SynthesisOrphanet journal of rare diseases2013
Systematic review of central nervous system anomalies in incontinentia pigmenti.
Synthesis in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 108 citations in OpenAlex.
- Consensus Guidance for Screening, Classification, and Treatment of Retinopathy Associated with Incontinentia Pigmenti.Ophthalmology science · 2026Article
- A case of Incontinentia Pigmenti associated with concurrentFrontiers in medicine · 2026Article
- A Fulminant Case of Incontinentia Pigmenti Presenting With Early Neuro-Ophthalmologic Manifestations.Cureus · 2025Article
- Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.Orphanet journal of rare diseases · 2024Article
- Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.BMC neuroscience · 2024Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- Case Report: Diagnosis and treatment ofFrontiers in pediatrics · 2024Article
- Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with anTurkish journal of ophthalmology · 2023Article
- Oral Rehabilitation as Part of a Multidisciplinary Treatment in a Case Study of Pigmentary Incontinence.Children (Basel, Switzerland) · 2023Article
- RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.Clinical case reports · 2023Article
- The Impact of theDiagnostics (Basel, Switzerland) · 2023Article
- Avascular Peripheral Retina in Infants.Turkish journal of ophthalmology · 2023Review
- The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti.Ophthalmology. Retina · 2022Article
- Structural and functional characterization of NEMO cleavage by SARS-CoV-2 3CLpro.Nature communications · 2022Article
- Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with HeterozygousDiagnostics (Basel, Switzerland) · 2022Article
- Dermoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions.Dermatology practical & conceptual · 2022Article
- Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.International journal of molecular sciences · 2022Review
- Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology.Frontiers in pediatrics · 2022Review
- Structural and functional characterization of NEMO cleavage by SARS-CoV-2 3CLpro.bioRxiv : the preprint server for biology · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.