Research Evidence
Peer-reviewed studies linked via MeSH term "Incontinentia Pigmenti" from the MEDLINE/PubMed database.
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Incontinentia pigmenti diagnostic criteria update.
[object Object], [object Object], [object Object] · Clin Genet · 2014
PMID: 23802866Meta-Analysis
Systematic review of central nervous system anomalies in incontinentia pigmenti.
[object Object], [object Object], [object Object] · Orphanet J Rare Dis · 2013
Dental and oral anomalies in incontinentia pigmenti: a systematic review.
[object Object], [object Object], [object Object] et al. · Clin Oral Investig · 2013
PMID: 22453515Meta-Analysis
Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
[object Object], [object Object], [object Object] et al. · J Child Neurol · 2025
PMID: 40320849Review
Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.
[object Object], [object Object], [object Object] et al. · Pediatr Dermatol · 2022
PMID: 34989033Review
Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2022
Incontinentia pigmenti and the eye.
[object Object], [object Object] · Curr Opin Ophthalmol · 2022
PMID: 35819905Review
Neuroimaging in infants and children in select neurocutaneous disorders.
[object Object], [object Object] · Clin Exp Dermatol · 2021
PMID: 33180972Review
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
[object Object], [object Object], [object Object] et al. · J Eur Acad Dermatol Venereol · 2020
PMID: 32678511Review
Search all PubMed articles for Incontinentia pigmenti syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal hair morphology
Very frequent (80-99%)HP:0001595
Abnormal nail morphology
Very frequent (80-99%)HP:0001597
Abnormal skin colour
Very frequent (80-99%)HP:0001000
Abnormality of the fingernails
Very frequent (80-99%)HP:0001231
Erythema
Very frequent (80-99%)HP:0010783
Hypopigmented skin patches
Very frequent (80-99%)HP:0001053
Irregular hyperpigmentation
Very frequent (80-99%)HP:0007400
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Naevus
Very frequent (80-99%)HP:0003764
Skin bullae
Very frequent (80-99%)HP:0008066
Skin rash
Very frequent (80-99%)HP:0000988
Small fingernail
Very frequent (80-99%)HP:0001804
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Warts
Very frequent (80-99%)HP:0200043
Abnormal shape of hand
Frequent (30-79%)HP:0005922
Abnormality of immune system physiology
Frequent (30-79%)HP:0010978
Accessory nipples
Frequent (30-79%)HP:0002558
Breakdown of bone
Frequent (30-79%)HP:0002797
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased body height
Frequent (30-79%)HP:0004322
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Eosinophilia
Frequent (30-79%)HP:0001880
Finger pointing in a different direction than usual
Frequent (30-79%)HP:0004097
Gait disturbance
Frequent (30-79%)HP:0001288
Hair loss
Frequent (30-79%)HP:0001596
Hearing abnormality
Frequent (30-79%)HP:0000364
Impaired vision
Frequent (30-79%)HP:0000505
Misshapened teeth
Frequent (30-79%)HP:0006482
Open skin sore
Frequent (30-79%)HP:0200042
Quick Facts
- SNOMED CT
- 367520004
- UMLS CUI
- C0021171
- Fully Specified Name
- Incontinentia pigmenti syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.