NCMS
MCID: MLN073
MIFTS: 40

Melanosis, Neurocutaneous (NCMS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Melanosis, Neurocutaneous

MalaCards integrated aliases for Melanosis, Neurocutaneous:

Name: Melanosis, Neurocutaneous 58 54 76 41
Neurocutaneous Melanosis 77 54 60 30 6 74
Neuromelanosis 58 76
Melanosis 45 74
Ncms 58 76
Neurocutaneous Melanosis, Somatic 58
Neurocutaneous Melanosis Syndrome 54
Neurocutaneous Melanocytosis 60
Melanosis Coli 74
Ncm 60

Characteristics:

Orphanet epidemiological data:

60
neurocutaneous melanocytosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
somatic mutation

Miscellaneous:
onset in first years of life
some patient may be asymptomatic


HPO:

33
melanosis, neurocutaneous:
Clinical modifier death in infancy
Inheritance sporadic


Classifications:



Summaries for Melanosis, Neurocutaneous

NIH Rare Diseases : 54 Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. The typical cutaneous lesions are present at birth.  Neurological features typically present in the first or second year. Intracranial hypertension is the most common presentation, along with seizures, decreased alertness, and cranial nerve dysfunction.The underlying cause, while not completely understood, is believed to be a primary defect in the neural crest.Management depends on the symptoms present, and may include close observation, shunting to reduce intracranial pressure. The prognosis of patients with symptomatic neurocutaneous melanosis is generally poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.

MalaCards based summary : Melanosis, Neurocutaneous, also known as neurocutaneous melanosis, is related to becker nevus syndrome and carbon baby syndrome. An important gene associated with Melanosis, Neurocutaneous is NRAS (NRAS Proto-Oncogene, GTPase). Affiliated tissues include skin, brain and cerebellum, and related phenotypes are intellectual disability and seizures

OMIM : 58 Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013). (249400)

UniProtKB/Swiss-Prot : 76 Melanosis, neurocutaneous: A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma.

Wikipedia : 77 Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital... more...

Related Diseases for Melanosis, Neurocutaneous

Diseases related to Melanosis, Neurocutaneous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 becker nevus syndrome 12.1
2 carbon baby syndrome 12.0
3 nevus of ota 11.4
4 peutz-jeghers syndrome 11.4
5 familial progressive hyperpigmentation 11.4
6 hyperpigmentation with or without hypopigmentation, familial progressive 11.3
7 melanocytic nevus syndrome, congenital 11.3
8 diffuse meningeal melanocytosis 11.1
9 acromelanosis 11.1
10 laugier-hunziker syndrome 11.1
11 dandy-walker complex 10.7
12 hydrocephalus 10.5
13 rapidly involuting congenital hemangioma 10.4
14 melanomatosis 10.4
15 meningeal melanomatosis 10.4
16 diffuse leptomeningeal melanocytosis 10.4
17 isolated optic neuritis 10.3
18 epilepsy 10.3
19 tièche-jadassohn nevus 10.3
20 malignant conjunctival melanoma 10.2
21 dandy-walker syndrome 10.2
22 encephalocraniocutaneous lipomatosis 10.2
23 melanoma 10.2
24 lipomatosis 10.2
25 syringomyelia 10.2
26 meningeal melanocytoma 10.2
27 meningeal melanoma 10.2
28 arachnoid cysts 10.2
29 congenital hydrocephalus 10.2
30 lentigines 10.1
31 ovarian cyst 10.1
32 hemimegalencephaly 10.1
33 fatty liver disease, nonalcoholic 1 10.1
34 blood group, gerbich system 10.1
35 lipomatosis, multiple 10.1
36 nevus, epidermal 10.1
37 thyroid cancer, nonmedullary, 2 10.1
38 renal hypodysplasia/aplasia 1 10.1
39 ataxia-telangiectasia 10.1
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
41 ataxia and polyneuropathy, adult-onset 10.1
42 diabetes mellitus 10.1
43 hemangioma 10.1
44 melanoma in congenital melanocytic nevus 10.1
45 pleomorphic lipoma 10.1
46 spinal meningioma 10.1
47 telangiectasis 10.1
48 focal epilepsy 10.1
49 intracranial cavernous angioma 10.1
50 rhabdomyosarcoma 10.1

Graphical network of the top 20 diseases related to Melanosis, Neurocutaneous:



Diseases related to Melanosis, Neurocutaneous

Symptoms & Phenotypes for Melanosis, Neurocutaneous

Human phenotypes related to Melanosis, Neurocutaneous:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 generalized hirsutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002230
4 numerous congenital melanocytic nevi 60 33 hallmark (90%) Very frequent (99-80%) HP:0005603
5 thickened skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001072
6 generalized hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007440
7 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
8 encephalitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002383
9 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
10 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
11 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
12 melanoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002861
13 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
14 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
15 abnormality of neuronal migration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002269
16 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
17 chorioretinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000567
18 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
19 meningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002435
20 intracranial hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002170
21 dandy-walker malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001305
22 hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001269
23 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396
24 hydrocephalus 33 occasional (7.5%) HP:0000238
25 global developmental delay 33 occasional (7.5%) HP:0001263
26 meningioma 33 occasional (7.5%) HP:0002858
27 arachnoid cyst 33 occasional (7.5%) HP:0100702
28 choroid plexus papilloma 33 occasional (7.5%) HP:0200022
29 neoplasm 60 Occasional (29-5%)
30 death in infancy 60 Occasional (29-5%)
31 melanocytic nevus 60 Very frequent (99-80%)
32 ventriculomegaly 60 Occasional (29-5%)
33 mental deterioration 33 HP:0001268

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
numerous congenital melanocytic nevi
giant pigmented nevi, often in lumbosacral region

Neoplasia:
susceptibility to malignant melanoma

Neurologic Central Nervous System:
syringomyelia (in some patients)
seizures (in some patients)
parenchymal neuromelanosis
dandy-walker malformation (in some patients)
delayed development (in some patients)
more

Clinical features from OMIM:

249400

Drugs & Therapeutics for Melanosis, Neurocutaneous

Search Clinical Trials , NIH Clinical Center for Melanosis, Neurocutaneous

Cochrane evidence based reviews: melanosis

Genetic Tests for Melanosis, Neurocutaneous

Genetic tests related to Melanosis, Neurocutaneous:

# Genetic test Affiliating Genes
1 Neurocutaneous Melanosis 30 NRAS

Anatomical Context for Melanosis, Neurocutaneous

MalaCards organs/tissues related to Melanosis, Neurocutaneous:

42
Skin, Brain, Cerebellum, Spinal Cord, Amygdala, Pons, Myeloid

Publications for Melanosis, Neurocutaneous

Articles related to Melanosis, Neurocutaneous:

(show top 50) (show all 165)
# Title Authors Year
1
Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation. ( 30792691 )
2019
2
Malignant transformation of neurocutaneous melanosis (NCM) following immunosuppression. ( 30868657 )
2019
3
Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. ( 29948137 )
2018
4
Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature. ( 30205217 )
2018
5
Neurocutaneous Melanosis with Leptomeningeal Melanoma Involving Supratentorium and Infratentorium. ( 30443446 )
2018
6
NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called "forme fruste" of neurocutaneous melanosis. ( 30145692 )
2018
7
Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature. ( 29530698 )
2018
8
New insights into neurocutaneous melanosis. ( 30074086 )
2018
9
Neurocutaneous Melanosis with Bilateral Temporal Lobe Lesions without Leptomeningeal Enhancement: A Distinct Entity or Subtype. ( 30271467 )
2018
10
Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis. ( 27002302 )
2017
11
Neurocutaneous Melanosis Presenting as Cavernous Hemangioma Persistent Abdominal Pain. ( 27792104 )
2017
12
CSF cytology diagnosis of NRAS-mutated primary leptomeningeal melanomatosis with neurocutaneous melanosis. ( 27696542 )
2017
13
Supratentorial intermediate grade meningeal melanocytoma with intratumoral bleed in the background of neurocutaneous melanosis: Report of an unusual case and review of literature. ( 28413547 )
2017
14
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis. ( 27988846 )
2017
15
Neurocutaneous Melanosis Associated with Prenatally Diagnosed Arachnoid Cyst. ( 27978592 )
2016
16
Early diagnosis of asymptomatic neurocutaneous melanosis (60 month follow-up). ( 26762599 )
2016
17
Mystery Case: Neurocutaneous melanosis with diffuse leptomeningeal malignant melanoma in an adult. ( 26903493 )
2016
18
Sonographic and magnetic resonance imaging findings of neurocutaneous melanosis. ( 26973729 )
2016
19
Age related changes in brain MR appearance in the course of neurocutaneous melanosis. ( 27423683 )
2016
20
Multifocal melanocytoma of the posterior fossa and subcutaneous scalp in the absence of neurocutaneous melanosis. ( 27656317 )
2016
21
Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas. ( 27857802 )
2016
22
Diagnostic and therapeutic approach for neurocutaneous melanosis in a young adult. ( 27939117 )
2016
23
Neurocutaneous melanosis. ( 28057974 )
2016
24
Leptomeningeal melanomatosis associated with neurocutaneous melanosis: an autopsy case report. ( 25521302 )
2015
25
Neurocutaneous melanosis: Review of a rare non-familial neuroectodermal dysplasia with newer association of cerebellopontine angle cistern lipoma. ( 25963155 )
2015
26
Neurocutaneous melanosis is associated with tethered spinal cord. ( 25119153 )
2015
27
Giant congenital melanocytic nevi and neurocutaneous melanosis. ( 25722729 )
2015
28
A case of neurocutaneous melanosis and neuroimaging findings. ( 25926927 )
2015
29
Neurocutaneous melanosis and congenital melanocytic naevi: a retrospective review of clinical and radiological characteristics. ( 26075503 )
2015
30
Teaching NeuroImages: Neurocutaneous melanosis. ( 26078408 )
2015
31
Case 220: Neurocutaneous Melanosis. ( 26203712 )
2015
32
Revisiting neurocutaneous melanosis spectrum: do we have to undertake systematic magnetic resonance imaging in children with congenital melanocytic naevi? ( 26404575 )
2015
33
Neurocutaneous melanosis. ( 26564074 )
2015
34
Teaching NeuroImages: Neurocutaneous melanosis. ( 26668241 )
2015
35
Neurocutaneous melanosis in association with dandy-walker complex with extensive intracerebral and spinal cord involvement. ( 25289129 )
2014
36
Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. ( 23620525 )
2014
37
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. ( 24006476 )
2014
38
A giant congenital melanocytic nevus associated with neurocutaneous melanosis. ( 24173435 )
2014
39
Neurocutaneous melanosis in children with giant congenital melanocytic nevi. ( 24239041 )
2014
40
Neurocutaneous melanosis: an illustrative patient. ( 25011435 )
2014
41
Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis. ( 25330907 )
2014
42
Early sonographic diagnosis of neurocutaneous melanosis in a newborn. ( 25780540 )
2014
43
[Neurocutaneous melanosis and multiple congenital melanocytic naevi are associated with post-zygotic N-ras mutations]. ( 24703650 )
2014
44
Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report. ( 24077274 )
2013
45
Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant. ( 27493376 )
2013
46
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. ( 23392294 )
2013
47
Neurocutaneous melanosis. ( 23392328 )
2013
48
Symptomatic neurocutaneous melanosis in a child. ( 23420073 )
2013
49
Rapidly progressive and fatal neurocutaneous melanosis presenting as recurrent headache. ( 23679165 )
2013
50
Letters to the editor: Neurocutaneous melanosis. ( 23870039 )
2013

Variations for Melanosis, Neurocutaneous

UniProtKB/Swiss-Prot genetic disease variations for Melanosis, Neurocutaneous:

76
# Symbol AA change Variation ID SNP ID
1 NRAS p.Gln61Lys VAR_006846 rs121913254
2 NRAS p.Gln61Arg VAR_006847 rs11554290

ClinVar genetic disease variations for Melanosis, Neurocutaneous:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
2 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
3 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
4 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
5 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 NCBI36 Chromosome 1, 115058053: 115058053

Expression for Melanosis, Neurocutaneous

Search GEO for disease gene expression data for Melanosis, Neurocutaneous.

Pathways for Melanosis, Neurocutaneous

GO Terms for Melanosis, Neurocutaneous

Sources for Melanosis, Neurocutaneous

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34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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