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NCMS
MCID: MLN073
MIFTS: 45

Melanosis, Neurocutaneous (NCMS)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Melanosis, Neurocutaneous

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MalaCards integrated aliases for Melanosis, Neurocutaneous:

Name: Melanosis, Neurocutaneous 57 20 73 39
Neurocutaneous Melanosis 74 20 58 71
Neurocutaneous Melanocytosis 58 29 6
Neuromelanosis 57 73
Melanosis 44 71
Ncms 57 73
Neurocutaneous Melanosis, Somatic 57
Neurocutaneous Melanosis Syndrome 20
Melanosis Coli 71
Ncm 58

Characteristics:

Orphanet epidemiological data:

58
neurocutaneous melanocytosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
somatic mutation

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


HPO:

31
melanosis, neurocutaneous:
Onset and clinical course death in infancy
Inheritance somatic mutation sporadic


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Sources

Summaries for Melanosis, Neurocutaneous

About this section
GARD : 20 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 universal acquired melanosis and familial progressive hyperpigmentation. An important gene associated with Melanosis, Neurocutaneous is NRAS (NRAS Proto-Oncogene, GTPase). The drugs Azelaic acid and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, spinal cord and amygdala, and related phenotypes are intellectual disability and numerous congenital melanocytic nevi

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 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 : 74 Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital... more...

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Related Diseases for Melanosis, Neurocutaneous

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

(show top 50) (show all 307)
# Related Disease Score Top Affiliating Genes
1 universal acquired melanosis 11.3
2 familial progressive hyperpigmentation 11.2
3 hyperpigmentation with or without hypopigmentation, familial progressive 11.2
4 large congenital melanocytic nevus 11.2
5 becker nevus syndrome 11.1
6 melanocytic nevus syndrome, congenital 11.1
7 peutz-jeghers syndrome 11.0
8 laugier-hunziker syndrome 10.9
9 acromelanosis 10.9
10 hydrocephalus 10.8
11 melanoma 10.7
12 dowling-degos disease 1 10.5
13 intracranial hypertension 10.4
14 malignant conjunctival melanoma 10.4
15 melanomatosis 10.3
16 rapidly involuting congenital hemangioma 10.3
17 lipomatosis, multiple 10.3
18 dandy-walker syndrome 10.3
19 pleomorphic lipoma 10.3
20 meningeal melanoma 10.3
21 meningeal melanomatosis 10.3
22 tièche-jadassohn nevus 10.3
23 lentigines 10.3
24 constipation 10.2
25 arachnoid cysts, intracranial 10.2
26 meningeal melanocytoma 10.2
27 skin melanoma 10.2
28 nevus of ota 10.2
29 conjunctival pigmentation 10.2
30 diffuse leptomeningeal melanocytosis 10.2
31 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
32 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
33 acral lentiginous melanoma 10.1
34 intestinal polyposis syndrome 10.1
35 syringomyelia, noncommunicating isolated 10.1
36 ocular motor apraxia 10.1
37 ataxia and polyneuropathy, adult-onset 10.1
38 encephalocraniocutaneous lipomatosis 10.1
39 obstructive hydrocephalus 10.1
40 communicating hydrocephalus 10.1
41 focal epilepsy 10.1
42 lipomatosis 10.1
43 syringomyelia 10.1
44 diffuse meningeal melanocytosis 10.1
45 neurofibroma 10.1
46 contact dermatitis 10.1
47 lichen planus 10.1
48 melanoma, uveal 10.1
49 nodular malignant melanoma 10.1
50 keratosis 10.1

Sources

Symptoms & Phenotypes for Melanosis, Neurocutaneous

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Human phenotypes related to Melanosis, Neurocutaneous:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 numerous congenital melanocytic nevi 58 31 hallmark (90%) Very frequent (99-80%) HP:0005603
3 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
4 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
5 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
6 seizure 31 hallmark (90%) HP:0001250
7 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
8 encephalitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002383
9 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
10 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
11 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
12 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
13 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
14 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
15 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
16 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
17 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
18 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
19 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
20 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
21 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
22 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
23 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
24 hydrocephalus 31 occasional (7.5%) HP:0000238
25 global developmental delay 31 occasional (7.5%) HP:0001263
26 meningioma 31 occasional (7.5%) HP:0002858
27 choroid plexus papilloma 31 occasional (7.5%) HP:0200022
28 arachnoid cyst 31 occasional (7.5%) HP:0100702
29 seizures 58 Very frequent (99-80%)
30 melanocytic nevus 58 Very frequent (99-80%)
31 neoplasm 58 Occasional (29-5%)
32 death in infancy 58 Occasional (29-5%)
33 ventriculomegaly 58 Occasional (29-5%)
34 mental deterioration 31 HP:0001268

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

Sources

Drugs & Therapeutics for Melanosis, Neurocutaneous

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

(show top 50) (show all 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azelaic acid Approved Phase 4 123-99-9 2266
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Glycolic acid Approved, Investigational Phase 4 79-14-1 757
5
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
6
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
7
Zinc oxide Approved Phase 4 1314-13-2
8
Zinc Approved, Investigational Phase 4 7440-66-6 32051
9
Avobenzone Approved, Investigational Phase 4 70356-09-1
10
Titanium dioxide Approved Phase 4 13463-67-7
11
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
12
Iron Approved Phase 4 7439-89-6 23925 29936
13
Metformin Approved Phase 4 657-24-9 14219 4091
14
Tranexamic Acid Approved Phase 4 1197-18-8 5526
15
Ethanol Approved Phase 4 64-17-5 702
16
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
17
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
18
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
19
Benzophenone Experimental Phase 4 119-61-9 3102
20 Antifungal Agents Phase 4
21 Anti-Infective Agents Phase 4
22 Cytochrome P-450 Enzyme Inhibitors Phase 4
23 Cytochrome P-450 CYP3A Inhibitors Phase 4
24 Disinfectants Phase 4
25 Antibiotics, Antitubercular Phase 4
26 Chlorhexidine gluconate Phase 4
27 Anti-Infective Agents, Local Phase 4
28 Anti-Bacterial Agents Phase 4
29 Pharmaceutical Solutions Phase 4
30 octylmethoxycinnamate Phase 4
31 Terephthalylidene dicamphor sulfonic acid Phase 4
32 Photosensitizing Agents Phase 4
33 Hypoglycemic Agents Phase 4
34 Analgesics Phase 4
35 Hemostatics Phase 4
36 Coagulants Phase 4
37 Antifibrinolytic Agents Phase 4
38 Protective Agents Phase 4
39 Radiation-Protective Agents Phase 4
40 Antioxidants Phase 4
41 Dermatologic Agents Phase 4
42 Anti-Inflammatory Agents Phase 4
43 Keratolytic Agents Phase 4
44 Sunscreening Agents Phase 4
45 Tin Fluorides Phase 4
46 glucocorticoids Phase 4
47
Coal tar Approved Phase 3 8007-45-2
48
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
49
Selenious acid Approved, Investigational Phase 3 7783-00-8
50
Triamcinolone Approved, Vet_approved Phase 2, Phase 3 124-94-7 31307

Interventional clinical trials:

