MCID: GNT020
MIFTS: 31

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 49
Giant Pigmented Hairy Nevus 49 24 69
Giant Congenital Melanocytic Nevus 49 24
Gphn 49 24
Congenital Giant Pigmented Nevus of Skin 24
Congenital Melanocytic Nevus Syndrome 24
Large Congenital Melanocytic Nevus 49
Congenital Giant Melanocytic Nevus 28
Giant Congenital Melanocytic Nevi 24
Giant Congenital Pigmented Nevus 24
Congenital Giant Pigmented Nevus 49
Congenital Hairy Nevus 49
Giant Pigmented Nevus 49
Bathing Trunk Nevus 49
Giant Hairy Nevus 49
Gmn 24

Classifications:



Summaries for Giant Congenital Nevus

NIH Rare Diseases : 49 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. Last updated: 12/11/2017

MalaCards based summary : Giant Congenital Nevus, also known as giant pigmented hairy nevus, is related to melanosis, neurocutaneous and molybdenum cofactor deficiency, and has symptoms including hydrocephalus, pruritus and hypopigmented skin patches. Affiliated tissues include skin, spinal cord and brain.

Genetics Home Reference : 24 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 : 72 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 all 18)
# Related Disease Score Top Affiliating Genes
1 melanosis, neurocutaneous 11.6
2 molybdenum cofactor deficiency 11.5
3 hyperekplexia 11.5
4 melanocytic nevus syndrome, congenital 11.3
5 molybdenum cofactor deficiency, complementation group c 11.3
6 melanoma 10.1
7 hypophosphatemic rickets, x-linked recessive 10.0
8 rickets 10.0
9 nevus, epidermal 9.9
10 diastematomyelia 9.9
11 thyroid cancer 9.7
12 cutaneous ganglioneuroma 9.7
13 ganglioneuroma 9.7
14 plexiform neurofibroma 9.7
15 malignant peripheral nerve sheath tumor 9.7
16 thyroiditis 9.7
17 neurofibroma 9.7
18 mills syndrome 9.7

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 occasional (7.5%) HP:0000238
2 pruritus 31 occasional (7.5%) HP:0000989
3 hypopigmented skin patches 31 occasional (7.5%) HP:0001053
4 seizures 31 occasional (7.5%) HP:0001250
5 subcutaneous nodule 31 occasional (7.5%) HP:0001482
6 generalized hirsutism 31 frequent (33%) HP:0002230
7 rhabdomyosarcoma 31 occasional (7.5%) HP:0002859
8 congenital giant melanocytic nevus 31 hallmark (90%) HP:0005600
9 cutaneous melanoma 31 occasional (7.5%) HP:0012056

Drugs & Therapeutics for Giant Congenital Nevus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autologous Engineered Skin Substitutes for Closure of Skin Wounds Terminated NCT00591513 Phase 2, Phase 3
2 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 28

Anatomical Context for Giant Congenital Nevus

MalaCards organs/tissues related to Giant Congenital Nevus:

38
Skin, Spinal Cord, Brain, Thyroid

Publications for Giant Congenital Nevus

Articles related to Giant Congenital Nevus:

(show all 22)
# 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
Giant congenital nevus associated with papillary thyroid cancer: the first case report. ( 23968452 )
2013
4
A rare association of congenital lumbar hernia and giant congenital nevus. ( 22648191 )
2013
5
Impressive pseudotumoral proliferative nodules in a giant congenital nevus of a newborn. ( 22958141 )
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
Giant congenital nevus with progressive sclerodermoid reaction in a newborn. ( 11576407 )
2001
14
A newborn with nodular ulcerated lesion on a giant congenital nevus. ( 10990581 )
2000
15
Poliosis associated with a giant congenital nevus. ( 10411174 )
1999
16
Giant congenital nevus. ( 10829894 )
1995
17
Very late metastasis (27 years) of cutaneous malignant melanoma arising in a halo giant congenital nevus. ( 8075446 )
1994
18
Chromosomal findings in cultured melanocytes from a giant congenital nevus. ( 8330286 )
1993
19
Giant congenital nevus and chronic progressive ascending hemiparesis (Mills syndrome). Report of a case. ( 1624284 )
1992
20
Giant congenital nevus and malignant melanoma. ( 2715664 )
1989
21
Giant congenital nevus and melanoma. ( 3716969 )
1986
22
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.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
3 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913254 GRCh37 Chromosome 1, 115256530: 115256530

Expression for Giant Congenital Nevus

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

Pathways for Giant Congenital Nevus

GO Terms for Giant Congenital Nevus

Sources for Giant Congenital Nevus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....