GMN
MCID: GNT020
MIFTS: 27

Giant Congenital Nevus (GMN) malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Giant Congenital Nevus

Aliases & Descriptions for Giant Congenital Nevus:

Name: Giant Congenital Nevus 50
Giant Congenital Melanocytic Nevus 50 25 29
Giant Pigmented Hairy Nevus 50 25 69
Gphn 50 25
Congenital Giant Pigmented Nevus of Skin 25
Congenital Melanocytic Nevus Syndrome 25
Large Congenital Melanocytic Nevus 50
Giant Congenital Melanocytic Nevi 25
Congenital Giant Pigmented Nevus 50
Giant Congenital Pigmented Nevus 25
Congenital Hairy Nevus 50
Giant Pigmented Nevus 50
Bathing Trunk Nevus 50
Giant Hairy Nevus 50
Gmn 25

Classifications:



Summaries for Giant Congenital Nevus

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.

MalaCards based summary : Giant Congenital Nevus, also known as giant congenital melanocytic nevus, is related to gphn-related hyperekplexia and molybdenum cofactor deficiency, and has symptoms including pruritus, seizures and hydrocephalus. Affiliated tissues include skin, brain and spinal cord.

NIH Rare Diseases : 50 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 experience a number of complications ranging from fragile, dry, or itchy skin to neurological problems like neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord). they also have an increased risk of developing malignant melanoma, a type of skin cancer. last updated: 5/7/2015

Wikipedia : 71 The congenital melanocytic nevus is a type of melanocytic nevus (or mole) found in infants at birth.... more...

Related Diseases for Giant Congenital Nevus

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)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 seizures 32 HP:0001250
3 hydrocephalus 32 HP:0000238
4 subcutaneous nodule 32 HP:0001482
5 generalized hirsutism 32 HP:0002230
6 hypopigmented skin patches 32 HP:0001053
7 rhabdomyosarcoma 32 HP:0002859
8 congenital giant melanocytic nevus 32 HP:0005600
9 cutaneous melanoma 32 HP:0012056

Drugs & Therapeutics for Giant Congenital Nevus

Interventional clinical trials:


id Name Status NCT ID Phase
1 Autologous Engineered Skin Substitutes for Closure of Skin Wounds Terminated NCT00591513 Phase 2, Phase 3
2 Phase I Study for Autologous Dermal Substitutes and Dermo-epidermal Skin Substitutes for Treatment of Skin Defects Recruiting NCT02145130 Phase 1
3 Natural History Study of Moles and Suspicious Melanoma Completed NCT00288938
4 Molecular Analysis of Childhood and Adolescent Melanocytic Lesions Recruiting NCT02775643

Search NIH Clinical Center for Giant Congenital Nevus

Genetic Tests for Giant Congenital Nevus

Genetic tests related to Giant Congenital Nevus:

id Genetic test Affiliating Genes
1 Congenital Giant Melanocytic Nevus 29

Anatomical Context for Giant Congenital Nevus

MalaCards organs/tissues related to Giant Congenital Nevus:

39
Skin, Brain, Spinal Cord, Thyroid

Publications for Giant Congenital Nevus

Articles related to Giant Congenital Nevus:

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

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10 dbSNP
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16 ExPASy
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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