MCID: MLN073
MIFTS: 38

Melanosis, Neurocutaneous

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

Aliases & Classifications for Melanosis, Neurocutaneous

MalaCards integrated aliases for Melanosis, Neurocutaneous:

Name: Melanosis, Neurocutaneous 57 53 75 40
Neurocutaneous Melanosis 76 53 59 29 6 73
Neuromelanosis 57 75
Melanosis 44 73
Ncms 57 75
Neurocutaneous Melanosis, Somatic 57
Neurocutaneous Melanosis Syndrome 53
Neurocutaneous Melanocytosis 59
Melanosis Coli 73
Ncm 59

Characteristics:

Orphanet epidemiological data:

59
neurocutaneous melanocytosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
melanosis, neurocutaneous:
Mortality/Aging death in infancy
Inheritance sporadic


Classifications:



Summaries for Melanosis, Neurocutaneous

NIH Rare Diseases : 53 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 carbon baby syndrome and becker nevus 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 : 57 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 : 75 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 : 76 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 all 15)
# Related Disease Score Top Affiliating Genes
1 carbon baby syndrome 11.8
2 becker nevus syndrome 11.7
3 diffuse meningeal melanocytosis 11.2
4 nevus of ota 11.2
5 familial progressive hyperpigmentation 11.2
6 peutz-jeghers syndrome 11.2
7 giant congenital nevus 11.2
8 hyperpigmentation with or without hypopigmentation, familial progressive 11.1
9 melanocytic nevus syndrome, congenital 11.1
10 melanoma 10.3
11 hydrocephalus 10.0
12 ovarian cyst 10.0
13 peritonitis 10.0
14 dandy-walker complex 10.0
15 hemimegalencephaly 10.0

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



Diseases related to Melanosis, Neurocutaneous

Symptoms & Phenotypes for Melanosis, Neurocutaneous

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Melanosis, Neurocutaneous:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
4 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
5 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
6 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
7 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
8 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
9 numerous congenital melanocytic nevi 59 32 hallmark (90%) Very frequent (99-80%) HP:0005603
10 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
11 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
12 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
13 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
14 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
15 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
16 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
17 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
18 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
19 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
20 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
21 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
22 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
23 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
24 hydrocephalus 32 occasional (7.5%) HP:0000238
25 global developmental delay 32 occasional (7.5%) HP:0001263
26 neoplasm 59 Occasional (29-5%)
27 death in infancy 59 Occasional (29-5%)
28 melanocytic nevus 59 Very frequent (99-80%)
29 ventriculomegaly 59 Occasional (29-5%)
30 mental deterioration 32 HP:0001268
31 meningioma 32 occasional (7.5%) HP:0002858
32 arachnoid cyst 32 occasional (7.5%) HP:0100702
33 choroid plexus papilloma 32 occasional (7.5%) HP:0200022

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 29 NRAS

Anatomical Context for Melanosis, Neurocutaneous

MalaCards organs/tissues related to Melanosis, Neurocutaneous:

41
Skin, Brain, Cerebellum, Spinal Cord, Amygdala, Pons, Endothelial

Publications for Melanosis, Neurocutaneous

Articles related to Melanosis, Neurocutaneous:

(show top 50) (show all 136)
# Title Authors Year
1
Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. ( 29948137 )
2018
2
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
3
Multifocal melanocytoma of the posterior fossa and subcutaneous scalp in the absence of neurocutaneous melanosis. ( 27656317 )
2016
4
CSF cytology diagnosis of NRAS-mutated primary leptomeningeal melanomatosis with neurocutaneous melanosis. ( 27696542 )
2016
5
Neurocutaneous Melanosis Presenting as Cavernous Hemangioma Persistent Abdominal Pain. ( 27792104 )
2016
6
Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice. ( 27002302 )
2016
7
Case 220: Neurocutaneous Melanosis. ( 26203712 )
2015
8
Giant congenital melanocytic nevi and neurocutaneous melanosis. ( 25722729 )
2015
9
Leptomeningeal melanomatosis associated with neurocutaneous melanosis: an autopsy case report. ( 25521302 )
2015
10
Neurocutaneous melanosis is associated with tethered spinal cord. ( 25119153 )
2014
11
Neurocutaneous melanosis: an illustrative patient. ( 25011435 )
2014
12
Neurocutaneous melanosis in association with dandy-walker complex with extensive intracerebral and spinal cord involvement. ( 25289129 )
2014
13
Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis. ( 25330907 )
2014
14
Early sonographic diagnosis of neurocutaneous melanosis in a newborn. ( 25780540 )
2014
15
[Neurocutaneous melanosis and multiple congenital melanocytic naevi are associated with post-zygotic N-ras mutations]. ( 24703650 )
2014
16
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. ( 23392294 )
2013
17
Symptomatic neurocutaneous melanosis in a child. ( 23420073 )
2013
18
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
19
Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant. ( 27493376 )
2013
20
Encephalocraniocutaneous Lipomatosis With Neurocutaneous Melanosis. ( 23620525 )
2013
21
Neurocutaneous melanosis. ( 23392328 )
2013
22
A Giant Congenital Melanocytic Nevus Associated with Neurocutaneous Melanosis. ( 24173435 )
2013
23
Letters to the editor: Neurocutaneous melanosis. ( 23870039 )
2013
24
Neurocutaneous melanosis in children with giant congenital melanocytic nevi. ( 24239041 )
2013
25
Rapidly progressive and fatal neurocutaneous melanosis presenting as recurrent headache. ( 23679165 )
2013
26
Fatal leptomeningeal melanoma in neurocutaneous melanosis. ( 21906139 )
2012
27
Dermal melanocytosis of the scalp associated to intracranial melanoma: malignant blue nevus, neurocutaneous melanosis, or neurocristic cutaneous hamartoma? ( 22123266 )
2012
28
Neurocutaneous melanosis associated with Dandy-Walker complex and an intracranial cavernous angioma. ( 22134415 )
2012
29
Stable neurocutaneous melanosis in a ten-year-old boy with controlled partial-complex seizures. A case report. ( 24028916 )
2012
30
Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. ( 22294043 )
2012
31
Congenital melanocytic nevi: where are we now? Part I. Clinical presentation, epidemiology, pathogenesis, histology, malignant transformation, and neurocutaneous melanosis. ( 22980258 )
2012
32
Leptomeningeal melanocytosis in an adult male without large congenital nevi: a rare and atypical case of neurocutaneous melanosis. ( 21726502 )
2011
33
Neurocutaneous melanosis in association with proliferative skin nodules. ( 21995739 )
2011
34
Neurocutaneous melanosis: follow-up and literature review. ( 21489630 )
2011
35
Dandy-walker malformation associated with neurocutaneous melanosis. ( 22259699 )
2011
36
Neurocutaneous melanosis: assessment on F-18 FDG and [11C]-methionine PET/CT and MRI. ( 21892043 )
2011
37
Rapid response to therapy of neurocutaneous melanosis with leptomeningeal melanoma. ( 19722276 )
2010
38
Teaching NeuroImages: neurocutaneous melanosis. ( 20458064 )
2010
39
Rare presentation in an adult patient with neurocutaneous melanosis. ( 20964655 )
2010
40
The risk of melanoma and neurocutaneous melanosis associated with congenital melanocytic nevi. ( 21051009 )
2010
41
Characteristic MR Imaging Findings of Neurocutaneous Melanosis. A Case Report. ( 24148586 )
2010
42
Neurocutaneous melanosis: a fatal disease in early childhood. ( 19349541 )
2009
43
Symptomatic neurocutaneous melanosis and Dandy-Walker malformation in an adult. ( 19398571 )
2009
44
The pathologic features of neurocutaneous melanosis in a cynomolgus macaque. ( 19276048 )
2009
45
Neurocutaneous melanosis and the Dandy-Walker complex: an uncommon but not so insignificant association. ( 19711088 )
2009
46
SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity. ( 18234391 )
2008
47
Neurocutaneous melanosis presenting as chronic partial epilepsy. ( 19513317 )
2008
48
Neurocutaneous melanosis in an adult patient with diffuse leptomeningeal melanosis and a rapidly deteriorating course: case report and review of the literature. ( 18407407 )
2008
49
The vascular endothelial cell is a new origin of melanin pigment on cynomolgus macaque with neurocutaneous melanosis. ( 19067973 )
2008
50
Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review. ( 18477004 )
2008

Variations for Melanosis, Neurocutaneous

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

75
# 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_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
2 NRAS NM_002524.4(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 Pathogenic/Likely pathogenic,drug response rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
4 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
5 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response 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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74 UMLS via Orphanet
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