Neurocutaneous melanocytosis
Synonyms: NCM · Neurocutaneous melanosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurocutaneous melanocytosis | NCM · Neurocutaneous melanosis |
| fr | Mélanocytose neurocutanée | Mélanose neurocutanée · NCM |
| de | Melanozytose, neurokutane | Melanose, neurokutane · NCM |
| es | Melanocitosis neurocutánea | Melanosis neurocutánea · NCM |
| it | Melanocitosi neurocutanea | Melanosi neurocutanea · NCM |
| nl | Neurocutane melanocytose | NCM · Neurocutane melanose |
| pt | Melanocitose neuro-cutânea | Melanose neuro-cutânea |
| pl | Melanocytoza nerwowo-skórna | Melanoza nerwowo-skórna · NCM |
| cs | Neurokutánní melanocytóza | NCM · Neurokutánní melanóza |
| uk | Нейрошкірний меланоцитоз | NCM · Нейрошкірний меланоз |
| zh | 神经皮肤黑素细胞增多症 | 神经皮肤黑素细胞增多症 |
| tr | Nörokutanöz melanositoz | NCM · Nörokutanöz melanoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249400 | E | validated | |
| ICD-10 | D22.3 | BTNT | attributed | validated |
| ICD-10 | D22.4 | BTNT | attributed | validated |
| ICD-10 | D22.5 | BTNT | attributed | validated |
| ICD-10 | D22.6 | BTNT | attributed | validated |
| ICD-10 | D22.7 | BTNT | attributed | validated |
| ICD-11 | 2F20.20 | NTBT | index | validated |
| MONDO | 0009578 | E | validated | |
| MeSH | C537387 | E | validated | |
| UMLS | C0544862 | E | validated | |
| GARD | 7186 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.25 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
46 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002230 | Generalized hirsutism | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001249 | Intellectual disability | |
| HP:0000995 | Melanocytic nevus | |
| HP:0005603 | Numerous congenital melanocytic nevi | |
| HP:0001250 | Seizure | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0001085 | Papilledema | |
| Occasional (29-5%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002381 | Aphasia | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000708 | Atypical behavior | |
| HP:0000603 | Central scotoma | |
| HP:0002308 | Chiari malformation | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001522 | Death in infancy | |
| HP:0002015 | Dysphagia | |
| HP:0002353 | EEG abnormality | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0002315 | Headache | |
| HP:0001269 | Hemiparesis | |
| HP:0011972 | Hypoglycorrhachia | |
| HP:0002383 | Infectious encephalitis | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0000737 | Irritability | |
| HP:0002861 | Melanoma | |
| HP:0002435 | Meningocele | |
| HP:0001268 | Mental deterioration | |
| HP:0002664 | Neoplasm | |
| HP:0000648 | Optic atrophy | |
| HP:0000709 | Psychosis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0012470 | Setting-sun eye phenomenon | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0002176 | Spinal cord compression | |
| HP:0003396 | Syringomyelia | |
| HP:0004936 | Venous thrombosis | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0000989 | Pruritus | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 23622187[PMID]_26458618[PMID]_30007971[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2481
- This record as JSON: /data/d/2481.json