MCID: GNT020
MIFTS: 36

Giant Congenital Nevus malady

Categories: Rare diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Giant Congenital Nevus

About this section
Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Giant Congenital Nevus:

Name: Giant Congenital Nevus 45
Giant Pigmented Hairy Nevus 45 23 51 65
Giant Congenital Melanocytic Nevus 45 23 51
Large Congenital Melanocytic Nevus 45 51
Gphn 45 23
Gmn 23 51
Congenital Giant Pigmented Nevus of Skin 23
Congenital Melanocytic Nevus Syndrome 23
Giant Congenital Melanocytic Nevi 23
 
Giant Congenital Pigmented Nevus 23
Congenital Giant Pigmented Nevus 45
Congenital Melanocytic Nevus 65
Congenital Pigmented Nevus 51
Congenital Hairy Nevus 45
Giant Pigmented Nevus 45
Bathing Trunk Nevus 45
Giant Hairy Nevus 45
Lcmn 51

Characteristics:

Orphanet epidemiological data:

51
giant pigmented hairy nevus:
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 626
ICD10 via Orphanet28 D22
UMLS via Orphanet66 C1318558, C1842036
UMLS65 C1842036, C1318558

Summaries for Giant Congenital Nevus

About this section
Genetics Home Reference:23 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 pigmented hairy nevus, is related to gphn-related hyperekplexia and melanocytic nevus syndrome, congenital, somatic, and has symptoms including abnormal pigmentary skin changes/skin pigmentation anomalies, capillary hemangioma/nevus/naevus flammeus/port-wine stain and scalp cyst/giant nevus. An important gene associated with Giant Congenital Nevus is NRAS (Neuroblastoma RAS Viral Oncogene Homolog), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin, spinal cord and brain, and related mouse phenotypes are tumorigenesis and pigmentation.

NIH Rare Diseases:45 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

Related Diseases for Giant Congenital Nevus

About this section

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



Diseases related to giant congenital nevus

Symptoms for Giant Congenital Nevus

About this section

Symptoms:

 51 (show all 14)
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • scalp cyst/giant nevus
  • hirsutism/hypertrichosis/increased body hair
  • neoplasms/tumors
  • pruritus/itching
  • irregular/patchy skin hypopigmentation
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hydrocephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • melanoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • sarcoma
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma

UMLS symptoms related to Giant Congenital Nevus:


leser-trélat sign

Drugs & Therapeutics for Giant Congenital Nevus

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Autologous Engineered Skin Substitutes for Closure of Skin WoundsTerminatedNCT00591513Phase 2, Phase 3
2Phase I Study for Autologous Dermal Substitutes and Dermo-epidermal Skin Substitutes for Treatment of Skin DefectsRecruitingNCT02145130Phase 1
3Natural History Study of Moles and Suspicious MelanomaCompletedNCT00288938
4Molecular Analysis of Childhood and Adolescent Melanocytic LesionsRecruitingNCT02775643

Search NIH Clinical Center for Giant Congenital Nevus

Genetic Tests for Giant Congenital Nevus

About this section

Anatomical Context for Giant Congenital Nevus

About this section

MalaCards organs/tissues related to Giant Congenital Nevus:

33
Skin, Spinal cord, Brain, Heart, Kidney, Endothelial, T cells

Animal Models for Giant Congenital Nevus or affiliated genes

About this section

MGI Mouse Phenotypes related to Giant Congenital Nevus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2MC1R, NRAS
2MP:00011869.1MC1R, NRAS
3MP:00053829.1MC1R, NRAS
4MP:00053719.0MC1R, NRAS

Publications for Giant Congenital Nevus

About this section

Articles related to Giant Congenital Nevus:

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

Variations for Giant Congenital Nevus

About this section

Expression for genes affiliated with Giant Congenital Nevus

About this section
Search GEO for disease gene expression data for Giant Congenital Nevus.

Pathways for genes affiliated with Giant Congenital Nevus

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1MC1R, NRAS

GO Terms for genes affiliated with Giant Congenital Nevus

About this section

Sources for Giant Congenital Nevus

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet