epidermal nevus syndrome
Findings
No curated finding names epidermal nevus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0018115), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- NevusHPOHP:0003764
- Very frequent (80% to 99% of cases)
- Atrophy of the spinal cordHPOHP:0006827
- Frequent (30% to 79% of cases)
- Hyperpigmentation of the skinHPOHP:0000953
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Frequent (30% to 79% of cases)
- PainHPOHP:0012531
- Frequent (30% to 79% of cases)
- Progressive spastic paraparesisHPOHP:0007199
- Frequent (30% to 79% of cases)
- Spinal canal stenosisHPOHP:0003416
- Frequent (30% to 79% of cases)
- Spinal cord compressionHPOHP:0002176
- Frequent (30% to 79% of cases)
- Abnormal brain morphologyHPOHP:0012443
- Occasional (5% to 29% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- AstigmatismHPOHP:0000483
- Occasional (5% to 29% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
Show the remaining 14
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- HypertoniaHPOHP:0001276
- Occasional (5% to 29% of cases)
- LipomaHPOHP:0012032
- Occasional (5% to 29% of cases)
- Spinal cord tumorHPOHP:0010302
- Occasional (5% to 29% of cases)
- Thoracolumbar scoliosisHPOHP:0002944
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: epidermal nevus syndrome
- Also called
- Epidermal hamartoma syndrome