Neurocutaneous melanosis
MeSH: C537387ORPHA: 2481
Overview
Congenital disorder involving melanocytic tumours in the skin and brain
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Neurocutaneous melanosis, sourced from HPO and Orphanet clinical annotations.
EEG abnormalityAphasiaInfectious encephalitisMeningoceleNeoplasmMelanomaSyringomyeliaVenous thrombosisCranial nerve paralysisSleep-wake cycle disturbanceAplasia/Hypoplasia of the cerebellumAbnormal retinal pigmentationRenal hypoplasia/aplasiaHypoglycorrhachiaSetting-sun eye phenomenonPruritusMelanocytic nevusThickened skinIntellectual disabilitySeizureGeneralized hirsutismIncreased intracranial pressureIncreased CSF protein concentrationNumerous congenital melanocytic neviGeneralized hyperpigmentationHydrocephalusPapilledemaFunctional abnormality of the bladderVisual impairmentChorioretinal colobomaCentral scotomaOptic atrophyAtypical behaviorPsychosisIrritabilityMental deteriorationHemiparesisDandy-Walker malformationDysphagiaVentriculomegalyIntracranial hemorrhageSpinal cord compressionAbnormality of neuronal migrationChiari malformationHeadache
Classification & Codes
MeSH Code
C537387Orphanet Code
ORPHA:2481Neurocutaneous melanosis
| MeSH | C537387 |
| Orphanet | ORPHA:2481 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO