Melanosis, neurocutaneous

Preferred Label : Melanosis, neurocutaneous;

Symbol : NCMS;

CISMeF acronym : NCMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEUROMELANOSIS;

Description : This rare condition, associated skin and meningeal pigmentation, is potentially highly malignant. Death usually occurs in early childhood. No certain evidence of a mendelian basis has been found. The condition is thought to be a congenital dysplasia of the neural crest. Ferris et al. (1987) described a case and suggested that the segmental distribution, sporadic nature, and invariable discordance in identical twins for the occurrence of giant, hairy nevi is consistent with the hypothesis that the disease is a consequence of one or more somatic mutations which would result in prenatal lethality if they occurred in the germline cells. Demirci et al. (1995) described the MRI appearance of the brain in 2 cases of neurocutaneous melanosis. This demonstrated intraparenchymal melanin deposits but no detectable leptomeningeal abnormality. *FIELD* SA Fox et al. (1964); Kaplan et al. (1975); Reed et al. (1965); Tveten (1965) *FIELD* RF 1. Demirci, A.; Kawamura, Y.; Sze, G.; Duncan, C.: MR of parenchymal neurocutaneous melanosis. AJNR 16: 603-606, 1995. 2. Ferris, M. K.; Proud, V. K.; Narva, S. F.; Nance, W. E.: Neurocutaneous melanosis syndrome. (Abstract) Am. J. Hum. Genet. 41: A57 only, 1987. 3. Fox, H.; Emery, J. L.; Goodbody, R. A.; Yates, P. O.: Neuro-cutaneous melanosis. Arch. Dis. Child. 39: 508-516, 1964. 4. Kaplan, A. M.; Itabashi, H. H.; Hanelin, L. G.; Lu, A. T.: Neurocutaneous melanosis with malignant leptomeningeal melanoma. Arch. Neurol. 32: 669-671, 1975. 5. Reed, W. B.; Becker, S. W.; Becker, S. W., Jr.; Nickel, W. R.: Giant pigmented nevi melanoma, and leptomeningeal melanocytosis: a clinical and histopathological study. Arch. Derm. 91: 100-119, 1965. 6. Tveten, L.: Primary meningeal melanosis: a clinico-pathological report of two cases. Acta Path. Microbiol. Scand. 63: 1-10, 1965. *FIELD* CS Isolated cases;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the NRAS proto-oncogene gene, GTPase gene (NRAS, 164790.0002);

Neoplasia : Susceptibility to malignant melanoma;

Prefixed ID : #249400;

Details

Origin ID

249400;

UMLS CUI

C0544862;

Automatic exact mappings (from CISMeF team)
- NRAS wt Allele [NCIt concept]
- Neurocutaneous melanosis [PASCAL descriptor]
Currated CISMeF NLP mapping
- Neurocutaneous Melanosis [NCIt concept]
- Neurocutaneous melanocytosis [ORDO Disease]
- Neurocutaneous melanosis [MeSH concept]
- Neurocutaneous melanosis (disorder) [SNOMED CT concept]
- neurocutaneous melanosis [MeSH Supplementary Concept]
Genes related to phenotype
- Nras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Arachnoid cyst [HPO term]
- Choroid plexus papilloma [HPO term]
- Cranial nerve paralysis [HPO term]
- Dandy-Walker malformation [HPO term]
- Death in early childhood [HPO term]
- Death in infancy [HPO term]
- Giant pigmented nevi, often in lumbosacral distribution [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Isolated cases [HPO term]
- Melanoma [HPO term]
- Meningioma [HPO term]
- Mental deterioration [HPO term]
- Numerous congenital melanocytic nevi [HPO term]
- Seizure [HPO term]
- Somatic mutation [HPO term]
- Sporadic [HPO term]
- Syringomyelia [HPO term]
ORDO concept(s)
- Neurocutaneous melanocytosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Neurocutaneous Melanosis [NCIt concept]
- Neurocutaneous melanocytosis [ORDO Disease]
- Neurocutaneous melanosis [MeSH concept]
- Neurocutaneous melanosis (disorder) [SNOMED CT concept]
- neurocutaneous melanosis [MeSH Supplementary Concept]

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