neurocutaneous melanocytosis
Findings
No curated finding names neurocutaneous melanocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.
Definition from the Mondo Disease Ontology (MONDO:0009578), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
45 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.
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- Generalized hyperpigmentationHPOHP:0007440
- Very frequent (80% to 99% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Very frequent (80% to 99% of cases)
- Increased intracranial pressureHPOHP:0002516
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Where it sits
Other names
3 names
Resolves to: neurocutaneous melanocytosis
- Also called
- NCMneurocutaneous melanosisneurocutaneous melanosis, somatic