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NCMS
MCID: MLN073
MIFTS: 45

Melanosis, Neurocutaneous (NCMS)

Categories: 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 53 74 40
Neurocutaneous Melanosis 75 53 59 29 6 72
Neuromelanosis 57 74
Melanosis 44 72
Ncms 57 74
Neurocutaneous Melanosis, Somatic 57
Neurocutaneous Melanosis Syndrome 53
Neurocutaneous Melanocytosis 59
Melanosis Coli 72
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:
somatic mutation

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


HPO:

32
melanosis, neurocutaneous:
Clinical modifier death in infancy
Inheritance somatic mutation sporadic


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare skin diseases


External Ids:

OMIM 57 249400
MESH via Orphanet 45 C537387
ICD10 via Orphanet 34 D22.3 D22.4 D22.5 more
UMLS via Orphanet 73 C0544862
Orphanet 59 ORPHA2481
MedGen 42 C0544862
UMLS 72 C0025209 C0221391 C0544862
Sources

Summaries for Melanosis, Neurocutaneous

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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 universal acquired melanosis and becker nevus syndrome. An important gene associated with Melanosis, Neurocutaneous is NRAS (NRAS Proto-Oncogene, GTPase). The drugs Iron and Zinc oxide have been mentioned in the context of this disorder. 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 : 74 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 : 75 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 319)
# Related Disease Score Top Affiliating Genes
1 universal acquired melanosis 12.6
2 becker nevus syndrome 12.2
3 familial progressive hyperpigmentation 11.8
4 hyperpigmentation with or without hypopigmentation, familial progressive 11.8
5 peutz-jeghers syndrome 11.5
6 nevus of ota 11.5
7 laugier-hunziker syndrome 11.5
8 melanocytic nevus syndrome, congenital 11.4
9 acromelanosis 11.2
10 rapidly involuting congenital hemangioma 10.5
11 dowling-degos disease 1 10.5
12 malignant conjunctival melanoma 10.4
13 melanomatosis 10.4
14 lipomatosis, multiple 10.3
15 hydrocephalus, congenital, 1 10.3
16 pleomorphic lipoma 10.3
17 meningeal melanoma 10.3
18 meningeal melanomatosis 10.3
19 arachnoid cysts 10.3
20 tièche-jadassohn nevus 10.3
21 lentigines 10.3
22 constipation 10.3
23 adenoma 10.3
24 dandy-walker syndrome 10.3
25 hydrocephalus 10.3
26 meningeal melanocytoma 10.3
27 congenital hydrocephalus 10.3
28 epilepsy 10.3
29 diffuse leptomeningeal melanocytosis 10.3
30 conjunctival pigmentation 10.2
31 hypertrichosis 10.2
32 acral lentiginous melanoma 10.2
33 intestinal polyposis syndrome 10.2
34 syringomyelia, noncommunicating isolated 10.2
35 ataxia and polyneuropathy, adult-onset 10.2
36 visual epilepsy 10.2
37 obstructive hydrocephalus 10.2
38 communicating hydrocephalus 10.2
39 focal epilepsy 10.2
40 lipomatosis 10.2
41 syringomyelia 10.2
42 diffuse meningeal melanocytosis 10.2
43 neurofibroma 10.2
44 headache 10.2
45 seizure disorder 10.2
46 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
47 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
48 nodular malignant melanoma 10.1
49 malignant choroid melanoma 10.1
50 lichen planus 10.1

Sources

Symptoms & Phenotypes for Melanosis, Neurocutaneous

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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 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
4 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
5 numerous congenital melanocytic nevi 59 32 hallmark (90%) Very frequent (99-80%) HP:0005603
6 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
7 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
8 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
9 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
10 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
11 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
12 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
13 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
14 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
15 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
16 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
17 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
18 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
19 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
20 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
21 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
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 meningioma 32 occasional (7.5%) HP:0002858
27 arachnoid cyst 32 occasional (7.5%) HP:0100702
28 choroid plexus papilloma 32 occasional (7.5%) HP:0200022
29 neoplasm 59 Occasional (29-5%)
30 death in infancy 59 Occasional (29-5%)
31 melanocytic nevus 59 Very frequent (99-80%)
32 ventriculomegaly 59 Occasional (29-5%)
33 mental deterioration 32 HP:0001268

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
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 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
2
Zinc oxide Approved Phase 4 1314-13-2
3
Zinc Approved, Investigational Phase 4 7440-66-6 32051
4
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
5
Titanium dioxide Approved Phase 4 13463-67-7
6
Avobenzone Approved, Investigational Phase 4 70356-09-1
7
Glycolic acid Approved, Investigational Phase 4 79-14-1 757
8
Tranexamic Acid Approved Phase 4 1197-18-8 5526
9
Ethanol Approved Phase 4 64-17-5 702
10
Metformin Approved Phase 4 657-24-9 4091 14219
11
Hydroquinone Approved, Investigational Phase 4 123-31-9 785
12
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
13
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
14
Benzophenone Experimental Phase 4 119-61-9 3102
15 14-alpha Demethylase Inhibitors Phase 4
16 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
17 Cytochrome P-450 CYP3A Inhibitors Phase 4
18 Cytochrome P-450 Enzyme Inhibitors Phase 4
19 Steroid Synthesis Inhibitors Phase 4
20 Terephthalylidene dicamphor sulfonic acid Phase 4
21 octylmethoxycinnamate Phase 4
22 Photosensitizing Agents Phase 4
23 Pharmaceutical Solutions Phase 4
24 Dermatologic Agents Phase 4
25 Analgesics Phase 4
26 Salicylates Phase 4
27 Cyclooxygenase Inhibitors Phase 4
28 Anti-Infective Agents Phase 4
29 Anti-Inflammatory Agents, Non-Steroidal Phase 4
30 Peripheral Nervous System Agents Phase 4
31 Analgesics, Non-Narcotic Phase 4
32 Keratolytic Agents Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Antirheumatic Agents Phase 4
35 Coagulants Phase 4
36 Antifibrinolytic Agents Phase 4
37 Hemostatics Phase 4
38 Central Nervous System Depressants Phase 4
39 Anti-Infective Agents, Local Phase 4
40 Hypoglycemic Agents Phase 4
41 Antioxidants Phase 4
42 Protective Agents Phase 4
43 Radiation-Protective Agents Phase 4
44 Sunscreening Agents Phase 4
45 Hormone Antagonists Phase 4
46 Hormones Phase 4
47 glucocorticoids Phase 4
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
49 Tin Fluorides Phase 4
50
Azelaic acid Approved Phase 2, Phase 3 123-99-9 2266

Interventional clinical trials:

(show top 50) (show all 82)
# 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 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
3 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%
4 Treatment of Melasma With Jessner's Solution vs. Trichloroacetic Acid: A Comparison of Clinical Efficacy Completed NCT00166192 Phase 4
5 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
6 A Clinical Usage Study to Evaluate the Safety and Efficacy of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
7 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
8 Comparison of Two Tri-Luma® Maintenance Regimens in the Treatment of Melasma Completed NCT00500162 Phase 4
9 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
10 The Efficacy of Oral Tranexamic Acid and a 1927 nm Diode Laser in Patients With Melasma. A Prospective Randomized Split Face Study Recruiting NCT03686787 Phase 4 Tranexamic Acid
11 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
12 THE METFORMIN AND TRICHLOROACETIC ACID IN TREATMENT OF MELASMA Not yet recruiting NCT03475524 Phase 4 MetFORMIN 1000 Mg Oral Tablet;Placebos;Trichloroacetic Acid Peeling;MetFORMIN 500 Mg Oral Tablet
13 Different Dermatological Approaches in Treatment of Melasma: A Split Face Randomized Clinical Trial Not yet recruiting NCT03923062 Phase 4
14 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 Not yet recruiting NCT03153852 Phase 4 Modified Jessner's solution;Glycolic acid;Trichloroacetic acid
15 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
16 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
17 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
18 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
19 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
20 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
21 Efficacy of Melanil in the Treatment of Melasma Completed NCT01001624 Phase 3
22 Evaluation of the Therapeutic Effect of Platelet Rich Plasma in Melasma Recruiting NCT03308370 Phase 3
23 Effectiveness and Safety of Isobutylamido-thiazolyl-resorcinol Cream 0.2% for Melasma and Facial Hyperpigmentation, A Randomized Double-blind and Vehicle-Controlled Study Recruiting NCT03926845 Phase 3 Isobutylamido-thiazolyl-resorcinol Cream 0.2%;Vehicle
24 Relevance of Imiquimod as Neo-adjuvant Treatment to Reduce Excision Size and the Risk of Intralesional Excision in Lentigo Malignant of the Face Active, not recruiting NCT01720407 Phase 3 Imiquimod cream + surgery;Placebo + surgery
25 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 Not yet recruiting NCT03585179 Phase 3 Oral Tranexamic Acid;5% topical tranexamic acid;4% hydroquinone
26 Evaluation of the Therapeutic Effect of Platelet Rich Plasma (PRP) in Periorbital Hyperpigmentation(POH) Not yet recruiting NCT03862118 Phase 3
27 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
28 A Clinical Standardization Study of the Preferred Acupuncture Treatment Protocol to Treat Functional Constipation Completed NCT00508482 Phase 2 Lactulose
29 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
30 Randomized, Open Label Trial of Iron and Folic Acid on Change of Fungal Pattern Completed NCT02908581 Phase 2 Placebo;Iron 150 mg and Folic acid 0.5 mg
31 Efficacy of Platelet-rich Plasma in Treatment of Melasma Completed NCT03674203 Phase 2
32 Effect of Solanum Melongena Extract in the Treatment of Arsenical Skin Lesion Completed NCT03127670 Phase 2 Solanum melongena peel extract 0.05%
33 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
34 Randomized, Open Label Trial of Vitamin E on Change of Aerobic Bacterial Pattern Completed NCT02468518 Phase 2 Vitamin E capsule
35 Identification of Compound Isolated From Cock's Comb and Its Effect on Arsenical Palmar Keratosis Recruiting NCT03635853 Phase 2 drug containing extract from cock's comb
36 Effects of Antimicrobials on the Altered Skin Flora in Patients With Palmar Arsenical Keratosis Recruiting NCT03632733 Phase 2 Tetracycline;Clotrimazole;Tetracycline and Clotrimazole
37 Comparison of Topical Silymarin With Hydroquinone in the Treatment of Melasma Not yet recruiting NCT03982849 Phase 2 Hydroquinone 4% Cream;silymarin 0.7% cream
38 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
39 Spironolactone for the Treatment of Melasma: a Prospective, Open-label Proof-of-concept and Dose-ranging Study Not yet recruiting NCT03953209 Phase 1 Spironolactone 50Mg Tablet;Spironolactone 100Mg Tablet;Spironolactone 200Mg
40 Tri-split Face Study of Skin Resurfacing Modalities for the Treatment of Melasma Not yet recruiting NCT02892071 Phase 1 22% TCA peel
41 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
42 Interest of the Confocal Microscope in the Diagnosis of Epidermoid Carcinoma of the Vulva and Their Precursors Unknown status NCT02735109
43 Using Impression Cytology to Observe the Cytological Changes of Ocular Surface Cells in Various Ocular Surface Disorders Unknown status NCT01387971
44 A Study of the RevLite Laser System for the Treatment of Refractory Mixed Type Melasma Completed NCT02110134
45 A Study of the RevLite Q-Switched Nd:YAG Laser System With Smart Infinite (SI) Handpiece for the Treatment of Refractory Mixed Type Melasma Completed NCT01335581
46 A Randomized, Split-Face, Double-Blind Clinical Pilot Study of Combination Picosecond Alexandrite Laser and Non-Hydroquinone Topical Therapy Versus Topical Therapy Alone for the Treatment of Facial Melasma Completed NCT02095756
47 Revlite Laser System Compared to the Candela Alex TriVantage System Refractory Mixed Type Melasma Completed NCT01745224
48 A Randomized, Rater-blinded, Split-face Comparison of the Efficacy of 30 % Salicylic Acid Peel vs. Q-switched Nd:Yag Laser for the Treatment of Melasma. Completed NCT00467233
49 Efficacy and Safety of Picosecond, Neodymium-doped Yttrium Aluminum Garnet Laser Laser Therapy Using 1,064 nm and 595 nm on Patients With Melasma: A Prospective, Multi-center, Split Face, 2% Hydroquinone Cream-controlled Clinical Trial Completed NCT03040089 Neoquine Cream 2%
50 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

Search NIH Clinical Center for Melanosis, Neurocutaneous

Cochrane evidence based reviews: melanosis

Sources

Genetic Tests for Melanosis, Neurocutaneous

About this section

Genetic tests related to Melanosis, Neurocutaneous:

# Genetic test Affiliating Genes
1 Neurocutaneous Melanosis 29 NRAS
Sources

Anatomical Context for Melanosis, Neurocutaneous

About this section

MalaCards organs/tissues related to Melanosis, Neurocutaneous:

41
Skin, Brain, Cerebellum, Spinal Cord, Amygdala, Pons, Bone
Sources

Publications for Melanosis, Neurocutaneous

About this section

Articles related to Melanosis, Neurocutaneous:

(show top 50) (show all 279)
# Title Authors PMID Year
1
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 38 8 71
23392294 2013
2
Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children. 38 8
11252085 2001
3
MR of parenchymal neurocutaneous melanosis. 38 8
7793388 1995
4
Neurocutaneous melanosis with malignant leptomeningeal melanoma. A case with metastases outside the nervous system. 38 8
1180728 1975
5
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 71
24006476 2014
6
Neurocutaneous melanocytosis. 38 6
23622187 2013
7
Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. 8
22469364 2012
8
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 71
22499344 2012
9
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 71
18633438 2009
10
Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice. 8
18671780 2008
11
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 71
12727991 2003
12
GIANT PIGMENTED NEVI, MELANOMA, AND LEPTOMENINGEAL MELANOCYTOSIS: A CLINICAL AND HISTOPATHOLOGICAL STUDY. 8
14237589 1965
13
PRIMARY MENINGEAL MELANOSIS. A CLINICO-PATHOLOGICAL REPORT OF TWO CASES. 8
14276523 1965
14
NEURO-CUTANEOUS MELANOSIS. 8
14223666 1964
15
Protocol for the development of core set of domains of the core outcome set for patients with Congenital Melanocytic Nevi (OCOMEN project). 38
31419337 2019
16
Malignant transformation of neurocutaneous melanosis (NCM) following immunosuppression. 38
30868657 2019
17
Diagnostic and therapeutic approach for neurocutaneous melanosis in a young adult. 38
27939117 2019
18
Melanoma arising in a Giant congenital melanocytic nevus: two case reports. 38
30782194 2019
19
Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation. 38
30792691 2019
20
Aggressive Primary Pediatric Intracranial Malignant Melanoma: Sphinx of the Tissue Diagnosis. 38
30937053 2019
21
Shunt Surgery for Neurocutaneous Melanosis with Hydrocephalus: Case Report and Review of the Literature. 38
30205217 2018
22
New insights into neurocutaneous melanosis. 38
30074086 2018
23
NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called "forme fruste" of neurocutaneous melanosis. 38
30145692 2018
24
Neurocutaneous Melanosis with Leptomeningeal Melanoma Involving Supratentorium and Infratentorium. 38
30443446 2018
25
Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. 38
29948137 2018
26
Neurocutaneous Melanosis with Bilateral Temporal Lobe Lesions without Leptomeningeal Enhancement: A Distinct Entity or Subtype. 38
30271467 2018
27
Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature. 38
29530698 2018
28
Giant congenital melanocytic nevus in a Cameroonian child: a case report. 38
29933750 2018
29
Keratinocyte Sonic Hedgehog Upregulation Drives the Development of Giant Congenital Nevi via Paracrine Endothelin-1 Secretion. 38
29138054 2018
30
Giant Congenital Melanocytic Nevi: An Update and Emerging Therapies. 38
29515391 2018
31
CSF cytology diagnosis of NRAS-mutated primary leptomeningeal melanomatosis with neurocutaneous melanosis. 38
27696542 2017
32
Neurocutaneous Melanosis Presenting as Cavernous Hemangioma Persistent Abdominal Pain. 38
27792104 2017
33
Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis. 38
27002302 2017
34
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis. 38
27988846 2017
35
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma. 38
27933403 2017
36
Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets. 38
27900779 2017
37
Supratentorial intermediate grade meningeal melanocytoma with intratumoral bleed in the background of neurocutaneous melanosis: Report of an unusual case and review of literature. 38
28413547 2017
38
Subcutaneous melanocytoma mimicking a lipoma: a rare presentation of a rare neoplasm with histological, immunohistochemical, cytogenetic and molecular characterization. 38
27573466 2016
39
Neurocutaneous Melanosis Associated with Prenatally Diagnosed Arachnoid Cyst. 38
27978592 2016
40
Neurocutaneous melanosis. 38
28057974 2016
41
Primary Amelanotic Leptomeningeal Melanomatosis in a Child: A Rare but Severe Disease. 38
27319310 2016
42
Melanocytic Nevi in Children: A Review. 38
27517357 2016
43
Age related changes in brain MR appearance in the course of neurocutaneous melanosis. 38
27423683 2016
44
Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas. 38
27857802 2016
45
Early diagnosis of asymptomatic neurocutaneous melanosis (60 month follow-up). 38
26762599 2016
46
Giant congenital melanocytic nevus in a bulgarian newborn. 38
27373137 2016
47
Medium-sized congenital melanocytic nevus of the forehead, glabella and temple – surgical treatment and long-term follow-up. 38
27373136 2016
48
Sonographic and magnetic resonance imaging findings of neurocutaneous melanosis. 38
26973729 2016
49
Mystery Case: Neurocutaneous melanosis with diffuse leptomeningeal malignant melanoma in an adult. 38
26903493 2016
50
Multifocal melanocytoma of the posterior fossa and subcutaneous scalp in the absence of neurocutaneous melanosis. 38
27656317 2016
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Variations for Melanosis, Neurocutaneous

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ClinVar genetic disease variations for Melanosis, Neurocutaneous:

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

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

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# 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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