MCID: EPD037
MIFTS: 54

Epidermal Nevus malady

Eye diseases, Skin diseases, Cancer diseases, Rare diseases categories
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Summaries for Epidermal Nevus

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21Genetics Home Reference, 65Wikipedia, 33MalaCards
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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: Epidermal Nevus, also known as epidermal nevus syndrome, is related to rickets and epidermolytic hyperkeratosis. An important gene associated with Epidermal Nevus is KRT10 (keratin 10), and among its related pathways are Signaling by FGFR3 mutants and Signaling by FGFR1 mutants. The compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are tumorigenesis and normal.

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

Aliases & Classifications for Epidermal Nevus

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Sources:
21Genetics Home Reference, 45Novoseek, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
epidermal nevus syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

epidermal nevus 21
epidermal nevus syndrome 45 49
linear sebaceous nevus sequence 62
epidermal hamartoma syndrome 49
nevus, epidermal 62
epidermal naevus 21


External Ids:

SNOMED-CT via Orphanet59 239112008, 239107007, 25201003
MESH via Orphanet36 C536114, D054000
ICD10 via Orphanet26 Q85.8
UMLS via Orphanet63 C0334082

Related Diseases for Epidermal Nevus

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17GeneCards, 18GeneDecks
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Diseases related to Epidermal Nevus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.9FGF23, PHEX
2epidermolytic hyperkeratosis30.6KRT10, KRT1
3basal cell carcinoma30.4CREBBP, KRT10
4epidermolytic acanthoma30.2KRT1
5keratosis30.1KRT1, KRT10
6congenital ichthyosiform erythroderma30.1KRT1, KRT10
7lichen planus30.1KRT10, KRT1
8hypophosphatemia30.1FGF23, PHEX
9inflammatory linear verrucous epidermal nevus11.0
10psoriasis10.6
11hemimegalencephaly10.4
12acanthosis nigricans10.4
13hemihypertrophy10.4
14cerebritis10.3
15lipoma10.3
16rhabdomyosarcoma10.3
17neuronitis10.3
18acanthoma10.3
19hemangioma10.3
20becker nevus syndrome10.3
21precocious puberty10.3
22woolly hair nevus10.3
23clear cell acanthoma10.2
24blepharophimosis10.2
25gingivitis10.2
26keratoacanthoma10.2
27transitional cell carcinoma10.2
28epidermal nevus vitamin d resistant rickets10.2
29linear and whorled nevoid hypermelanosis10.2
30central precocious puberty10.2
31epidermal nevus, somatic10.2
32segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.2
33choristoma10.2
34giant cell glioblastoma10.1PTEN
35gliosarcoma10.1PTEN
36burn scar10.1
37burns10.1
38proteus syndrome10.1
39right bundle branch block10.1
40alopecia10.1
41guttate psoriasis10.1
42lipoblastoma10.1
43glomuvenous malformation10.1
44ichthyosis, cyclic, with epidermolytic hyperkeratosis10.1KRT1, KRT10
45giant cell tumor10.0FGF23, FGFR3
46bowen syndrome10.0KRT10, KRT1
47palmoplantar keratosis10.0KRT10, KRT1
48neurofibromatosis10.0
49rubinstein-taybi syndrome10.0
50mccune albright syndrome10.0

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



Diseases related to epidermal nevus

Symptoms for Epidermal Nevus

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Drugs & Therapeutics for Epidermal Nevus

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Epidermal Nevus

Search NIH Clinical Center for Epidermal Nevus

Genetic Tests for Epidermal Nevus

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Anatomical Context for Epidermal Nevus

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33MalaCards
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MalaCards organs/tissues related to Epidermal Nevus:

33
Skin, Eye, Bone, Brain, Kidney, Testes, Temporal lobe

Animal Models for Epidermal Nevus or affiliated genes

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Sources:
37MGI
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Publications for Epidermal Nevus

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Sources:
52PubMed
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Articles related to Epidermal Nevus:

(show top 50)    (show all 302)
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 syndrome with cutaneous mastocytosis. (22681453)
2012
6
An inflammatory verrucous epidermal nevus concomitant with psoriasis: treatment with adalimumab. (23122018)
2012
7
Linear epidermal nevus of the oral cavity: a rare diagnosis. (22811716)
2012
8
Isolated unilateral linear epidermal nevus of the upper eyelid. (22460676)
2012
9
Acantholytic dyskeratotic epidermal nevus. (21393978)
2011
10
Extensive, adulthood inflammatory linear verrucous epidermal nevus associated with mucinous nevus. (21860165)
2011
11
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
12
Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue. (20151270)
2010
13
This is linear verrucous epidermal nevus, not acanthosis nigricans. (20036800)
2010
14
Successful treatment with trichloroacetic acid peeling for inflammatory linear verrucous epidermal nevus. (20507413)
2010
15
Epidermal nevus syndrome associated with hypophosphatemic rickets. (20875335)
2010
16
Squamous cell carcinoma in a linear epidermal nevus. (18514604)
2009
17
Keratinocytic epidermal nevus with oral involvement and cleft palate. (18833076)
2008
18
Nevus marginatus: a distinct type of epidermal nevus or merely a variant of nevus sebaceus? (18182817)
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

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Epidermal Nevus:

