MCID: EPD037
MIFTS: 49

Epidermal Nevus malady

Eye, Skin, Cancer categories

Summaries for Epidermal Nevus

Sources:
21Genetics Home Reference, 64Wikipedia, 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 squamous cell carcinoma. An important gene associated with Epidermal Nevus is KRT10 (keratin 10), and among its related pathways are Signaling by FGFR1 mutants and FGFR2c ligand binding and activation. The compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and skin, and related mouse phenotypes are pigmentation and integument.

Wikipedia:64 Epidermal nevus syndrome (also known as \"Feuerstein and Mims syndrome,\" and \"Solomon\'s syndrome\")... more...

Aliases & Classifications for Epidermal Nevus

Sources:
21Genetics Home Reference, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
epidermal hamartoma syndrome 49
epidermal naevus 21
nevus, epidermal 61


External Ids:

MESH via Orphanet36 C536114, D054000
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet58 239107007, 25201003
UMLS via Orphanet62 C0334082

Related Diseases for Epidermal Nevus

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.8PHEX, FGF23
2squamous cell carcinoma30.6PTEN, KRT10, KRT1, FGFR3, CREBBP
3epidermolytic hyperkeratosis30.5KRT1, KRT10
4epidermolytic acanthoma30.0KRT1
5congenital ichthyosiform erythroderma30.0NSDHL, KRT1, KRT10
6hypophosphatemia30.0FGF23, PHEX
7n syndrome11.1
8verrucous nevus11.0
9inflammatory linear verrucous epidermal nevus11.0
10hemimegalencephaly10.4
11acanthosis nigricans10.4
12hemihypertrophy10.4
13linear verrucous nevus syndrome10.4
14linear nevus sebaceous syndrome10.3
15sfm syndrome, somatic mosaic10.3
16verrucous carcinoma10.3
17acanthoma10.3
18basal cell carcinoma10.3
19epidermal nevus vitamin d resistant rickets10.3
20precocious puberty10.3
21woolly hair nevus10.3
22clear cell acanthoma10.2
23arteriovenous malformation10.2
24lichen planus10.2
25blepharophimosis10.2
26transitional cell carcinoma10.2
27becker's nevus10.2
28linear lichen planus10.2
29central precocious puberty10.2
30epidermal nevus, somatic10.2
31segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.2
32choristoma10.2
33burn scar10.1
34proteus syndrome10.1
35alopecia10.1
36guttate psoriasis10.1
37glomuvenous malformation10.1
38lipoblastoma10.1
39neurofibromatosis10.0
40chondroblastoma10.0
41ichthyosis vulgaris10.0
42malignant conjunctiva melanoma10.0
43mccune albright syndrome10.0
44rubinstein-taybi syndrome10.0
45fg syndrome10.0
46ainhum10.0
47vertebral artery occlusion10.0
48coats disease10.0
49focal dermal hypoplasia10.0
50cleft palate10.0

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



Diseases related to epidermal nevus

Clinical Features for Epidermal Nevus

Drugs & Therapeutics for Epidermal Nevus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermal Nevus

Drug clinical trials:

Search ClinicalTrials for Epidermal Nevus

Search NIH Clinical Center for Epidermal Nevus

Search CenterWatch for Epidermal Nevus

Genetic Tests for Epidermal Nevus

Anatomical Context for Epidermal Nevus

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Epidermal Nevus:

33
Brain, Kidney, Skin, B cells, Temporal lobe

Animal Models for Epidermal Nevus or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Epidermal Nevus

Sources:
51PubMed
See all sources

Articles related to Epidermal Nevus:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Familial papular epidermal nevus with "skyline" Basal cell layer. (24274825)
2014
2
Inflammatory linear verrucous epidermal nevus: why a combined laser therapy. (23692514)
2013
3
Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment. (22938157)
2013
4
Epidermal nevus syndrome with hypophosphatemic rickets in a young girl. (24372733)
2013
5
An inflammatory verrucous epidermal nevus concomitant with psoriasis: treatment with adalimumab. (23122018)
2012
6
A metastasizing squamous cell carcinoma arising in a solitary epidermal nevus. (23259077)
2012
7
Inflammatory linear verrucous epidermal nevus of the digits treated with surgical excision and skin grafting. (22882733)
2012
8
Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus. (21772595)
2011
9
Papular epidermal nevus with "skyline" basal cell layer (PENS). (21315481)
2011
10
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. (21639936)
2011
11
Verruciform xanthoma: a special epidermal nevus. (22372163)
2011
12
HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. (22087699)
2011
13
Long term results of non cultured epidermal cellular grafting in vitiligo, halo nevi, piebaldism and nevus depigmentosus. (20560951)
2010
14
Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis. (19951625)
2009
15
Epidermal nevus syndrome: an unusual cerebellar involvement. (19682745)
2009
16
Epidermal nevus syndrome--a neuro-cutaneous marker. (20214001)
2009
17
Case of dystrophic calcinosis cutis in epidermal cyst arising from verrucous epidermal nevus. (19017049)
2008
18
Epidermal nevus syndrome and didymosis aplasticosebacea. (17958800)
2007
19
Epidermal nevus syndromes: clinical findings in 35 patients. (15283784)
2004
20
Epidermal nevus syndromes. (15295924)
2004
21
Inflammatory linear verrucous epidermal nevus. (14594588)
2003
22
Linear verrucous epidermal nevus with cutaneous horn. (12702088)
2003
23
Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims). (12802536)
2003
24
Acantholytic dyskeratotic epidermal nevus: a rare histopathologic feature. (11841519)
2002
25
Epidermal nevus syndrome with development of a mandibular ameloblastoma. (10884637)
2000
26
Zosteriform distribution of acantholytic dyskeratotic epidermal nevus? (10188696)
1999
27
Perivulvar inflammatory linear verrucous epidermal nevus (ILVEN) treated with CO2 laser. (11360427)
1999
28
Startle-induced epilepsy in a patient with epidermal nevus syndrome. (9588533)
1998
29
Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome? (9146558)
1997
30
Clear cell acanthoma developing in epidermal nevus. (9350108)
1997
31
Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. (9031800)
1997
32
Familial inflammatory linear verrucous epidermal nevus (ILVEN). (8112944)
1994
33
Epidermal nevus syndrome: MR of intracranial involvement. (8237713)
1993
34
Epidermal nevus syndrome: subgroup with neuronal migration defects. (1552148)
1992
35
Epidermal nevus: surgical treatment by partial-thickness skin excision. (1575434)
1992
36
Epidermal nevus with transitional cell carcinomas of the urinary tract. (1802914)
1991
37
Vascular abnormalities in epidermal nevus syndrome. (1992375)
1991
38
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. (1992373)
1991
39
Linear epidermal nevus with acantholytic dyskeratosis in an infant. (2277148)
1990
40
Connective tissue nevus masquerading as a localized linear epidermal nevus. (3819063)
1987
41
A squamous cell carcinoma that developed in an epidermal nevus. Report of a case and a review of the literature. (6703257)
1984
42
Keratoacanthoma arising in a linear epidermal nevus. (7082032)
1982
43
Epidermal nevus syndrome with maxillary involvement. (6958846)
1982
44
Basal cell epitheliomas developing in a localized linear epidermal nevus. (7357891)
1980
45
Psoriasis overlying an epidermal nevus. (443842)
1979
46
Inflammatory linear verrucous epidermal nevus (ILVEN). (92155)
1979
47
Macrodactyly and epidermal nevus. (891247)
1977
48
Systematized epidermal nevus. A determinant for the localization of psoriasis. (4750212)
1973
49
Inflammatory linear verrucose epidermal nevus. (5114412)
1971
50
Malignant melanoma arising in a dermal epidermal nevus of the bulbar conjunctiva. (15419260)
1950

Genetic Variations for Epidermal Nevus

Expression for genes affiliated with Epidermal Nevus

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database
See all sources

Pathways related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7FGF23, FGFR3
2
Hide members
9.7FGFR3, FGF23
39.3IKBKG, CD8A
4
Hide members
9.3IKBKG, FGF23
5
Hide members
9.1PTEN, FGF23, FGFR3
68.9CREBBP, FGFR3, PTEN
7
Hide members
8.9IKBKG, FGF23, FGFR3
8
Hide members
8.7PTEN, IKBKG, CD8A
9
Hide members
8.7CD8A, IKBKG, PTEN
10
Hide members
8.5CREBBP, FGFR3, FGF23, PTEN
118.5PTEN, FGF23, FGFR3, CREBBP
12
Hide members
8.5PTEN, FGF23, FGFR3, CREBBP
13
Hide members
8.5IKBKG, PTEN, CREBBP
14
Hide members
8.5CREBBP, IKBKG, PTEN
15
Hide members
8.3CREBBP, FGFR3, FGF23, IKBKG
16
Hide members
8.3IKBKG, FGF23, FGFR3, CREBBP
17
Hide members
8.3CREBBP, FGFR3, FGF23, IKBKG
18
Hide members
8.2FGFR3, FGF23, IKBKG, PTEN
198.2FGFR3, FGF23, IKBKG, PTEN
20
Hide members
8.2FGFR3, FGF23, IKBKG, PTEN
21
Hide members
8.2PTEN, IKBKG, FGF23, FGFR3
22
Hide members
8.1CREBBP, FGFR3, IKBKG, PTEN
23
Hide members
8.0CREBBP, CD8A, FGFR3, FGF23, IKBKG
247.7CREBBP, FGFR3, FGF23, IKBKG, PTEN
25
Hide members
7.7CREBBP, FGFR3, FGF23, IKBKG, PTEN
26
Hide members
7.7CREBBP, FGFR3, FGF23, IKBKG, PTEN
27
Hide members
7.7PTEN, IKBKG, FGF23, FGFR3, CREBBP

Compounds for genes affiliated with Epidermal Nevus

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1tazarotene45 1111.0KRT10, KRT1
2isotretinoin45 1110.9KRT10, KRT1
3phosphorus459.6FGF23, PHEX
41,25 dihydroxy vitamin d3459.6PHEX, FGF23, KRT10
5hematoxylin459.5KRT1, KRT10, PTEN
6steroid459.4KRT10, KRT1, CREBBP
7phenylalanine459.4FGFR3, FGF23, KRT1
8retinoid459.3CREBBP, KRT1, KRT10
9bicalutamide45 60 1111.2PTEN, CREBBP
10paraffin459.0PTEN, KRT10, KRT1, FGFR3
11calcitriol45 60 11 2412.0PTEN, KRT10, FGF23, PHEX
12progesterone45 60 29 11 2412.9PTEN, KRT10, KRT1, CREBBP
13proline458.7PHEX, CREBBP, FGF23, KRT1, KRT10
14vitamin d458.5PHEX, CREBBP, FGF23, KRT10, PTEN
15threonine458.5CREBBP, FGFR3, KRT1, KRT10, PTEN
16leucine458.4PHEX, IKBKG, KRT1, PTEN
17lipid458.0NSDHL, FGFR3, IKBKG, KRT1, PTEN
18zinc45 248.9KRT1, IKBKG, CREBBP, PHEX
19arginine457.4PTEN, CREBBP, FGFR3, FGF23, IKBKG, KRT1
20serine457.3CREBBP, FGFR3, FGF23, IKBKG, KRT1, KRT10
21tyrosine457.1CREBBP, CD8A, FGFR3, FGF23, IKBKG, KRT1
22calcium45 50 11 249.8PHEX, CREBBP, FGFR3, FGF23, IKBKG, KRT1

GO Terms for genes affiliated with Epidermal Nevus

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1internal side of plasma membraneGO:0098989.4PTEN, FGFR3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGF23, FGFR3
2negative regulation of epithelial cell proliferationGO:0506809.4PTEN, FGFR3
3phosphatidylinositol-mediated signalingGO:0480159.1FGFR3, FGF23, PTEN
4fibroblast growth factor receptor signaling pathwayGO:0085439.1PTEN, FGF23, FGFR3
5epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR3, FGF23, PTEN
6neurotrophin TRK receptor signaling pathwayGO:0480118.8PTEN, FGF23, FGFR3
7Fc-epsilon receptor signaling pathwayGO:0380958.4PTEN, IKBKG, FGF23, FGFR3
8innate immune responseGO:0450877.9CREBBP, FGFR3, FGF23, IKBKG, PTEN

Products for genes affiliated with Epidermal Nevus

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermal Nevus

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet