classic Bloch-Sulzberger disease, as described above, had previously been called incontinentia pigmenti type II (IP2), IP1 being a term erroneously assigned by earlier investigators to some cases of hypomelanosis of Ito (OMIM 300337), which does not represent a distinct entity but is rather a manifestation of many different states of mosaicism. The hypopigmented skin lesions in hypomelanosis have been described as the "negative pattern" of the hyperpigmented lesions of incontinentia pigmenti.…”

Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management

“…The occurrence of IP is estimated at about 1,393 female cases in the period 1993-2012 (Minic, Trpinac, & Obradovic, 2013). The gene responsible for IP, IKBKG (Inhibitor of Kappa light polypeptide gene enhancer in B-cells, Kinase Gamma)/NEMO (NF-kappa-B Essential MOdulator) is located in the Xq28 region where it is oriented in the opposite direction and overlaps with the Glucose-6-Phosphate dehydrogenase (G6PD) gene (Franzè et al, 1998;Fusco, Mercadante, Miano, & Ursini, 2006).…”

“…Other clinical features: dental anomalies, ocular anomalies, CNS anomalies, alopecia and abnormal hair, abnormal nails, palate anomalies, nipple and breast anomalies, multiple male miscarriages, as well as typical skin pathohistological findings are classified as minor IP criteria (Minic et al, 2014). Central Nervous System (CNS) anomalies have been identified in 30.44% of IP patients examined Minic et al, 2013). The most frequently recorded CNS lesions found by using brain imaging methods have been brain infarction or necrosis, brain atrophies, and corpus callosum lesions (Minic et al, 2013).…”

“…Central Nervous System (CNS) anomalies have been identified in 30.44% of IP patients examined Minic et al, 2013). The most frequently recorded CNS lesions found by using brain imaging methods have been brain infarction or necrosis, brain atrophies, and corpus callosum lesions (Minic et al, 2013). Although it seems clear that IP results from an enhanced apoptosis due to mutations in the IKBKG/NEMO gene, the pathogenesis of the CNS lesions in IP is still a controversial issue.…”

“…The CNS lesions may share a common pathophysiological state with the vascular occlusive disease seen in the retinas of IP patients. However, brain imaging and pathoanatomical studies have failed to show any relationship between the brain abnormalities and vascular patterns (Minic et al, 2013). Hennel, Ekert, Volpe, and Inder (2003) have suggested that small-vessel occlusion is the primary cause of this condition and that the inflammatory processes are a secondary cause.…”