MCID: GNT020
MIFTS: 46

Giant Congenital Nevus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Giant Congenital Nevus

MalaCards integrated aliases for Giant Congenital Nevus:

Name: Giant Congenital Nevus 53
Giant Pigmented Hairy Nevus 53 25 73
Giant Congenital Melanocytic Nevus 53 25
Congenital Giant Melanocytic Nevus 29 6
Gphn 53 25
Congenital Giant Pigmented Nevus of Skin 25
Congenital Melanocytic Nevus Syndrome 25
Large Congenital Melanocytic Nevus 53
Giant Congenital Melanocytic Nevi 25
Giant Congenital Pigmented Nevus 25
Congenital Giant Pigmented Nevus 53
Congenital Hairy Nevus 53
Giant Pigmented Nevus 53
Bathing Trunk Nevus 53
Giant Hairy Nevus 53
Gmn 25

Classifications:



Summaries for Giant Congenital Nevus

NIH Rare Diseases : 53 A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may have no other symptoms or may have several symptoms such as fragile, dry, or itchy skin. In about 5% to 10% of the cases the giant congenital nevus is associated with neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord) and is characterized by neurological symptoms. They also have an increased risk of developing malignant melanoma, a type of skin cancer, especially if the nevus is localized in the vertebral column or when there are multiple associated lesions (satellites). Whenever possible, treatment includes surgery to remove the nevus. In other cases other treatment such as dermabrasion, shaving or facial excision, chemical peels and laser can be done. In most cases, when there are no neurological problems, the prognosis is good, but it is necessary for the lesions to be examined regularly.

MalaCards based summary : Giant Congenital Nevus, also known as giant pigmented hairy nevus, is related to melanocytic nevus syndrome, congenital and nevus, epidermal. An important gene associated with Giant Congenital Nevus is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are 4-1BB Pathway and Regulation of actin cytoskeleton. Affiliated tissues include skin, spinal cord and brain, and related phenotypes are hydrocephalus and pruritus

Genetics Home Reference : 25 Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth. The nevus may be small in infants, but it will usually grow at the same rate the body grows and will eventually be at least 40 cm (15.75 inches) across. The nevus can appear anywhere on the body, but it is more often found on the trunk or limbs. The color ranges from tan to black and can become darker or lighter over time. The surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface can vary in different regions of the nevus, and it can change over time. The skin of the nevus is often dry and prone to irritation and itching (dermatitis). Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body.

Wikipedia : 76 The congenital melanocytic nevus is a type of melanocytic nevus (or mole) found in infants at birth.... more...

Related Diseases for Giant Congenital Nevus

Diseases related to Giant Congenital Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 31.6 HRAS NRAS
2 nevus, epidermal 29.5 HRAS NRAS
3 molybdenum cofactor deficiency, complementation group c 11.8
4 hyperekplexia 11.6
5 molybdenum cofactor deficiency 11.5
6 melanosis, neurocutaneous 10.2
7 melanoma 10.1
8 hypophosphatemic rickets, x-linked recessive 10.0
9 rickets 10.0
10 tièche-jadassohn nevus 9.9
11 arteriovenous malformation 9.9
12 diastematomyelia 9.9
13 benign struma ovarii 9.9 HRAS NRAS
14 schimmelpenning-feuerstein-mims syndrome 9.8 HRAS NRAS
15 ovarian melanoma 9.8 HRAS NRAS
16 malignant conjunctival melanoma 9.8 HRAS NRAS
17 melanomatosis 9.8 HRAS NRAS
18 marcus gunn phenomenon 9.8 HRAS NRAS
19 malignant struma ovarii 9.8 HRAS NRAS
20 myelodysplastic myeloproliferative cancer 9.8 HRAS NRAS
21 meningeal melanomatosis 9.8 HRAS NRAS
22 vulvar melanoma 9.8 HRAS NRAS
23 acneiform dermatitis 9.8 HRAS NRAS
24 malignant skin fibrous histiocytoma 9.8 HRAS NRAS
25 core binding factor acute myeloid leukemia 9.8 HRAS NRAS
26 liver angiosarcoma 9.8 HRAS NRAS
27 malignant dermis tumor 9.8 HRAS NRAS
28 central nervous system melanocytic neoplasm 9.8 HRAS NRAS
29 integumentary system cancer 9.8 HRAS NRAS
30 ovarian serous cystadenocarcinoma 9.8 HRAS NRAS
31 melanoma, cutaneous malignant 1 9.8 HRAS NRAS
32 renal cell carcinoma, papillary, 1 9.7 HRAS NRAS
33 differentiated thyroid carcinoma 9.7 HRAS NRAS
34 cell type cancer 9.7 HRAS NRAS
35 thyroid cancer 9.7
36 cutaneous ganglioneuroma 9.7
37 neurofibrosarcoma 9.7
38 ganglioneuroma 9.7
39 plexiform neurofibroma 9.7
40 malignant peripheral nerve sheath tumor 9.7
41 thyroiditis 9.7
42 neurofibroma 9.7
43 mills syndrome 9.7
44 autoimmune lymphoproliferative syndrome 9.7 HRAS NRAS
45 bladder urothelial carcinoma 9.7 HRAS NRAS
46 noonan syndrome 1 9.7 HRAS NRAS
47 thyroid cancer, nonmedullary, 2 9.7 HRAS NRAS
48 skin melanoma 9.7 HRAS NRAS
49 myeloma, multiple 9.6 HRAS NRAS
50 leukemia, chronic myeloid 9.6 HRAS NRAS

Graphical network of the top 20 diseases related to Giant Congenital Nevus:



Diseases related to Giant Congenital Nevus

Symptoms & Phenotypes for Giant Congenital Nevus

Human phenotypes related to Giant Congenital Nevus:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 occasional (7.5%) HP:0000238
2 pruritus 32 occasional (7.5%) HP:0000989
3 hypopigmented skin patches 32 occasional (7.5%) HP:0001053
4 seizures 32 occasional (7.5%) HP:0001250
5 subcutaneous nodule 32 occasional (7.5%) HP:0001482
6 generalized hirsutism 32 frequent (33%) HP:0002230
7 rhabdomyosarcoma 32 occasional (7.5%) HP:0002859
8 congenital giant melanocytic nevus 32 hallmark (90%) HP:0005600
9 cutaneous melanoma 32 occasional (7.5%) HP:0012056

GenomeRNAi Phenotypes related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.56 NRAS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.56 NRAS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.56 HRAS NRAS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.56 HRAS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.56 NRAS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.56 HRAS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.56 HRAS
8 Decreased viability GR00055-A-2 9.23 HRAS
9 Decreased viability GR00221-A-1 9.23 HRAS NRAS
10 Decreased viability GR00221-A-2 9.23 HRAS
11 Decreased viability GR00221-A-3 9.23 HRAS NRAS
12 Decreased viability GR00402-S-2 9.23 HRAS NRAS

Drugs & Therapeutics for Giant Congenital Nevus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of a Nanofat-seeded Biological Scaffold in Healing Lower Limb Surgical Defects Not yet recruiting NCT03548610 Phase 2, Phase 3
2 Autologous Engineered Skin Substitutes for Closure of Skin Wounds Terminated NCT00591513 Phase 2, Phase 3
3 Natural History Study of Moles and Suspicious Melanoma Completed NCT00288938

Search NIH Clinical Center for Giant Congenital Nevus

Genetic Tests for Giant Congenital Nevus

Genetic tests related to Giant Congenital Nevus:

# Genetic test Affiliating Genes
1 Congenital Giant Melanocytic Nevus 29 HRAS NRAS

Anatomical Context for Giant Congenital Nevus

MalaCards organs/tissues related to Giant Congenital Nevus:

41
Skin, Spinal Cord, Brain, Thyroid

Publications for Giant Congenital Nevus

Articles related to Giant Congenital Nevus:

(show all 23)
# Title Authors Year
1
Treating Giant Congenital Nevus With Integra Dermal Regeneration Template in a 9-Year-Old Girl. ( 28682723 )
2017
2
Malignant Melanoma in Association With a Thymic Nevus in a Patient With a Giant Congenital Nevus. ( 28033154 )
2016
3
Impressive pseudotumoral proliferative nodules in a giant congenital nevus of a newborn. ( 22958141 )
2013
4
A rare association of congenital lumbar hernia and giant congenital nevus. ( 22648191 )
2013
5
Giant congenital nevus associated with papillary thyroid cancer: the first case report. ( 23968452 )
2013
6
Giant congenital nevus with plexiform neurofibroma and malignant peripheral nerve sheath tumor. ( 22413842 )
2012
7
Wells on natural selection: right for the wrong reason--described a giant congenital nevus. ( 22256630 )
2011
8
Images in clinical medicine. Giant congenital nevus. ( 19726769 )
2009
9
Treatment of giant congenital nevus of the back by convergent serial excision. ( 18837711 )
2008
10
Desmoplastic giant congenital nevus with progressive depigmentation. ( 17097364 )
2007
11
A giant congenital nevus spilus in an 8-year-old girl. ( 17142204 )
2006
12
Cutaneous ganglioneuroma within a giant congenital nevus. ( 24223002 )
2005
13
Congenital giant melanocytic nevus with pigmented epithelioid cells: a variant of epithelioid blue nevus. ( 11803278 )
2002
14
Giant congenital nevus with progressive sclerodermoid reaction in a newborn. ( 11576407 )
2001
15
A newborn with nodular ulcerated lesion on a giant congenital nevus. ( 10990581 )
2000
16
Poliosis associated with a giant congenital nevus. ( 10411174 )
1999
17
Giant congenital nevus. ( 10829894 )
1995
18
Very late metastasis (27 years) of cutaneous malignant melanoma arising in a halo giant congenital nevus. ( 8075446 )
1994
19
Chromosomal findings in cultured melanocytes from a giant congenital nevus. ( 8330286 )
1993
20
Giant congenital nevus and chronic progressive ascending hemiparesis (Mills syndrome). Report of a case. ( 1624284 )
1992
21
Giant congenital nevus and malignant melanoma. ( 2715664 )
1989
22
Giant congenital nevus and melanoma. ( 3716969 )
1986
23
Giant congenital nevus as a basis for the development of malignant melanoma. ( 4036470 )
1985

Variations for Giant Congenital Nevus

ClinVar genetic disease variations for Giant Congenital Nevus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
2 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh38 Chromosome 1, 114716124: 114716124
3 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
4 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
5 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
6 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
7 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
8 46;X;inv(X)(q26q28)dn inversion Uncertain significance

Expression for Giant Congenital Nevus

Search GEO for disease gene expression data for Giant Congenital Nevus.

Pathways for Giant Congenital Nevus

Pathways related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 HRAS NRAS
2 12.32 HRAS NRAS
3
Show member pathways
12.29 HRAS NRAS
4
Show member pathways
12.29 HRAS NRAS
5
Show member pathways
12.28 HRAS NRAS
6
Show member pathways
12.27 HRAS NRAS
7
Show member pathways
12.24 HRAS NRAS
8
Show member pathways
12.23 HRAS NRAS
9 12.23 HRAS NRAS
10
Show member pathways
12.21 HRAS NRAS
11
Show member pathways
12.2 HRAS NRAS
12
Show member pathways
12.19 HRAS NRAS
13
Show member pathways
12.16 HRAS NRAS
14
Show member pathways
12.16 HRAS NRAS
15
Show member pathways
12.16 HRAS NRAS
16
Show member pathways
12.15 HRAS NRAS
17
Show member pathways
12.15 HRAS NRAS
18
Show member pathways
12.14 HRAS NRAS
19
Show member pathways
12.14 HRAS NRAS
20 12.14 HRAS NRAS
21
Show member pathways
12.13 HRAS NRAS
22
Show member pathways
12.12 HRAS NRAS
23
Show member pathways
12.11 HRAS NRAS
24
Show member pathways
12.08 HRAS NRAS
25
Show member pathways
12.06 HRAS NRAS
26
Show member pathways
12.05 HRAS NRAS
27
Show member pathways
12.03 HRAS NRAS
28 12.02 HRAS NRAS
29 12.02 HRAS NRAS
30
Show member pathways
12.01 HRAS NRAS
31
Show member pathways
11.97 HRAS NRAS
32
Show member pathways
11.97 HRAS NRAS
33 11.95 HRAS NRAS
34
Show member pathways
11.95 HRAS NRAS
35
Show member pathways
11.95 HRAS NRAS
36
Show member pathways
11.93 HRAS NRAS
37
Show member pathways
11.91 HRAS NRAS
38 11.91 HRAS NRAS
39
Show member pathways
11.9 HRAS NRAS
40 11.88 HRAS NRAS
41
Show member pathways
11.88 HRAS NRAS
42
Show member pathways
11.87 HRAS NRAS
43
Show member pathways
11.87 HRAS NRAS
44 11.83 HRAS NRAS
45
Show member pathways
11.82 HRAS NRAS
46 11.82 HRAS NRAS
47
Show member pathways
11.81 HRAS NRAS
48 11.79 HRAS NRAS
49
Show member pathways
11.78 HRAS NRAS
50
Show member pathways
11.78 HRAS NRAS

GO Terms for Giant Congenital Nevus

Biological processes related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.43 HRAS NRAS
2 leukocyte migration GO:0050900 9.4 HRAS NRAS
3 axon guidance GO:0007411 9.37 HRAS NRAS
4 Fc-epsilon receptor signaling pathway GO:0038095 9.32 HRAS NRAS
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.26 HRAS NRAS
6 Ras protein signal transduction GO:0007265 9.16 HRAS NRAS
7 epidermal growth factor receptor signaling pathway GO:0007173 8.96 HRAS NRAS
8 ERBB2 signaling pathway GO:0038128 8.62 HRAS NRAS

Molecular functions related to Giant Congenital Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 8.62 HRAS NRAS

Sources for Giant Congenital Nevus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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