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Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
Features include: Epicanthus, Microcephaly, Brain shrinkage (cerebral atrophy), and Strabismus and 18 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 4 | Microcephaly, Coarse facial features, Thick lower lip vermilion |
Brain and nerves |
Biomarker and diagnostic research for Ito hypomelanosis has been reported in the published literature.
No clinical trials have been registered for Ito hypomelanosis.
19 publications have been identified in PubMed for Ito hypomelanosis. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (26%), and Review / Meta-Analysis (21%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 32% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Ito hypomelanosis
3 |
Brain shrinkage (cerebral atrophy), Seizure, Intellectual disability |
Eyes | 3 | Strabismus, Macular hypopigmented whorls, streaks, and patches, Cataract |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis) |
Arms and legs | 2 | Hand polydactyly, Radial deviation of finger |
Muscles | 1 | Brain shrinkage (cerebral atrophy) |
Skin | 1 | Alopecia |
5 |
26% |
Research summaries | 4 | 21% |
Disease patterns and progression | 3 | 16% |
Testing and diagnosis research | 1 | 5% |
El Chammas D (2026). [PMID: 41493214](https://pubmed.ncbi.nlm.nih.gov/41493214/). *Annals of neurology*. [Case Report / Case Series]
Syed HA (2026). [PMID: 30855856](https://pubmed.ncbi.nlm.nih.gov/30855856/). *Unknown Journal*. [Review / Meta-Analysis]
Swain B (2026). [PMID: 41630706](https://pubmed.ncbi.nlm.nih.gov/41630706/). *JAAD case reports*. [Epidemiology / Natural History]
Bonniaud B (2025). [PMID: 40127731](https://pubmed.ncbi.nlm.nih.gov/40127731/). *European journal of medical genetics*. [Review / Meta-Analysis]
Abdel-Hamied E (2025). [PMID: 40957124](https://pubmed.ncbi.nlm.nih.gov/40957124/). *Veterinary immunology and immunopathology*. [Basic Science / Preclinical]
Alassouli YM (2025). [PMID: 41426779](https://pubmed.ncbi.nlm.nih.gov/41426779/). *Cureus*. [Case Report / Case Series]
Pavone P (2025). [PMID: 40320849](https://pubmed.ncbi.nlm.nih.gov/40320849/). *Journal of child neurology*. [Review / Meta-Analysis]
Pavone P (2025). [PMID: 41462762](https://pubmed.ncbi.nlm.nih.gov/41462762/). *Children (Basel, Switzerland)*. [Diagnostic / Biomarker]
Steiner CE (2025). [PMID: 40428344](https://pubmed.ncbi.nlm.nih.gov/40428344/). *Genes*. [Epidemiology / Natural History]
Hernández-Castañeda Y (2025). [PMID: 40273417](https://pubmed.ncbi.nlm.nih.gov/40273417/). *Revista medica del Instituto Mexicano del Seguro Social*. [Basic Science / Preclinical]