1
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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 55Reactome, 60Thomson Reuters, 38NCBI BioSystems Database, 51PharmGKB, 57SinoBiological, 54R&D Systems, 5Cell Signaling Technology, 53QIAGEN, 30KEGG
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Pathways related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6FGFR3, FGF23
2
Show member pathways
9.6FGF23, FGFR3
3
Show member pathways
9.6FGF23, FGFR3
4
Show member pathways
TCR signaling in naive CD8+ T cells38
9.6PTEN, CD8A
5
Show member pathways
9.5PTEN, FGFR3
69.5FGFR3, PTEN
79.5CREBBP, FGFR3
89.4CREBBP, PTEN
9
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.4CREBBP, PTEN
10
Show member pathways
9.1FGFR3, FGF23, PTEN
11
Show member pathways
9.1FGF23, PTEN, FGFR3
12
Show member pathways
9.1FGFR3, FGF23, PTEN
13
Show member pathways
9.1FGFR3, PTEN, FGF23
149.1FGF23, FGFR3, PTEN
15
Show member pathways
9.1FGF23, CREBBP, FGFR3
16
Show member pathways
9.1CREBBP, FGF23, FGFR3
17
Show member pathways
9.1CREBBP, FGF23, FGFR3
18
Show member pathways
9.1CREBBP, FGF23, FGFR3
19
Show member pathways
9.1FGFR3, FGF23, CREBBP
209.0FGFR3, CREBBP, PTEN
21
Show member pathways
9.0PTEN, FGFR3, CREBBP
22
Show member pathways
8.7PTEN, CD8A, FGFR3, FGF23
238.6PTEN, CREBBP, FGF23, FGFR3
24
Show member pathways
8.6CREBBP, FGFR3, PTEN, FGF23
25
Show member pathways
8.6CREBBP, FGFR3, FGF23, PTEN
268.6PTEN, CREBBP, FGF23, FGFR3
27
Show member pathways
8.6PTEN, CREBBP, FGF23, FGFR3
28
Show member pathways
8.6FGFR3, FGF23, PTEN, CREBBP
29
Show member pathways
8.6PTEN, FGF23, FGFR3, CREBBP
30
Show member pathways
8.6FGFR3, CREBBP, PTEN, FGF23
31
Show member pathways
Signaling Pathways in Glioblastoma38
8.6FGFR3, PTEN, FGF23, CREBBP

Compounds for genes affiliated with Epidermal Nevus

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 24HMDB, 29IUPHAR
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Compounds related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1tazarotene45 1110.8KRT10, KRT1
2isotretinoin45 1110.8KRT1, KRT10
3bicalutamide45 61 1111.7PTEN, CREBBP
4mitoxantrone45 51 1111.6PTEN, CREBBP
5isoleucine459.6KRT1, KRT10
6phosphorus459.5PHEX, FGF23
7bortezomib45 51 1111.4FGFR3, PTEN
8hematoxylin459.3KRT1, PTEN, KRT10
9phenylalanine459.3FGFR3, FGF23, KRT1
10retinoid459.3KRT1, KRT10, CREBBP
11fatty acid459.3KRT10, CREBBP, PTEN
121,25 dihydroxy vitamin d3459.2KRT10, PHEX, FGF23
13doxorubicin45 51 1111.2CREBBP, PTEN, FGFR3
14asparagine459.0KRT1, CREBBP
15lysine459.0FGFR3, KRT1, CREBBP
16paraffin458.9PTEN, KRT10, KRT1, FGFR3
17testosterone45 61 24 1111.8KRT1, CREBBP, PTEN
18progesterone45 29 61 24 1112.8KRT10, CREBBP, PTEN, KRT1
19steroid458.8KRT10, KRT1, CREBBP, PTEN
20calcitriol45 61 24 1111.8PHEX, KRT10, PTEN, FGF23
21estrogen458.7PTEN, CREBBP, KRT1, KRT10
22retinoic acid45 249.7KRT1, KRT10, CREBBP, PTEN
23aspartate458.6PTEN, PHEX, KRT1
24leucine458.5PHEX, PTEN, KRT1
25threonine458.4PTEN, CREBBP, KRT10, FGFR3, KRT1
26vitamin d458.3PTEN, FGF23, PHEX, KRT10, CREBBP
27proline458.1KRT1, FGF23, PHEX, KRT10, CREBBP
28arginine458.0FGFR3, FGF23, KRT1, KRT10, CREBBP, PTEN
29serine458.0FGFR3, FGF23, KRT1, KRT10, CREBBP, PTEN
30tyrosine457.6CREBBP, KRT10, CD8A, FGF23, FGFR3, KRT1
31calcium45 51 24 1110.2FGF23, PHEX, KRT1, KRT10, PTEN, CREBBP

GO Terms for genes affiliated with Epidermal Nevus

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16Gene Ontology
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Cellular components related to Epidermal Nevus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.5KRT1, KRT10
2cytoplasmic side of plasma membraneGO:0098989.2FGFR3, PTEN

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGF23, FGFR3
2positive regulation of ERK1 and ERK2 cascadeGO:0703749.6FGFR3, FGF23
3phosphatidylinositol-mediated signalingGO:0480159.3PTEN, FGFR3, FGF23
4fibroblast growth factor receptor signaling pathwayGO:0085439.2PTEN, FGF23, FGFR3
5negative regulation of epithelial cell proliferationGO:0506809.2FGFR3, PTEN
6Fc-epsilon receptor signaling pathwayGO:0380959.2PTEN, FGFR3, FGF23
7epidermal growth factor receptor signaling pathwayGO:0071739.1FGF23, PTEN, FGFR3
8neurotrophin TRK receptor signaling pathwayGO:0480119.0PTEN, FGF23, FGFR3
9innate immune responseGO:0450878.7PTEN, CREBBP, FGF23, FGFR3

Products for genes affiliated with Epidermal Nevus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermal Nevus

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet