MCID: EPD001
MIFTS: 50

Epidermodysplasia Verruciformis malady

Genetic diseases, Rare diseases, Skin diseases, Blood diseases categories

Aliases & Classifications for Epidermodysplasia Verruciformis

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Epidermodysplasia Verruciformis:

Name: Epidermodysplasia Verruciformis 49 10 11 45 22 47 12 51 65 36 67
Lutz-Lewandowsky Epidermodysplasia Verruciformis 45 51
 
Lewandowsky-Lutz Syndrome 45 51
Ev 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
epidermodysplasia verruciformis:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM49 226400
Disease Ontology10 DOID:13777
MeSH36 D004819
Orphanet51 302
SNOMED-CT59 19138001
ICD10 via Orphanet28 B07
MESH via Orphanet37 D004819
UMLS via Orphanet66 C0014522
MedGen34 C0014522

Summaries for Epidermodysplasia Verruciformis

About this section
OMIM:49 Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al.,... (226400) more...

MalaCards based summary: Epidermodysplasia Verruciformis, also known as lutz-lewandowsky epidermodysplasia verruciformis, is related to papilloma and keratosis, and has symptoms including seborrheic dermatitis, abnormality of the immune system and pustule. An important gene associated with Epidermodysplasia Verruciformis is TMC6 (Transmembrane Channel-Like 6), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, skin and t cells, and related mouse phenotypes are pigmentation and craniofacial.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 Epidermodysplasia verruciformis: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.

Wikipedia:68 Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia), colloquially known as tree man... more...

Related Diseases for Epidermodysplasia Verruciformis

About this section

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



Diseases related to epidermodysplasia verruciformis

Symptoms for Epidermodysplasia Verruciformis

About this section

Symptoms by clinical synopsis from OMIM:

226400

Clinical features from OMIM:

226400

Symptoms:

 51 10 (show all 14)
  • 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
  • lesions on the body

HPO human phenotypes related to Epidermodysplasia Verruciformis:

(show all 11)
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

Drugs & Therapeutics for Epidermodysplasia Verruciformis

About this section

Drugs for Epidermodysplasia Verruciformis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycolic acidexperimental1279-14-1757
Synonyms:
2-Hydroxyacetate
2-Hydroxyacetic acid
GlyPure
GlyPure 70
Glycocide
Glycolate
Glycolic acid
Glycollate
Glycollic acid
 
Hydroxyacetate
Hydroxyacetic acid
Hydroxyethanoate
Hydroxyethanoic Acid
Hydroxyethanoic acid
Sodium glycolate
a-Hydroxyacetate
a-Hydroxyacetic acid
alpha-Hydroxyacetate
alpha-Hydroxyacetic acid
2

Interventional clinical trials:

idNameStatusNCT IDPhase
1Acquired Epidermodysplasia Verruciformis (EV) Syndrome in HIV-infected Pediatric PatientsCompletedNCT01289171
2Evaluation of the Effectiveness of an Alcohol Based Hand Gel for the Reduction of Warts on the HandsCompletedNCT00973856

Search NIH Clinical Center for Epidermodysplasia Verruciformis


Cochrane evidence based reviews: Epidermodysplasia Verruciformis

Genetic Tests for Epidermodysplasia Verruciformis

About this section

Genetic tests related to Epidermodysplasia Verruciformis:

id Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis22 TMC6, TMC8

Anatomical Context for Epidermodysplasia Verruciformis

About this section

MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

33
Skin, T cells, Myeloid, Testes, Eye, Brain

FMA organs/tissues related to Epidermodysplasia Verruciformis:

16
Skin

Animal Models for Epidermodysplasia Verruciformis or affiliated genes

About this section

MGI Mouse Phenotypes related to Epidermodysplasia Verruciformis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9KRT1, KRT14, KRT4, TMC8
2MP:00053828.0KRT10, KRT14, KRT16, KRT4, TNF
3MP:00020067.9CDH1, ETV4, KRT10, KRT14, TNF
4MP:00107715.5CDH1, ETV4, KRT1, KRT10, KRT14, KRT16

Publications for Epidermodysplasia Verruciformis

About this section

Articles related to Epidermodysplasia Verruciformis:

(show top 50)    (show all 374)
idTitleAuthorsYear
1
Remission of an epidermodysplasia verruciformis-like eruption in an HIV-positive man long after immune restoration. (26243233)
2015
2
Deleterious Effect of Radiation Therapy on Epidermodysplasia Verruciformis Patients. (26156649)
2015
3
Possible association between actinic keratosis and the rs7208422 (c.917Aa89T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. (25495765)
2015
4
Human immunodeficiency virus (HIV)-associated epidermodysplasia verruciformis eradicated after interferon-I+ and ribavirin treatment. (24527965)
2014
5
Conjunctival squamous cell carcinoma with intraocular invasion after radiotherapy in epidermodysplasia verruciformis. (24767238)
2014
6
Brazilian waxing and human papillomavirus: a case of acquired epidermodysplasia verruciformis. (25183723)
2014
7
Cutaneous Granulomas and Epidermodysplasia Verruciformis in Early Onset Combined Immunodeficiency Syndrome. (24247584)
2013
8
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology. (23534907)
2013
9
Multiple Low-Grade Sarcomas of Fibroblastic Type in the Setting of HIV and Acquired Epidermodysplasia Verruciformis. (23759878)
2013
10
Characterization of beta papillomavirus E4 expression in tumours from Epidermodysplasia Verruciformis patients and in experimental models. (22217391)
2012
11
Dye laser photodynamic therapy for Bowen's disease in a patient with epidermodysplasia verruciformis. (23610850)
2012
12
Merkel cell carcinoma presenting in a young patient as a forme fruste of variant epidermodysplasia verruciformis. (21839331)
2011
13
Seroreactivity of 38 human papillomavirus types in epidermodysplasia verruciformis patients, relatives, and controls. (19924140)
2010
14
Merkel cell polyomavirus in Merkel cell carcinoma from a Brazilian epidermodysplasia verruciformis patient. (20398819)
2010
15
Epidermodysplasia verruciformis-like syndrome in association with systemic lupus erythematosus. (19178492)
2009
16
Epidermodysplasia verruciformis associated with myelodysplastic syndrome: an intriguing association. (19919810)
2009
17
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. (18638629)
2008
18
Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis. (18727487)
2008
19
Epidermodysplasia verruciformis associated with isolated IgM deficiency. (18032865)
2007
20
Changes of epidermodysplasia verruciformis in benign skin lesions: the EV acanthoma. (17214854)
2007
21
Cervical intraepithelial neoplasia associated with epidermodysplasia verruciformis HPV in an HIV-infected patient: a manifestation of immune restoration syndrome. (17337400)
2007
22
Dermoscopy in epidermodysplasia verruciformis. (16393609)
2006
23
A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. (16045695)
2005
24
The lack of a clinical effect of cimetidine in the treatment of epidermodysplasia verruciformis. (15153919)
2004
25
Sunlight exposure and (sero)prevalence of epidermodysplasia verruciformis-associated human papillomavirus. (15175037)
2004
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

About this section

Clinvar genetic disease variations for Epidermodysplasia Verruciformis:

5
id Gene Variation 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
6TMC6NM_007267.6(TMC6): c.892-2A> Tsingle nucleotide variantPathogenicrs769471844GRCh37Chr 17, 76120262: 76120262

Expression for genes affiliated with Epidermodysplasia Verruciformis

About this section
Search GEO for disease gene expression data for Epidermodysplasia Verruciformis.

Pathways for genes affiliated with Epidermodysplasia Verruciformis

About this section

Pathways related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5KRT1, KRT14, KRT16, KRT4

GO Terms for genes affiliated with Epidermodysplasia Verruciformis

About this section

Cellular components related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cortical actin cytoskeletonGO:003086410.1CDH1, CORO1A
2phagocytic cupGO:00018919.8CORO1A, TNF
3keratin filamentGO:00450959.1KRT1, KRT10, KRT14, KRT4
4intermediate filamentGO:00058828.7KRT1, KRT10, KRT14, KRT16, KRT4
5extracellular exosomeGO:00700627.2CDH1, CORO1A, KRT1, KRT10, KRT14, KRT16

Biological processes related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:00426339.9KRT14, KRT16
2establishment of skin barrierGO:00614369.8KRT1, KRT16
3establishment of protein localization to plasma membraneGO:00900029.1CDH1, TNF
4epithelial cell differentiationGO:00308559.1KRT10, KRT14, KRT4

Molecular functions related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.1KRT1, KRT10, KRT14, KRT16, KRT4

Sources for Epidermodysplasia Verruciformis

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