NCMS
MCID: MLN073
MIFTS: 45

Melanosis, Neurocutaneous (NCMS)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Melanosis, Neurocutaneous

MalaCards integrated aliases for Melanosis, Neurocutaneous:

Name: Melanosis, Neurocutaneous 57 19 73 38
Neurocutaneous Melanosis 19 58 75 71
Neurocutaneous Melanocytosis 58 28 5
Neuromelanosis 57 73
Ncms 57 73
Neurocutaneous Melanosis, Somatic 57
Neurocutaneous Melanosis Syndrome 19
Melanosis Coli 71
Melanosis 71
Ncm 58

Characteristics:


Inheritance:

Somatic mutation 57

Prevelance:

Neurocutaneous Melanocytosis: 1-9/100000 (Europe) 58

Age Of Onset:

Neurocutaneous Melanocytosis: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in first years of life
some patient may be asymptomatic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Melanosis, Neurocutaneous

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) (Updated 08-Dec-2022)

MalaCards based summary: Melanosis, Neurocutaneous, also known as neurocutaneous melanosis, is related to large congenital melanocytic nevus and diffuse leptomeningeal melanocytosis. An important gene associated with Melanosis, Neurocutaneous is NRAS (NRAS Proto-Oncogene, GTPase). The drugs Azelaic acid and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, amygdala and spinal cord, and related phenotypes are intellectual disability and seizure

GARD: 19 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.

Orphanet: 58 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; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

UniProtKB/Swiss-Prot: 73 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: 75 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 133)
# Related Disease Score Top Affiliating Genes
1 large congenital melanocytic nevus 11.3
2 diffuse leptomeningeal melanocytosis 11.2
3 scalp syndrome 11.2
4 melanocytic nevus syndrome, congenital 11.1
5 melanoma in congenital melanocytic nevus 10.9
6 hydrocephalus 10.8
7 dandy-walker syndrome 10.7
8 melanoma 10.7
9 intracranial hypertension 10.4
10 rapidly involuting congenital hemangioma 10.4
11 lipomatosis, multiple 10.3
12 meningeal melanoma 10.3
13 melanomatosis 10.3
14 primary melanoma of the central nervous system 10.3
15 arachnoid cysts, intracranial 10.3
16 hydrocephalus, congenital, 1 10.3
17 spinal cord disease 10.3
18 meningeal melanocytoma 10.3
19 meningeal melanomatosis 10.3
20 skin melanoma 10.3
21 tièche-jadassohn nevus 10.3
22 obstructive hydrocephalus 10.2
23 neural tube defects 10.2
24 cerebral cavernous malformations 10.1
25 schimmelpenning-feuerstein-mims syndrome 10.1
26 meningioma, familial 10.1
27 encephalocraniocutaneous lipomatosis 10.1
28 tethered spinal cord syndrome 10.1
29 communicating hydrocephalus 10.1
30 focal epilepsy 10.1
31 lipomatosis 10.1
32 skin benign neoplasm 10.1
33 syringomyelia 10.1
34 amelanotic melanoma 10.1
35 diffuse meningeal melanocytosis 10.1
36 neurofibroma 10.1
37 idiopathic syringomyelia 10.1
38 quadriplegia 10.0
39 spinal cord lipoma 10.0
40 hypertrichosis 10.0
41 ovarian cyst 10.0
42 neuroblastoma 10.0
43 coloboma of macula 10.0
44 ehlers-danlos syndrome, arthrochalasia type, 1 10.0
45 glioma susceptibility 1 10.0
46 hirschsprung disease 1 10.0
47 systemic lupus erythematosus 10.0
48 melanoma, cutaneous malignant 1 10.0
49 nevus, epidermal 10.0
50 capillary malformations, congenital 10.0

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:

