MCID: EPD037
MIFTS: 56

Epidermal Nevus malady

Eye diseases, Skin diseases, Cancer diseases, Rare diseases categories
Download this MalaCard

Summaries for Epidermal Nevus

About this section


Fully expand this MalaCard
Genetics Home Reference:21 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth.

MalaCards based summary: Epidermal Nevus, also known as epidermal nevus syndrome, is related to rickets and epidermolytic hyperkeratosis. An important gene associated with Epidermal Nevus is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Sorafenib Pharmacodynamics and Signaling by FGFR3 mutants. The compounds crcs and tazarotene have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are tumorigenesis and respiratory system.

Wikipedia:65 Epidermal nevus syndrome (also known as \"Feuerstein and Mims syndrome,\" and \"Solomon\'s syndrome\")... more...

Aliases & Classifications for Epidermal Nevus

About this section
Sources:
21Genetics Home Reference, 44Novoseek, 48Orphanet, 62UMLS, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Epidermal Nevus, Aliases & Descriptions:

Name: Epidermal Nevus 21
Epidermal Nevus Syndrome 44 48
Linear Sebaceous Nevus Sequence 62
 
Epidermal Hamartoma Syndrome 48
Epidermal Naevus 21
Nevus, Epidermal 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
epidermal nevus syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


External Ids:

UMLS via Orphanet63 C0334082
MESH via Orphanet35 C536114, D054000
ICD10 via Orphanet26 Q85.8

Related Diseases for Epidermal Nevus

About this section

Diseases related to Epidermal Nevus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1rickets31.1FGF23, PHEX
2epidermolytic hyperkeratosis30.9KRT10, KRT1
3epidermolytic acanthoma30.7KRT1
4keratosis30.5KRT1, KRT10
5congenital ichthyosiform erythroderma30.5KRT10, KRT1
6lichen planus30.4KRT1, KRT10
7hypophosphatemia30.3FGF23, PHEX
8mental retardation29.8CREBBP, HRAS, FGFR3
9melanoma29.8PTEN, CD8A, HRAS, FGFR3
10inflammatory linear verrucous epidermal nevus11.0
11psoriasis10.6
12hemimegalencephaly10.4
13hemihypertrophy10.4
14acanthosis nigricans10.4
15giant cell glioblastoma10.4PTEN
16gliosarcoma10.4PTEN
17cerebritis10.4
18lipoma10.4
19rhabdomyosarcoma10.4
20hemangioma10.3
21neuronitis10.3
22acanthoma10.3
23basal cell carcinoma10.3
24becker nevus syndrome10.3
25woolly hair nevus10.3
26ichthyosis, cyclic, with epidermolytic hyperkeratosis10.3KRT10, KRT1
27bowen syndrome10.3KRT10, KRT1
28palmoplantar keratosis10.3KRT10, KRT1
29epidermolysis bullosa simplex10.3KRT10, KRT1
30nonepidermolytic palmoplantar keratoderma10.3KRT10, KRT1
31giant cell tumor10.2FGF23, FGFR3
32thyroid carcinoma, follicular, somatic10.2HRAS, PTEN
33hypophosphatemic rickets, autosomal dominant10.2PHEX, FGF23
34clear cell acanthoma10.2
35ameloblastoma10.2
36blepharophimosis10.2
37gingivitis10.2
38hypertrichosis10.2
39keratoacanthoma10.2
40transitional cell carcinoma10.2
41epidermal nevus vitamin d resistant rickets10.2
42linear and whorled nevoid hypermelanosis10.2
43phacomatosis pigmentokeratotica10.2
44precocious puberty10.2
45spitz nevus10.2
46central precocious puberty10.2
47epidermal nevus, somatic10.2
48segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.2
49choristoma10.2
50paraneoplastic syndromes10.2PHEX, FGF23

Graphical network of the top 20 diseases related to Epidermal Nevus:



Diseases related to epidermal nevus

Symptoms for Epidermal Nevus

About this section

Drugs & Therapeutics for Epidermal Nevus

About this section

Drug clinical trials:

Search ClinicalTrials for Epidermal Nevus

Search NIH Clinical Center for Epidermal Nevus

Genetic Tests for Epidermal Nevus

About this section

Anatomical Context for Epidermal Nevus

About this section

MalaCards organs/tissues related to Epidermal Nevus:

32
Skin, Eye, Bone, Kidney, Brain, Testes, Temporal lobe

Animal Models for Epidermal Nevus or affiliated genes

About this section

Publications for Epidermal Nevus

About this section

Articles related to Epidermal Nevus:

(show top 50)    (show all 313)
idTitleAuthorsYear
1
Familial papular epidermal nevus with "skyline" Basal cell layer. (24274825)
2014
2
Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome? (23452296)
2014
3
Intraoral manifestations in a patient with epidermal nevus syndrome. (24309363)
2013
4
Clonal seborrheic keratosis versus epidermal nevus. (23866887)
2013
5
Epidermal nevus in association with some uncommon manifestations. (24476618)
2013
6
Epidermal nevus syndrome with cutaneous mastocytosis. (22681453)
2012
7
An inflammatory verrucous epidermal nevus concomitant with psoriasis: treatment with adalimumab. (23122018)
2012
8
Linear epidermal nevus of the oral cavity: a rare diagnosis. (22811716)
2012
9
Isolated unilateral linear epidermal nevus of the upper eyelid. (22460676)
2012
10
Acantholytic dyskeratotic epidermal nevus. (21393978)
2011
11
Extensive, adulthood inflammatory linear verrucous epidermal nevus associated with mucinous nevus. (21860165)
2011
12
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
13
Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue. (20151270)
2010
14
This is linear verrucous epidermal nevus, not acanthosis nigricans. (20036800)
2010
15
Successful treatment with trichloroacetic acid peeling for inflammatory linear verrucous epidermal nevus. (20507413)
2010
16
Epidermal nevus syndrome associated with hypophosphatemic rickets. (20875335)
2010
17
Squamous cell carcinoma in a linear epidermal nevus. (18514604)
2009
18
Keratinocytic epidermal nevus with oral involvement and cleft palate. (18833076)
2008
19
Epidermal nevus syndromes. (18395670)
2007
20
Epidermal nevus syndrome and didymosis aplasticosebacea. (17958800)
2007
21
Verrucous epidermal nevus with unusual features. (16445428)
2006
22
Epidermal nevus syndrome with internal carotid artery occlusion and intracranial and orbital lipomas. (16908580)
2006
23
Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. (15679074)
2005
24
Epidermal nevus syndromes: clinical findings in 35 patients. (15283784)
2004
25
Multifocal papillary apocrine adenoma arising in a systematized linear epidermal nevus. (15186052)
2004
26
Neurologic variant of epidermal nevus syndrome with a facial lipoma. (11422522)
2001
27
Unilateral atrophic skin lesion with features of atrophoderma vermiculatum: a variant of the epidermal nevus syndrome? (10906657)
2000
28
Topical tretinoin and 5-fluorouracil in the treatment of linear verrucous epidermal nevus. (10863239)
2000
29
Epidermal nevus syndrome with hypermelanosis and chronic hyponatremia. (10738924)
2000
30
Inflammatory linear verrucous epidermal nevus and spinal anomaly. (20921697)
1999
31
What syndrome is this? Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, facial hemihypertrophy and gyral malformation. (9496809)
1998
32
Topical calcipotriol for treatment of inflammatory linear verrucous epidermal nevus. (9158408)
1997
33
Multiple malignant eccrine poroma and a linear epidermal nevus. (8772026)
1996
34
Inflammatory linear verrucous epidermal nevus in patients with positive results of tests for human immunodeficiency virus 1. (7648889)
1995
35
How many epidermal nevus syndromes exist? (1607405)
1992
36
Epidermal nevus with transitional cell carcinomas of the urinary tract. (1802914)
1991
37
Epidermal nevus syndrome: case report and review of clinical manifestations. (2694130)
1989
38
Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body. (2751068)
1989
39
Epidermal nevus syndrome: report of association with chondroblastoma of bone. (2616394)
1989
40
Inflammatory linear verrucous epidermal nevus. (3346132)
1988
41
Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter. (3740101)
1986
42
Inflammatory linear verrucous epidermal nevus: report of seven new cases and review of the literature. (3906609)
1985
43
A squamous cell carcinoma that developed in an epidermal nevus. Report of a case and a review of the literature. (6703257)
1984
44
Inflammatory linear verrucous epidermal nevus. Epidermal protein analysis in four patients. (6696473)
1984
45
Unilateral skin lesions, cataracts, optic glioma and retardation--a variant of the epidermal nevus syndrome? (7128888)
1982
46
Analysis of epidermal fibrous proteins in inflammatory linear verrucous epidermal nevus. (7425666)
1980
47
Psoriasis overlying an epidermal nevus. (443842)
1979
48
Inflammatory linear verrucous epidermal nevus (ILVEN). (92155)
1979
49
Unilateral, linear, zosteriform epidermal nevus with acantholytic dyskeratosis. (453902)
1979
50
Epidermal nevus syndrome. (1186685)
1975

Variations for Epidermal Nevus

About this section

Clinvar genetic disease variations for Epidermal Nevus:

6
id Gene Name Type Significance SNP ID Assembly Location
1HRASNM_005343.2(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
2HRASNM_005343.2(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
3FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
4FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
5FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
6FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089

Expression for genes affiliated with Epidermal Nevus

About this section
Expression patterns in normal tissues for genes affiliated with Epidermal Nevus

Search GEO for disease gene expression data for Epidermal Nevus.

Pathways for genes affiliated with Epidermal Nevus

About this section

Pathways related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8HRAS, FGFR3
2
Show member pathways
9.7FGFR3, FGF23
39.6FGFR3, PTEN
49.6FGFR3, CREBBP
59.6HRAS, PTEN
69.6HRAS, CREBBP
79.6HRAS, CREBBP
89.6HRAS, CREBBP
9
Show member pathways
TCR signaling in naive CD8+ T cells37
9.5PTEN, CD8A
10
Show member pathways
9.4HRAS, FGF23, FGFR3
11
Show member pathways
9.4HRAS, FGF23, FGFR3
12
Show member pathways
9.4HRAS, FGF23, FGFR3
13
Show member pathways
9.4HRAS, FGF23, FGFR3
14
Show member pathways
9.4FGFR3, FGF23, HRAS
15
Show member pathways
MAPK signaling pathway37
9.4FGFR3, FGF23, HRAS
16
Show member pathways
9.3FGFR3, HRAS, PTEN
17
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.2HRAS, CD8A, PTEN
18
Show member pathways
9.2CREBBP, FGF23, FGFR3
19
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
9.1HRAS, CREBBP, PTEN
20
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.1HRAS, CREBBP, PTEN
21
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
9.1HRAS, CREBBP, PTEN
22
Show member pathways
9.0HRAS, KRT1, CREBBP
23
Show member pathways
8.8PTEN, HRAS, FGF23, FGFR3
248.8PTEN, HRAS, FGF23, FGFR3
25
Show member pathways
8.8PTEN, HRAS, FGF23, FGFR3
26
Show member pathways
8.8PTEN, HRAS, FGF23, FGFR3
27
Show member pathways
8.8PTEN, HRAS, FGF23, FGFR3
28
Show member pathways
8.8CREBBP, HRAS, FGF23, FGFR3
29
Show member pathways
8.8CREBBP, HRAS, FGF23, FGFR3
30
Show member pathways
8.8CREBBP, HRAS, FGF23, FGFR3
31
Show member pathways
8.8CREBBP, HRAS, FGF23, FGFR3
32
Show member pathways
8.8FGFR3, FGF23, HRAS, CREBBP
338.8PTEN, CREBBP, HRAS, FGFR3
34
Show member pathways
8.8FGFR3, HRAS, CREBBP, PTEN
35
Show member pathways
8.4FGFR3, FGF23, HRAS, CD8A, PTEN
36
Show member pathways
8.3FGFR3, FGF23, HRAS, CREBBP, PTEN
37
Show member pathways
8.3PTEN, CREBBP, HRAS, FGF23, FGFR3
38
Show member pathways
8.3PTEN, CREBBP, HRAS, FGF23, FGFR3
398.3PTEN, CREBBP, HRAS, FGF23, FGFR3
40
Show member pathways
8.3FGFR3, FGF23, HRAS, CREBBP, PTEN
41
Show member pathways
Signaling Pathways in Glioblastoma37
8.3FGFR3, FGF23, HRAS, CREBBP, PTEN
428.3FGFR3, FGF23, HRAS, CREBBP, PTEN
43
Show member pathways
8.3PTEN, CREBBP, HRAS, FGF23, FGFR3
44
Show member pathways
8.3FGFR3, FGF23, HRAS, CREBBP, PTEN
45
Show member pathways
8.3PTEN, CREBBP, HRAS, FGF23, FGFR3

Compounds for genes affiliated with Epidermal Nevus

About this section

Compounds related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1crcs449.9HRAS, PTEN
2tazarotene44 1110.8KRT10, KRT1
3isotretinoin44 1110.8KRT10, KRT1
4bicalutamide44 61 1111.7CREBBP, PTEN
5mitoxantrone44 50 1111.6CREBBP, PTEN
6phosphotyrosine449.6FGFR3, HRAS, PTEN
7isoleucine449.6KRT1, KRT10
8bromodeoxyuridine449.5HRAS, KRT1, KRT10
9phosphorus449.4FGF23, PHEX
10methionine449.4HRAS, CREBBP, PTEN
11paclitaxel44 50 1111.4PTEN, CREBBP, HRAS
12asparagine449.4HRAS, KRT1, CREBBP
13hematoxylin449.4KRT1, KRT10, PTEN
14pd 98,059449.3PTEN, CREBBP, HRAS
15glutamine449.3CREBBP, HRAS, FGF23
16retinoid449.3CREBBP, KRT10, KRT1
17estradiol44 24 1111.3HRAS, CREBBP, PTEN
181,25 dihydroxy vitamin d3449.2KRT10, PHEX, FGF23
19doxorubicin44 50 1111.2PTEN, CREBBP, HRAS, FGFR3
20pge2449.2PTEN, CREBBP, HRAS
21phenylalanine449.1KRT1, HRAS, FGF23, FGFR3
22vegf449.1FGFR3, HRAS, CREBBP, PTEN
23cisplatin44 50 61 1112.1HRAS, CREBBP, PTEN
24fatty acid449.1KRT10, CREBBP, PTEN
25cysteine449.0PTEN, CREBBP, HRAS, FGFR3
26lysine448.9CREBBP, KRT1, FGFR3
27calcitriol44 61 24 1111.7PTEN, KRT10, PHEX, FGF23
28paraffin448.7PTEN, KRT10, KRT1, HRAS, FGFR3
29aspartate448.5PTEN, KRT1, PHEX, HRAS
30leucine448.5PTEN, KRT1, PHEX, HRAS
31zinc44 249.5CREBBP, KRT1, PHEX, HRAS
32progesterone44 28 61 24 1112.5HRAS, KRT1, KRT10, CREBBP, PTEN
33steroid448.5PTEN, CREBBP, KRT10, KRT1, HRAS
34estrogen448.5HRAS, KRT1, KRT10, CREBBP, PTEN
35retinoic acid44 249.5PTEN, CREBBP, KRT10, KRT1, HRAS
36lipid448.4FGFR3, HRAS, KRT1, PTEN
37vitamin d448.2PTEN, CREBBP, KRT10, PHEX, FGF23
38threonine448.2PTEN, CREBBP, KRT10, KRT1, HRAS, FGFR3
39proline448.1FGF23, PHEX, KRT1, KRT10, CREBBP
40arginine447.7FGFR3, PTEN, CREBBP, KRT10, KRT1, HRAS
41serine447.7PTEN, CREBBP, KRT10, KRT1, HRAS, FGF23
42tyrosine447.3PTEN, CREBBP, KRT10, KRT1, CD8A, HRAS
43calcium44 50 24 119.9PTEN, CREBBP, KRT10, KRT1, PHEX, HRAS

GO Terms for genes affiliated with Epidermal Nevus

About this section

Cellular components related to Epidermal Nevus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:0098989.6FGFR3, PTEN
2plasma membraneGO:0058867.1FGFR3, HRAS, CD8A, PHEX, KRT1, PTEN

Biological processes related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.9FGF23, FGFR3
2MAPK cascadeGO:0001659.8FGFR3, HRAS
3social behaviorGO:0351769.7PTEN, HRAS
4negative regulation of epithelial cell proliferationGO:0506809.6FGFR3, PTEN
5positive regulation of ERK1 and ERK2 cascadeGO:0703749.5FGFR3, FGF23, HRAS
6positive regulation of MAPK cascadeGO:0434109.5FGFR3, HRAS
7insulin receptor signaling pathwayGO:0082869.5FGFR3, FGF23, HRAS
8phosphatidylinositol-mediated signalingGO:0480159.3PTEN, FGF23, FGFR3
9positive regulation of cell proliferationGO:0082849.2PTEN, HRAS, FGFR3
10fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR3, FGF23, HRAS, PTEN
11Fc-epsilon receptor signaling pathwayGO:0380959.1PTEN, HRAS, FGF23, FGFR3
12epidermal growth factor receptor signaling pathwayGO:0071739.1PTEN, HRAS, FGF23, FGFR3
13neurotrophin TRK receptor signaling pathwayGO:0480119.1FGFR3, FGF23, HRAS, PTEN
14innate immune responseGO:0450878.5PTEN, CREBBP, HRAS, FGF23, FGFR3

Products for genes affiliated with Epidermal Nevus

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Epidermal Nevus

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet