MCID: EPD001
MIFTS: 57

Epidermodysplasia Verruciformis malady

Genetic diseases, Rare diseases, Skin diseases, Blood diseases categories
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Summaries for Epidermodysplasia Verruciformis

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Disease Ontology:8 An autosomal recessive disease that results in skin squamous cell carcinoma located in skin, associated with a high risk of carcinoma. it is characterized by abnormal susceptibility to human papillomaviruses of the skin and has symptom lesions on the body.

MalaCards based summary: Epidermodysplasia Verruciformis, also known as lutz-lewandowsky epidermodysplasia verruciformis, is related to keratosis and psoriasis, and has symptoms including seborrhea/hyperseborrhea/seborrheic dermatitis, chronic skin infection/ulcerations/ulcers/cancrum and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Epidermodysplasia Verruciformis is TMC8 (transmembrane channel-like 8), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The compounds dithranol and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include skin, skin and t cells, and related mouse phenotypes are pigmentation and integument.

Wikipedia:65 Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia) is an extremely rare autosomal... more...

Descriptions from OMIM:46 226400,305350

Aliases & Classifications for Epidermodysplasia Verruciformis

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Epidermodysplasia Verruciformis, Aliases & Descriptions:

Name: Epidermodysplasia Verruciformis 8 9 42 46 10 44 48 62
Lutz-Lewandowsky Epidermodysplasia Verruciformis 42 48
 
Lewandowsky-Lutz Syndrome 42 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
epidermodysplasia verruciformis:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:13777
MeSH34 D004819
SNOMED-CT57 19138001
MESH via Orphanet35 D004819
ICD10 via Orphanet26 B07
UMLS via Orphanet63 C0014522

Related Diseases for Epidermodysplasia Verruciformis

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Graphical network of the top 20 diseases related to Epidermodysplasia Verruciformis:



Diseases related to epidermodysplasia verruciformis

Symptoms for Epidermodysplasia Verruciformis

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Symptoms by clinical synopsis from OMIM:

226400

Clinical features from OMIM:

226400,305350

Symptoms:

48 (show all 13)
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • pustula/pustulosis
  • warts/papillomas
  • anomalies of the immunitary system
  • autosomal recessive inheritance
  • irregular/patchy skin hypopigmentation
  • cafe-au-lait spot
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance

HPO human phenotypes related to Epidermodysplasia Verruciformis:

(show all 14)
id Description Frequency HPO Source Accession
1 seborrheic dermatitis hallmark (90%) HP:0001051
2 abnormality of the immune system hallmark (90%) HP:0002715
3 pustule hallmark (90%) HP:0200039
4 skin ulcer hallmark (90%) HP:0200042
5 verrucae hallmark (90%) HP:0200043
6 cafe-au-lait spot typical (50%) HP:0000957
7 hypopigmented skin patches typical (50%) HP:0001053
8 teleangiectasia of the skin occasional (7.5%) HP:0100585
9 abnormality of metabolism/homeostasis HP:0001939
10 basal cell carcinoma HP:0002671
11 verrucae HP:0200043
12 x-linked inheritance HP:0001417
13 squamous cell carcinoma of the skin HP:0006739
14 verrucae HP:0200043

Drugs & Therapeutics for Epidermodysplasia Verruciformis

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Drug clinical trials:

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Search NIH Clinical Center for Epidermodysplasia Verruciformis

Genetic Tests for Epidermodysplasia Verruciformis

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Anatomical Context for Epidermodysplasia Verruciformis

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MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

32
Skin, T cells, Eye, Brain, Testes, Myeloid

FMA organs/tissues related to Epidermodysplasia Verruciformis:

14
Skin

Animal Models for Epidermodysplasia Verruciformis or affiliated genes

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MGI Mouse Phenotypes related to Epidermodysplasia Verruciformis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT4, KRT1, TMC8
2MP:00107717.9KRT16, KRT4, KRT1, KRT10, TMC6

Publications for Epidermodysplasia Verruciformis

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Articles related to Epidermodysplasia Verruciformis:

(show top 50)    (show all 366)
idTitleAuthorsYear
1
Human immunodeficiency virus (HIV)-associated epidermodysplasia verruciformis eradicated after interferon-I+ and ribavirin treatment. (24527965)
2014
2
Conjunctival squamous cell carcinoma with intraocular invasion after radiotherapy in epidermodysplasia verruciformis. (24767238)
2014
3
Brazilian waxing and human papillomavirus: a case of acquired epidermodysplasia verruciformis. (25183723)
2014
4
Efficacy of oral zinc therapy in epidermodysplasia verruciformis with squamous cell carcinoma. (24616858)
2014
5
Cutaneous Granulomas and Epidermodysplasia Verruciformis in Early Onset Combined Immunodeficiency Syndrome. (24247584)
2013
6
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology. (23534907)
2013
7
Multiple Low-Grade Sarcomas of Fibroblastic Type in the Setting of HIV and Acquired Epidermodysplasia Verruciformis. (23759878)
2013
8
Characterization of beta papillomavirus E4 expression in tumours from Epidermodysplasia Verruciformis patients and in experimental models. (22217391)
2012
9
Dye laser photodynamic therapy for Bowen's disease in a patient with epidermodysplasia verruciformis. (23610850)
2012
10
Merkel cell carcinoma presenting in a young patient as a forme fruste of variant epidermodysplasia verruciformis. (21839331)
2011
11
Seroreactivity of 38 human papillomavirus types in epidermodysplasia verruciformis patients, relatives, and controls. (19924140)
2010
12
Merkel cell polyomavirus in Merkel cell carcinoma from a Brazilian epidermodysplasia verruciformis patient. (20398819)
2010
13
Epidermodysplasia verruciformis-like syndrome in association with systemic lupus erythematosus. (19178492)
2009
14
Epidermodysplasia verruciformis associated with myelodysplastic syndrome: an intriguing association. (19919810)
2009
15
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. (18638629)
2008
16
Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis. (18727487)
2008
17
Epidermodysplasia verruciformis associated with isolated IgM deficiency. (18032865)
2007
18
Changes of epidermodysplasia verruciformis in benign skin lesions: the EV acanthoma. (17214854)
2007
19
Cervical intraepithelial neoplasia associated with epidermodysplasia verruciformis HPV in an HIV-infected patient: a manifestation of immune restoration syndrome. (17337400)
2007
20
Dermoscopy in epidermodysplasia verruciformis. (16393609)
2006
21
A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. (16045695)
2005
22
Human papillomaviruses associated with epidermodysplasia verruciformis in non-melanoma skin cancers: guilty or innocent? (15982294)
2005
23
The lack of a clinical effect of cimetidine in the treatment of epidermodysplasia verruciformis. (15153919)
2004
24
Sunlight exposure and (sero)prevalence of epidermodysplasia verruciformis-associated human papillomavirus. (15175037)
2004
25
Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. (14522631)
2003
26
HPV5b variant in a neoplastic lesion of an Italian patient affected by epidermodysplasia verruciformis. (11701412)
2001
27
Association between epidermodysplasia verruciformis-associated human papillomavirus DNA in plucked eyebrow hair and solar keratoses. (11710920)
2001
28
Patients with epidermodysplasia verruciformis show no response to contact immunotherapy. (11244240)
2001
29
Distinctive distribution of human papillomavirus type 16 and type 20 DNA in the tonsillar and the skin carcinomas of a patient with epidermodysplasia verruciformis. (11069510)
2000
30
Psoriasis: A possible reservoir for human papillomavirus type 5, the virus associated with skin carcinomas of epidermodysplasia verruciformis. (9540967)
1998
31
Human papillomavirus DNA in non-melanoma skin cancers of a renal transplant recipient: detection of a new sequence related to epidermodysplasia verruciformis associated types. (8980287)
1997
32
Epidermodysplasia verruciformis. (9000832)
1996
33
Spiny hyperkeratosis of the fingers as an unusual sign of epidermodysplasia verruciformis. (7868732)
1995
34
Involvement of human papillomavirus type 20 in epidermodysplasia verruciformis skin carcinogenesis. (8027315)
1994
35
Unique topography of DNA-protein interactions in the non-coding region of epidermodysplasia verruciformis-associated human papillomaviruses. (1662691)
1991
36
Epidermodysplasia verruciformis-associated papillomavirus infection complicating human immunodeficiency virus disease. (1847068)
1991
37
Human papillomavirus type 17 transcripts expressed in skin carcinoma tissue of a patient with epidermodysplasia verruciformis. (3032809)
1987
38
A novel type of human papilloma virus DNA from the lesion of epidermodysplasia verruciformis. (3023264)
1986
39
Epidermodysplasia verruciformis. (2982549)
1985
40
Epidermodysplasia verruciformis associated with Bowen's carcinoma, B lymphocytopenia and decreased immune functions. (3005064)
1985
41
Characterization of two HPV-3 related papillomaviruses from common warts that are distinct clinically from flat warts or epidermodysplasia verruciformis. (6302170)
1983
42
Regression of the lesions of epidermodysplasia verruciformis. (7104203)
1982
43
Epidermodysplasia verruciformis (Lewandowsky-Lutz): the revived report of a case seen in 1944. (7451006)
1980
44
UV-induced DNA repair synthesis in patients with epidermodysplasia verruciformis. (6244993)
1980
45
Epidermodysplasia verruciformis: viral particles in early malignant lesions. (701842)
1978
46
Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. (4840892)
1974
47
The ultrastructure of transitional states to Bowen's disease and invasive Bowen's carcinoma in epidermodysplasia verruciformis. (5414361)
1970
48
Epidermodysplasia verruciformis and epidermoid carcinoma. Electron microscopic observations. (4291940)
1967
49
Case for diagnosis: epidermodysplasia verruciformis. (14848416)
1951
50
Epidermodysplasia verruciformis. (15427431)
1950

Variations for Epidermodysplasia Verruciformis

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Clinvar genetic disease variations for Epidermodysplasia Verruciformis:

6
id Gene Name Type Significance SNP ID Assembly Location
1TMC8TMC8, 1-BP DEL, 754TdeletionPathogenic
2TMC8NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter)single nucleotide variantPathogenicrs121908330GRCh37Chr 17, 76131047: 76131047
3TMC6NM_007267.6(TMC6): c.280C> T (p.Arg94Ter)single nucleotide variantPathogenicrs121908327GRCh37Chr 17, 76121957: 76121957
4TMC6NM_007267.6(TMC6): c.1726G> T (p.Glu576Ter)single nucleotide variantPathogenicrs121908328GRCh37Chr 17, 76115463: 76115463
5TMC6NM_007267.6(TMC6): c.744C> A (p.Tyr248Ter)single nucleotide variantPathogenicrs121908329GRCh37Chr 17, 76120752: 76120752
6TMC6TMC6, IVS8AS, A-T, -2single nucleotide variantPathogenic

Expression for genes affiliated with Epidermodysplasia Verruciformis

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Expression patterns in normal tissues for genes affiliated with Epidermodysplasia Verruciformis

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Pathways for genes affiliated with Epidermodysplasia Verruciformis

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Pathways related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0KRT16, KRT4, KRT1

Compounds for genes affiliated with Epidermodysplasia Verruciformis

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Sources:
44Novoseek, 61Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1dithranol449.9KRT16, KRT10
2calcipotriol44 61 28 1112.9KRT16, KRT10
3tazarotene44 1110.8KRT10, KRT1
4isoleucine449.7KRT1, KRT10
5hematoxylin449.7KRT1, KRT10
6bromodeoxyuridine449.5KRT1, KRT10
71,25 dihydroxy vitamin d3449.5KRT16, KRT10
8sodium dodecylsulfate449.5KRT16, KRT1
9isotretinoin44 1110.4KRT16, KRT1, KRT10
10paraffin449.3KRT10, KRT1, KRT16
11proline449.3KRT16, KRT1, KRT10
12progesterone44 28 61 24 1113.1KRT10, KRT1, KRT4
13retinoid448.8KRT10, KRT1, KRT4, KRT16
14steroid448.8KRT10, KRT1, KRT16
15retinoic acid44 249.8KRT16, KRT4, KRT1, KRT10

GO Terms for genes affiliated with Epidermodysplasia Verruciformis

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Cellular components related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450958.9KRT4, KRT1, KRT10
2intermediate filamentGO:0058828.8KRT10, KRT4, KRT16
3extracellular vesicular exosomeGO:0700628.4KRT16, KRT1, KRT10, TMC6, TMC8

Biological processes related to Epidermodysplasia Verruciformis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeleton organizationGO:0070109.5KRT16, KRT4
2ion transportGO:0068118.8TMC6, TMC3, TMC8

Products for genes affiliated with Epidermodysplasia Verruciformis

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  • Antibodies
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Sources for Epidermodysplasia Verruciformis

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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