58 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
3 numerous congenital melanocytic nevi 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005603
4 generalized hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002230
5 generalized hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007440
6 thickened skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001072
7 eeg abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002353
8 behavioral abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000708
9 abnormality of retinal pigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007703
10 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
11 melanoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002861
12 renal hypoplasia/aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008678
13 venous thrombosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004936
14 meningocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002435
15 chorioretinal coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000567
16 dandy-walker malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001305
17 intracranial hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002170
18 abnormality of neuronal migration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002269
19 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
20 syringomyelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003396
21 hydrocephalus 30 Occasional (7.5%) HP:0000238
22 global developmental delay 30 Occasional (7.5%) HP:0001263
23 meningioma 30 Occasional (7.5%) HP:0002858
24 choroid plexus papilloma 30 Occasional (7.5%) HP:0200022
25 arachnoid cyst 30 Occasional (7.5%) HP:0100702
26 chiari malformation 30 Occasional (7.5%) HP:0002308
27 infectious encephalitis 30 Occasional (7.5%) HP:0002383
28 encephalitis 58 Occasional (29-5%)
29 melanocytic nevus 58 Very frequent (99-80%)
30 neoplasm 58 Occasional (29-5%)
31 aplasia/hypoplasia of the cerebellum 58 Occasional (29-5%)
32 death in infancy 58 Occasional (29-5%)
33 ventriculomegaly 58 Occasional (29-5%)
34 arnold-chiari malformation 58 Occasional (29-5%)
35 mental deterioration 30 HP:0001268

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
numerous congenital melanocytic nevi
giant pigmented nevi, often in lumbosacral region

Neoplasia:
susceptibility to malignant melanoma

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

Clinical features from OMIM®:

249400 (Updated 08-Dec-2022)

Drugs & Therapeutics for Melanosis, Neurocutaneous

Drugs for Melanosis, Neurocutaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azelaic acid Approved Phase 4 123-99-9 2266
2
Ethanol Approved Phase 4 64-17-5 702
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
5
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
6
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
7
Zinc oxide Approved Phase 4 1314-13-2
8
Iron Approved Phase 4 7439-89-6 29936
9
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
10
Avobenzone Approved, Investigational Phase 4 70356-09-1
11
Titanium dioxide Approved Phase 4 13463-67-7
12
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
13
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
14
Fluocinolone acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
15
Isotretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4, 4759-48-2 5538 444795 5282379
16
Benzophenone Experimental Phase 4 119-61-9 3102
17 Cytochrome P-450 Enzyme Inhibitors Phase 4
18 Cytochrome P-450 CYP3A Inhibitors Phase 4
19 Keratolytic Agents Phase 4
20 Dermatologic Agents Phase 4
21 Antirheumatic Agents Phase 4
22 Anti-Infective Agents Phase 4
23 Antifungal Agents Phase 4
24 Cyclooxygenase Inhibitors Phase 4
25 Anti-Inflammatory Agents, Non-Steroidal Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Analgesics Phase 4
29
Salicylates Phase 4
30 Photosensitizing Agents Phase 4
31 Octylmethoxycinnamate Phase 4
32 Terephthalylidene dicamphor sulfonic acid Phase 4
33 Pharmaceutical Solutions Phase 4
34 Hypoglycemic Agents Phase 4
35 Silymarin Phase 4
36 Antioxidants Phase 4
37 Protective Agents Phase 4
38 Sunscreening Agents Phase 4
39 Tin Fluorides Phase 4
40 Radiation-Protective Agents Phase 4
41 glucocorticoids Phase 4
42
Coal tar Approved Phase 3 8007-45-2
43
Selenium Approved, Investigational, Vet_approved Phase 3 7783-07-5, 7782-49-2 533
44
Selenious acid Approved, Investigational Phase 3 14124-67-5, 7783-00-8 1091
45
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307
46 Anticoagulants Phase 3
47 Calcium, Dietary Phase 3
48 Trace Elements Phase 3
49
Sodium Selenite Phase 3
50 Micronutrients Phase 3

Interventional clinical trials:

(show top 50) (show all 86)
# Name Status NCT ID Phase Drugs
1 Efficacy & Safety of Azelaic Acid 15% Gel vs. Hydroquinone 4% Cream in the Treatment of Melasma Unknown status NCT00927771 Phase 4 azelaic acid gel;hydroquinone cream
2 Comparing Tranexamic Acid Microinjection Alone Versus Its Combination With Fractional Carbon Dioxide Laser in Melasma Treatment Unknown status NCT03899233 Phase 4 Tranexamic acid intradermal microinjections
3 The Efficacy of Oral Tranexamic Acid and a 1927 nm Diode Laser in Patients With Melasma. A Prospective Randomized Split Face Study Unknown status NCT03686787 Phase 4 Tranexamic Acid
4 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Unknown status NCT03923062 Phase 4
5 The Efficacy of Combined Peels in Treatment of Melasma Using Modified Jessner's Solution With 20%Trichloroacetic Acid Versus 70%Glycolic Acid With 20% Trichloroacetic Acid : A Split-face Study Unknown status NCT03153852 Phase 4 Modified Jessner's solution;Glycolic acid;Trichloroacetic acid
6 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
7 A Clinical Usage Study to Evaluate the Safety and Efficacy of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
8 A Double Blind Randomized Study Comparing the Ultraviolet (UV) Photoprotection With UV Plus Visible Light Photoprotection in the Treatment of Melasma. Completed NCT01695356 Phase 4 290-400 nm sunscreen;290-800 nm sunscreen
9 Open Label Study to Evaluate the Efficacy and Safety of Sequential Therapy With Fluocinolone Acetonide 0.01%, Hydroquinone (HQ) 4% and Tretinoin 0.05% (TriLuma® Cream) and a Series of Glycolic Acid Peels for the Treatment of Melasma Completed NCT00472966 Phase 4 Fluocinolone acetonide 0.1%/hydroquinone 4%/tretinoin 0.05% Cream in sequence with glycolic acid peels
10 An Assessment of the Atrophogenic Potential of Triple Combination Cream Using Histology Measures in the Treatment of Moderate to Severe Melasma Completed NCT00469183 Phase 4 Fluocinolone acetonide .1%, hydroquinone 4%, tretinoin .05%
11 Comparison of Two Tri-Luma® Maintenance Regimens in the Treatment of Melasma Completed NCT00500162 Phase 4
12 Treatment of Melasma With Jessner's Solution vs. Trichloroacetic Acid: A Comparison of Clinical Efficacy Completed NCT00166192 Phase 4
13 The Efficacy of Salicylic Acid Peels Combined With 4% Hydroquinone Cream Versus 4% Hydroquinone Cream Alone in the Treatment of Hispanic Women With Moderate to Severe Melasma Completed NCT00616239 Phase 4 20-30% Salicylic Acid peels to the right side of the face;20-30% Salicylic Acid peels to the left side of the face
14 THE METFORMIN AND TRICHLOROACETIC ACID IN TREATMENT OF MELASMA Recruiting NCT03475524 Phase 4 MetFORMIN 1000 Mg Oral Tablet;Placebos;Trichloroacetic Acid Peeling;MetFORMIN 500 Mg Oral Tablet
15 Trichloroacetic Acid (TCA) Combined With Microdermabrasion in Treatment of Melasma Not yet recruiting NCT04823520 Phase 4 TCA
16 Topical Silymarin Versus Combined Topical Silymarin and Microneedling in Treatment of Melasma: Split Face Study Not yet recruiting NCT05099601 Phase 4
17 Treatment of Melasma With Stabilized Kligman Preparation Associated or Not With Pulsed Dye Laser; a Comparative Prospective Study Terminated NCT00863278 Phase 4 Kligman's Trio
18 Split-Face, Randomized, Open-Label Study of Sequential Treatment With Tri-Luma® Cream With Intense Pulsed Light (IPL) vs. a Mild Inactive Control Cream With Intense Pulsed Light (IPL) in Subjects With Melasma Terminated NCT00669071 Phase 4 Fluocinolone acetonide 0.01%, hydroquinone 4%, tretinoin 0.05%;Cetaphil® Moisturizing Cream as Inactive Control
19 Oral and 5% Topical Tranexamic Acid in Monotherapy Compared With 4% Topical Hydroquinone for the Treatment of Melasma: Three-arm Randomized, Double-blinded Clinical Trial Unknown status NCT03585179 Phase 3 Oral Tranexamic Acid;5% topical tranexamic acid;4% hydroquinone
20 Evaluation of Fractional CO2 Laser and Tranexamic Acid in Treatment of Melasma:Clinical,Histopathological and Immunohistochemical Study Unknown status NCT04599205 Phase 2, Phase 3 Tranexamic acid
21 Azelaic Acid Iontophoresis Versus Topical Azelaic Acid Cream in the Treatment of Melasma - An Open Randomized, Controlled, Prospective, Single Blinded Clinical Trial Unknown status NCT00848458 Phase 2, Phase 3
22 Evaluation of the Therapeutic Effect of Platelet Rich Plasma in Melasma Unknown status NCT03308370 Phase 3
23 Selenite in the Detoxification of Arsenic and the Prevention of Arsenical Melanosis and Cancers Amongst Bangladeshi Arsenicosis Patients: A 48-week, Randomized, Double-blinded, Placebo-controlled Phase III Trial Completed NCT01442727 Phase 3 sodium selenite;placebo
24 Comparison of Efficacy of Tranexamic Acid Mesotherapy Versus 0.9% Normal Saline for Melasma; a Split Face Study in Tertiary Care Hospital of Karachi Completed NCT04170088 Phase 2, Phase 3 Tranexamic Acid;0.9% Normal Saline
25 Randomized, Controlled, Double-blind Study of Oral Tranexamic Acid and Topical Hydroquinone in the Treatment of Melasma Completed NCT03751163 Phase 3 Tranexamic Acid Oral Product;Hydroquinone 4% Cream
26 Efficacy and Safety of a 4% Hydroquinone Cream (Melanoderm 4%) for the Treatment of Melasma: a Randomized Controlled Split-face Study Completed NCT02095990 Phase 3 Hydroquinone;Placebo
27 Efficacy of Melanil in the Treatment of Melasma Completed NCT01001624 Phase 3
28 Efficiency And Safety Of Association Arbutin, Triamcinolone And Tretinoin In The Treatment Of Facial Melasma, Taking As Reference The Product Triluma ® (Hidroquinone, Fluoncinolone And Tretinoin). Suspended NCT00717652 Phase 2, Phase 3 arbutin, tretinoin, triamcinolone;Triluma
29 Efficacy of Platelet-rich Plasma in Treatment of Melasma Completed NCT03674203 Phase 2
30 An Open-Label Pilot Study Evaluating the Effectiveness and Tolerability of a Topical Composition Therapy (2013-MCN-333) for the Treatment of Melasma Completed NCT02730819 Phase 2 Illuminate Cream
31 A Comparative Study for Efficacy and Safety Between 4% Hydroquinone Cream With or Without Fractional Picosecond 1,064 nm Laser for the Treatment of Dermal or Mixed Type Melasma Completed NCT03049059 Phase 2 4% hydroquinone cream
32 Comparison of Topical Silymarin With Hydroquinone in the Treatment of Melasma Completed NCT03982849 Phase 2 Hydroquinone 4% Cream;silymarin 0.7% cream
33 Comparison of a New Masterful Preparation to Kligman's Trio in the Treatment of Melasma: a Double Blind Prospective Randomzed Study Recruiting NCT05119413 Phase 2 New trio de Kligman;Trio Kligman
34 Comparative Study for the Treatment of Freckles by Intradermal Tranexamic Acid Versus Q Switched KTP Laser (532nm) Unknown status NCT03885895 Phase 1 Tranexamic Acid Injectable Product
35 Comparative Study of mMASI Before and After Hyperthyroid Therapy in Hyperthyroid Subjects With Melasma Completed NCT04346901 Phase 1 Thiamazol
36 Comparative Study Between Chemical Peeling With 70% Glycolic Acid and Intradermal Transamine for the Treatment of Melasma. Completed NCT05362500 Phase 1 Glycolic Acid 70%;Tranexamic acid injection
37 Green Banana Peel Extract for Melasma Treatment Completed NCT05031689 Phase 1
38 Spironolactone for the Treatment of Melasma: a Prospective, Open-label Proof-of-concept and Dose-ranging Study Withdrawn NCT03953209 Phase 1 Spironolactone 50Mg Tablet;Spironolactone 100Mg Tablet;Spironolactone 200Mg
39 Tri-split Face Study of Skin Resurfacing Modalities for the Treatment of Melasma Withdrawn NCT02892071 Phase 1 22% TCA peel
40 The Efficacy of Melanostop Peel in Combination With Specifically Selected Home Care Regimen for Improvement of Melasma Unknown status NCT03826277
41 A Prospective, Double-blind, Split-body, Randomized Controlled Trial to Assess the Efficacy of Low Level Laser Therapy for Pigmentary Disorders Unknown status NCT04308421
42 Efficacy and Safety of Using Combination of 755-nm Picosecond Alexandrite Laser and 2% Hydroquinone Compared With 2% Hydroquinone Alone for the Treatment of Melasma: a Randomized Split-face Controlled Trial Unknown status NCT04597203 topical 2% hydroquinone
43 A Split-face Comparison of Low Fluence 1064-nm Q-switched Nd:YAG Laser Plus Vitamin C vs Low Fluence 1064-nm Q-switched Nd:YAG Laser Plus Intradermal Tranexamic Acid Injection for Melasma:a Single Blinded, Randomised Study Unknown status NCT03008655
44 Evaluation of the Lutronic PicoPlus for the Treatment of Dematological Conditions Such as Unwanted Tattoos and Benign Pigmented Lesions Unknown status NCT03415685
45 Combined Trichlotoaceticacid and Microneedle Versus Trichlroacetic Acid Alone in the Treatment of Melasma Unknown status NCT03472235
46 Evaluation of the Lutronic LaseMD System for the Treatment of Melasma Unknown status NCT03456674
47 A Pilot Study Comparing the Efficacy of 1064 Q-switch Laser vs. Glycolic Acid Peels for the Treatment of Melasma: A Randomized Control Trial Completed NCT01976273
48 Comparative Study of Dual Yellow Laser Versus Stabilized Kilnman Preparation in the Treatment of Melasma Completed NCT01850186 Stabilized kilnman trio
49 Study of the Influence of Blue Light Emitted by Computer / Television Screens on Melasma Single-center, Interventional, Randomized, Single-blind Study (Masked Investigator) MELABLUE Study Completed NCT03877445
50 Oral Superoxide Dismutase (GLISODin) to Decrease Melasma Severity. A Prospective Randomized Placebo-controlled Study Completed NCT03878433 Glisodin

Search NIH Clinical Center for Melanosis, Neurocutaneous

Genetic Tests for Melanosis, Neurocutaneous

Genetic tests related to Melanosis, Neurocutaneous:

# Genetic test Affiliating Genes
1 Neurocutaneous Melanocytosis 28 NRAS

Anatomical Context for Melanosis, Neurocutaneous

Organs/tissues related to Melanosis, Neurocutaneous:

MalaCards : Skin, Amygdala, Spinal Cord, Pons, Cerebellum, Brain, Thyroid

Publications for Melanosis, Neurocutaneous

Articles related to Melanosis, Neurocutaneous:

(show top 50) (show all 706)
# Title Authors PMID Year
1
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 62 57 5
23392294 2013
2
Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. 62 57
22469364 2012
3
Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. 62 57
18671780 2008
4
Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children. 62 57
11252085 2001
5
MR of parenchymal neurocutaneous melanosis. 62 57
7793388 1995
6
Neurocutaneous melanosis with malignant leptomeningeal melanoma. A case with metastases outside the nervous system. 62 57
1180728 1975
7
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 5
24006476 2014
8
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 5
22499344 2012
9
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 5
18633438 2009
10
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 5
12727991 2003
11
GIANT PIGMENTED NEVI, MELANOMA, AND LEPTOMENINGEAL MELANOCYTOSIS: A CLINICAL AND HISTOPATHOLOGICAL STUDY. 57
14237589 1965
12
PRIMARY MENINGEAL MELANOSIS. A CLINICO-PATHOLOGICAL REPORT OF TWO CASES. 57
14276523 1965
13
NEURO-CUTANEOUS MELANOSIS. 57
14223666 1964
14
Congenital Melanocytic Nevi Syndrome With Leptomeningeal Melanoma. 62
35867990 2022
15
Light dependence in the phototrophy-phagotrophy balance of constitutive and non-constitutive mixotrophic protists. 62
35962828 2022
16
Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis. 62
35728810 2022
17
Changes in health care utilization and financial protection after integration of the rural and urban social health insurance schemes in Beijing, China. 62
36192795 2022
18
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders. 62
34607749 2022
19
Calycosin protects against oxidative stress-induced cardiomyocyte apoptosis by activating aldehyde dehydrogenase 2. 62
36059198 2022
20
UV-excited blue- to green-emitting Tb3+ -activated sodium calcium metasilicate colour tunable phosphor for luminescence devices. 62
35797222 2022
21
Altered gene expression due to aberrant DNA methylation correlates with responsiveness to anti-EGFR antibody treatment. 62
35403373 2022
22
CSF2-dependent monocyte education in the pathogenesis of ANCA-induced glomerulonephritis. 62
35418479 2022
23
Enhanced rate capability and high-voltage cycling stability of single-crystal nickel-rich cathode by surface anchoring dielectric BaTiO3. 62
35367925 2022
24
Neuropsychiatric systemic lupus erythematosus in a girl with neurocutaneous melanosis caused by a somatic mutation in NRAS. 62
35238342 2022
25
pH/redox-responsive core cross-linked based prodrug micelle for enhancing micellar stability and controlling delivery of chemo drugs: An effective combination drug delivery platform for cancer therapy. 62
35882161 2022
26
A David and Goliath set-up: a qualitative study of the challenges of ensuring the introduction of cost-effective new cancer medicines in Finland. 62
36038900 2022
27
Preclinical safety of negatively charged microspheres (NCMs): Optimization of radiolabeling for in vivo and ex vivo biodistribution studies after topical administration on full-thickness wounds in a rat model. 62
35697288 2022
28
Managing the medical resources of a national insurance program: lessons based on China's NCMS. 62
35820951 2022
29
What fragile factors hinder the pace of China's alleviation efforts of the poverty-stricken population? A study from the perspective of impoverishment caused by medical expenses. 62
35906603 2022
30
Regulation of Magnetocaloric Effect in Ni40Co10Mn40Sn10 Alloys by Using a Homemade Uniaxial Strain Pressure Cell. 62
35744390 2022
31
Socio-economic inequalities in health service utilization among Chinese rural migrant workers with New Cooperative Medical Scheme: a multilevel regression approach. 62
35659640 2022
32
Effects of Co/Mn Content Variation on Structural and Electrochemical Properties of Single-Crystal Ni-Rich Layered Oxide Materials for Lithium Ion Batteries. 62
35588249 2022
33
Neurocutaneous melanosis with an intracranial cystic-solid meningeal melanoma in an adult: A case report and review of literature. 62
35801056 2022
34
Neurosurgical management of patients with neurocutaneous melanosis: a systematic review. 62
35535823 2022
35
Multifunctional Lanthanide-Doped Binary Fluorides and Graphene Oxide Nanocomposites Via a Task-Specific Ionic Liquid. 62
35647428 2022
36
Clinical and Histological Outcomes of Negatively Charged Polystyrene Microspheres Applied Daily Versus Three Times per Week in Hard-to-Heal Diabetic Foot Ulcers: A Randomized Blinded Controlled Trial. 62
35635201 2022
37
Public health insurance and enrollees' diet structure in rural China. 62
35620627 2022
38
Mitochondrial-Targeted Therapies Require Mitophagy to Prevent Oxidative Stress Induced by SOD2 Inactivation in Hypertrophied Cardiomyocytes. 62
35453408 2022
39
Inhibition of BKCa channels protects neonatal hearts against myocardial ischemia and reperfusion injury. 62
35393410 2022
40
Melanocytic lesions of the central nervous system: a case series. 62
35352754 2022
41
Nitrogen-doped biochar as peroxymonosulfate activator to degrade 2,4-dichlorophenol: Preparation, properties and structure-activity relationship. 62
34863564 2022
42
The State-of-the-Art Functionalized Nanomaterials for Carbon Dioxide Separation Membrane. 62
35207107 2022
43
Contextual influences on implementation of online behavioral obesity treatment in primary care: formative evaluation guided by the consolidated framework for implementation research. 62
34971381 2022
44
A Synergistic Effect of Na+ and Al3+ Dual Doping on Electrochemical Performance and Structural Stability of LiNi0.88Co0.08Mn0.04O2 Cathodes for Li-Ion Batteries. 62
35041400 2022
45
Single-Cell Analysis Reveals the Role of the Neuropeptide Receptor FPR2 in Monocytes in Kawasaki Disease: A Bioinformatic Study. 62
35692878 2022
46
Clinicopathological and surgical comparisons of differentiated thyroid cancer between China and the USA: A multicentered hospital-based study. 62
36249201 2022
47
Protein phosphatase 2A regulates xanthine oxidase-derived ROS production in macrophages and influx of inflammatory monocytes in a murine gout model. 62
36467056 2022
48
Non-cardiomyocytes in the heart in embryo development, health, and disease, a single-cell perspective. 62
36393852 2022
49
"I didn't feel like a number": The impact of nurse care managers on the provision of buprenorphine treatment in primary care settings. 62
34688496 2022
50
[An adult case of neurocutaneous melanosis with acute exacerbation after a long asymptomatic period following excision of a melanocytic nevus]. 62
34789628 2021

Variations for Melanosis, Neurocutaneous

ClinVar genetic disease variations for Melanosis, Neurocutaneous:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic
73058 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
2 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic
13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908

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

73
# Symbol AA change Variation ID SNP ID
1 NRAS p.Gln61Lys VAR_006846 rs121913254
2 NRAS p.Gln61Arg VAR_006847 rs11554290

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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