(show top 50) (show all 94)
# 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 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
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 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
5 Soft and Hard Tissue Stability After Immediate Tooth Replacement With Implant in Fresh Sockets Grafted With Different Soft Tissue Grafts Completed NCT02922075 Phase 4 Post operative medication
6 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
7 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%
8 Treatment of Melasma With Jessner's Solution vs. Trichloroacetic Acid: A Comparison of Clinical Efficacy Completed NCT00166192 Phase 4
9 A Clinical Usage Study to Evaluate the Safety and Efficacy of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
10 Comparison of Two Tri-Luma® Maintenance Regimens in the Treatment of Melasma Completed NCT00500162 Phase 4
11 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
12 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
13 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
14 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Not yet recruiting NCT03923062 Phase 4
15 Comparing Tranexamic Acid Microinjection Alone Versus Its Combination With Fractional Carbon Dioxide Laser in Melasma Treatment Not yet recruiting NCT03899233 Phase 4 Tranexamic acid intradermal microinjections
16 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
17 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
18 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
19 Evaluation of the Therapeutic Effect of Platelet Rich Plasma in Melasma Unknown status NCT03308370 Phase 3
20 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
21 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
22 Improving Insulin Therapy With Enhanced Care Management and Peer Support Completed NCT00320112 Phase 3
23 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
24 Efficacy of Melanil in the Treatment of Melasma Completed NCT01001624 Phase 3
25 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
26 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
27 Evaluation of Fractional CO2 Laser and Tranexamic Acid in Treatment of Melasma:Clinical,Histopathological and Immunohistochemical Study Not yet recruiting NCT04599205 Phase 2, Phase 3 Tranexamic acid
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 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
30 Comparison of Topical Silymarin With Hydroquinone in the Treatment of Melasma Completed NCT03982849 Phase 2 Hydroquinone 4% Cream;silymarin 0.7% 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 Efficacy of Platelet-rich Plasma in Treatment of Melasma Completed NCT03674203 Phase 2
33 Comparative Study of mMASI Before and After Hyperthyroid Therapy in Hyperthyroid Subjects With Melasma Completed NCT04346901 Phase 1 Thiamazol
34 Comparative Study for the Treatment of Freckles by Intradermal Tranexamic Acid Versus Q Switched KTP Laser (532nm) Recruiting NCT03885895 Phase 1 Tranexamic Acid Injectable Product
35 Tri-split Face Study of Skin Resurfacing Modalities for the Treatment of Melasma Withdrawn NCT02892071 Phase 1 22% TCA peel
36 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
37 Evaluation of the Soft Tissue Stability Around Single Crowns Supported by Tissue Level Implants Placed in Non-augmented Healed Sites in the Anterior Maxilla: a Retrospective Study Unknown status NCT02061930
38 Immediate Implant Placement After Tooth Extraction in the Esthetic Zone: Extraction Socket Morphology-Guided Treatment Modalities and Esthetic Outcome Unknown status NCT01533571
39 The Efficacy of a Nurse-led Reminder Program on Therapy Adherence, Clinical Outcomes and Trust in Nurses in Diabetic Patients. Unknown status NCT02196272
40 The Efficacy of Melanostop Peel in Combination With Specifically Selected Home Care Regimen for Improvement of Melasma Unknown status NCT03826277
41 Combined Trichlotoaceticacid and Microneedle Versus Trichlroacetic Acid Alone in the Treatment of Melasma Unknown status NCT03472235
42 Oral Superoxide Dismutase (GLISODin) to Decrease Melasma Severity. A Prospective Randomized Placebo-controlled Study Unknown status NCT03878433 Glisodin
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 Efficacy and Safety of Fractional Carbon Dioxide Laser for Treatment of Facial Freckles Completed NCT01545869
45 Practice-Based Trial of Home BP Telemonitoring Among Minority Stroke Survivors Completed NCT02011685
46 Efficacy of a Nurse-led Reminder Program for the Management of the Risk Factors for Cardiovascular Diseases in Hypertensive Patients: a Randomized Controlled Trial Completed NCT01823588
47 Radiographic Evaluation of Marginal Bone Level, Buccal and Palatal Plate Thickness Alteration, and Implant Stability After Placement in Healed Ridges and Fresh Extraction Sockets: A 6 Months Prospective Study. Completed NCT04346706
48 The Effects of a Health-social Partnership Program for Discharged Non-frail Older Adults: a Pilot Study Completed NCT04434742
49 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
50 Marginal Bone Levels Around Implants With Definitive Abutments Of One and Three Millimeters: A One Year Of Follow Up Randomized Clinical Trial Completed NCT04230837

Search NIH Clinical Center for Melanosis, Neurocutaneous

Cochrane evidence based reviews: melanosis

Sources

Genetic Tests for Melanosis, Neurocutaneous

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Genetic tests related to Melanosis, Neurocutaneous:

# Genetic test Affiliating Genes
1 Neurocutaneous Melanocytosis 29 NRAS
Sources

Anatomical Context for Melanosis, Neurocutaneous

About this section

MalaCards organs/tissues related to Melanosis, Neurocutaneous:

40
Cerebellum, Spinal Cord, Amygdala, Pons, Skin, Bone, Thyroid
Sources

Publications for Melanosis, Neurocutaneous

About this section

Articles related to Melanosis, Neurocutaneous:

(show top 50) (show all 291)
# Title Authors PMID Year
1
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 6 57 61
23392294 2013
2
Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children. 57 61
11252085 2001
3
MR of parenchymal neurocutaneous melanosis. 57 61
7793388 1995
4
Neurocutaneous melanosis with malignant leptomeningeal melanoma. A case with metastases outside the nervous system. 57 61
1180728 1975
5
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 6
24006476 2014
6
Neurocutaneous melanocytosis. 20 61
23622187 2013
7
Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. 57
22469364 2012
8
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
9
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 6
18633438 2009
10
Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. 57
18671780 2008
11
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 6
12727991 2003
12
GIANT PIGMENTED NEVI, MELANOMA, AND LEPTOMENINGEAL MELANOCYTOSIS: A CLINICAL AND HISTOPATHOLOGICAL STUDY. 57
14237589 1965
13
PRIMARY MENINGEAL MELANOSIS. A CLINICO-PATHOLOGICAL REPORT OF TWO CASES. 57
14276523 1965
14
NEURO-CUTANEOUS MELANOSIS. 57
14223666 1964
15
Clinical Follow-Up of Patients with Neurocutaneous Melanosis in a Tertiary Center; Proposed Modification in Diagnostic Criteria. 61
33246180 2021
16
Neurocutaneous Melanosis: Prenatal Presentation as a Posterior Fossa Cyst. 61
33445188 2021
17
Lin28A/let-7 oncogenic circuit is a potential therapeutic target in neurocutaneous melanosis-associated CNS tumors in children. 61
33506207 2021
18
Symptomatic neurocutaneous melanosis: mild clinical onset in a teenager. 61
33257354 2020
19
Neurocutaneous Melanosis: Cutaneous and Neuroimaging Findings. 61
33342911 2020
20
Neurocutaneous melanocytosis (melanosis). 61
33048248 2020
21
Epilepsy in isolated parenchymal neurocutaneous melanosis: A systematic review. 61
32272368 2020
22
Neurocutaneous melanosis is not always a benign disease. 61
31512584 2020
23
Outcomes and measurement instruments used in congenital melanocytic naevi research: A systematic review. 61
31917187 2020
24
Serial 18F-FDG PET/CT findings in a patient with neurocutaneous melanosis. 61
32309039 2020
25
Protocol for the development of core set of domains of the core outcome set for patients with congenital melanocytic naevi (OCOMEN project). 61
31419337 2020
26
Neurocutaneous Melanosis in Infancy: Always a Dismal Prognosis? 61
32672341 2020
27
Primary pigmented meningeal melanocytoma originating in Meckel cave in a patient with carney complex: A case report. 61
32011473 2020
28
Neurocutaneous melanosis: a rare manifestation of congenital melanocytic nevus. 61
31473645 2019
29
Malignant transformation of neurocutaneous melanosis (NCM) following immunosuppression. 61
30868657 2019
30
Diagnostic and therapeutic approach for neurocutaneous melanosis in a young adult. 61
27939117 2019
31
Melanoma arising in a Giant congenital melanocytic nevus: two case reports. 61
30782194 2019
32
Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation. 61
30792691 2019
33
Giant congenital melanocytic nevi. 61
31769436 2019
34
Aggressive Primary Pediatric Intracranial Malignant Melanoma: Sphinx of the Tissue Diagnosis. 61
30937053 2019
35
Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature. 61
30205217 2018
36
New insights into neurocutaneous melanosis. 61
30074086 2018
37
NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called "forme fruste" of neurocutaneous melanosis. 61
30145692 2018
38
Neurocutaneous Melanosis with Leptomeningeal Melanoma Involving Supratentorium and Infratentorium. 61
30443446 2018
39
Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. 61
29948137 2018
40
Neurocutaneous Melanosis with Bilateral Temporal Lobe Lesions without Leptomeningeal Enhancement: A Distinct Entity or Subtype. 61
30271467 2018
41
Giant congenital melanocytic nevus in a Cameroonian child: a case report. 61
29933750 2018
42
Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature. 61
29530698 2018
43
Keratinocyte Sonic Hedgehog Upregulation Drives the Development of Giant Congenital Nevi via Paracrine Endothelin-1 Secretion. 61
29138054 2018
44
Giant Congenital Melanocytic Nevi: An Update and Emerging Therapies. 61
29515391 2018
45
CSF cytology diagnosis of NRAS-mutated primary leptomeningeal melanomatosis with neurocutaneous melanosis. 61
27696542 2017
46
Neurocutaneous Melanosis Presenting as Cavernous Hemangioma Persistent Abdominal Pain. 61
27792104 2017
47
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma. 61
27933403 2017
48
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis. 61
27988846 2017
49
Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis. 61
27002302 2017
50
Supratentorial intermediate grade meningeal melanocytoma with intratumoral bleed in the background of neurocutaneous melanosis: Report of an unusual case and review of literature. 61
28413547 2017
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Variations for Melanosis, Neurocutaneous

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ClinVar genetic disease variations for Melanosis, Neurocutaneous:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) SNV Pathogenic 73058 rs121913254 1:115256530-115256530 1:114713909-114713909
2 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 13900 rs11554290 1:115256529-115256529 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

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Expression for Melanosis, Neurocutaneous

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

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GO Terms for Melanosis, Neurocutaneous

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Sources for Melanosis, Neurocutaneous

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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