MCID: PRK001
MIFTS: 48

Porokeratosis malady

Rare diseases, Skin diseases categories

Summaries for Porokeratosis

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NIH Rare Diseases:41 Disseminated superficial actinic porokeratosis (dsap) is a skin condition that causes dry patches. it is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). dsap usually starts during the third or fourth decade of life and rarely affects children. lesions usually appear in summer and improve or disappear during winter. while it is usually benign (not cancerous), squamous cell carcinoma or bowen’s disease may occasionally develop within patches. dsap may be inherited in an autosomal dominant matter or may occur sporadically (in people with no family history of dsap). some cases are caused by a change (mutation) in the mvk or sart3 genes. treatment is generally not effective long-term but may include sun protection, topical medications, cryotherapy, and/or photodynamic therapy. last updated: 3/12/2015

MalaCards based summary: Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to psoriasis and lichen planus, and has symptoms including hyperkeratosis, hypohidrosis and aplasia/hypoplasia of the skin. An important gene associated with Porokeratosis is MVK (mevalonate kinase), and among its related pathways are DNA damage ATM ATR regulation of G1 S checkpoint and DNA damage Role of Brca1 and Brca2 in DNA repair. The compounds collodion and farnesol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone.

Wikipedia:63 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Aliases & Classifications for Porokeratosis

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Sources:
9Disease Ontology, 43Novoseek, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Porokeratosis, Aliases & Descriptions:

Name: Porokeratosis 9 43
Disseminated Superficial Actinic Porokeratosis 9 41 47
Porokeratosis, Disseminated Superficial Actinic, 1 60
Porokeratosis, Disseminated Superficial Actinic 60
 
Porokeratosis of Mibelli 60
Porokeratosis, Nos 9
Dsap 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology9 DOID:3805
MeSH33 D017499
NCIt38 C85019
Orphanet47 79152
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet61 C0265970

Related Diseases for Porokeratosis

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Diseases related to Porokeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1psoriasis30.8S100A7, LOR, FLG, IVL
2lichen planus30.6FLG, IVL
3keratosis30.2SSH1, LOR, SART3, FLG, IVL
4basal cell carcinoma30.2IVL, TP53, S100A7
5dermatitis30.1IVL, FLG, LOR, S100A7
6porokeratosis of mibelli11.0
7linear porokeratosis10.9
8punctate porokeratosis10.6
9porokeratosis plantaris palmaris et disseminata10.5
10porokeratosis 3, disseminated superficial actinic10.5
11porokeratosis 8, disseminated superficial actinic type10.4
12epidermolytic hyperkeratosis10.4LOR, FLG
13ichthyosis lamellar 110.3IVL, FLG
14cdags syndrome10.3
15bowen syndrome10.3FLG, IVL
16epidermolysis bullosa simplex10.3IVL, FLG
17palmoplantar keratoderma, nonepidermolytic10.3FLG, LOR
18leukoplakia10.3FLG, IVL
19ichthyosis vulgaris10.3LOR, FLG, IVL
20molluscum contagiosum10.3LOR, FLG, IVL
21hepatitis10.3
22porokeratosis, disseminated superficial actinic 210.3
23congenital ichthyosiform erythroderma10.3LOR, FLG, IVL
24ductal carcinoma in situ10.2TP53, S100A7
25atopic dermatitis10.2LOR, FLG
26amyloidosis10.2
27cholesteatoma10.2FLG, IVL
28hepatitis c virus10.2
29myelodysplastic syndrome10.2
30craniosynostosis10.2
31hepatitis c10.2
32pemphigus10.2
33palmoplantar porokeratosis of mantoux10.2
34skin disease10.1IVL, FLG, LOR, S100A7
35papilloma10.1IVL, TP53, FLG, LOR
36bullous pemphigoid10.1IVL, FLG
37aphakia, congenital primary10.1
38cholangiocarcinoma10.1
39liver disease10.1
40pemphigus foliaceus10.1
41pseudoainhum10.1
42rheumatoid arthritis9.9
43colorectal cancer9.9
44systemic lupus erythematosus9.9
45hepatocellular carcinoma9.9
46cystic fibrosis9.9
47nijmegen breakage syndrome9.9
48rothmund-thomson syndrome9.9
49pseudoxanthoma elasticum9.9
50esophageal cancer9.9

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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Symptoms:

 47 (show all 8)
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • skin photosensitivity
  • pruritus/itching
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance

HPO human phenotypes related to Porokeratosis:

(show all 8)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 hypohidrosis hallmark (90%) HP:0000966
3 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
4 pruritus typical (50%) HP:0000989
5 cutaneous photosensitivity typical (50%) HP:0000992
6 abnormality of skin pigmentation typical (50%) HP:0001000
7 aplasia/hypoplasia of the skin typical (50%) HP:0008065
8 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Porokeratosis

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Drug clinical trials:

Search ClinicalTrials for Porokeratosis

Search NIH Clinical Center for Porokeratosis

Genetic Tests for Porokeratosis

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Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

31
Skin, Bone marrow, Bone, Colon, Liver, Heart, Lung, Prostate, Testes, T cells, B cells

Animal Models for Porokeratosis or affiliated genes

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Publications for Porokeratosis

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Articles related to Porokeratosis:

(show top 50)    (show all 552)
idTitleAuthorsYear
1
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. (24781643)
2014
2
Porokeratosis ptychotropica: a rare variant of porokeratosis. (24945649)
2014
3
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. (24553841)
2014
4
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. (24898929)
2014
5
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
6
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
7
Split-face trial of CO(2) laser-induced ring abrasion and high-dose tacalcitol in the treatment of disseminated superficial actinic porokeratosis. (22220840)
2012
8
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
9
Porokeratosis ptychotropica. (21527368)
2011
10
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
11
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
12
Disseminated superficial porokeratosis developed by immunosuppression due to rheumatoid arthritis treatment. (19691753)
2009
13
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
14
Porokeratosis: Two Faces, One Family. (20652115)
2009
15
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
16
Unusual evolution of giant porokeratosis developing in two renal transplant patients. (18613889)
2008
17
Treatment of disseminated superficial actinic porokeratosis with topical diclofenac gel: a case series. (18554227)
2008
18
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
19
Porokeratosis confined to the genital area: a report of three cases. (18193505)
2008
20
Segmental porokeratosis after radiation therapy for follicular lymphoma. (18191708)
2008
21
A case of porokeratosis associated with chronic renal failure. (17062086)
2006
22
Successful treatment of porokeratosis with topical imiquimod in 2 immunosuppressed cases. (16865875)
2006
23
Medical pearl: Gentian violet to highlight the cornoid lamella in disseminated superficial actinic porokeratosis. (15761432)
2005
24
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
25
Giant actinic porokeratosis of the scalp. (14511006)
2003
26
Co-existence of variants of porokeratosis: a case report and a review of the literature. (12081163)
2002
27
Disseminated porokeratosis with fatal metastatic squamous cell carcinoma: an additional case of "malignant disseminated porokeratosis". (11979075)
2002
28
Disseminated superficial actinic porokeratosis associated with topical PUVA. (11004640)
2000
29
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
30
Superficial disseminate porokeratosis in a patient with myelodysplastic syndrome. (10192166)
1999
31
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
32
Disseminated superficial actinic porokeratosis: treatment with topical tacalcitol. (10071323)
1999
33
Linear warty lesions in a child. Linear porokeratosis. (10606069)
1999
34
Genitoanocrural porokeratosis following chronic exposure to benzene. (9667106)
1998
35
A sporadic case of porokeratosis plantaris palmaris et disseminata. (9580830)
1998
36
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
37
Porokeratosis large skin lesions are susceptible to skin cancer development: histological and cytological explanation for the susceptibility. (8491759)
1993
38
Pseudoainhum in porokeratosis of Mibelli. (1563285)
1992
39
Porokeratosis of Mibelli and immunosuppression. (2025940)
1991
40
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
41
Porokeratosis of Mibelli in an immunosuppressed patient. (2952798)
1987
42
Squamous cell carcinoma in lesions of disseminated superficial actinic porokeratosis: a report of two cases. (3740866)
1986
43
Psoralens and ultraviolet A, immunosuppression, and porokeratosis. (3950130)
1986
44
Linear porokeratosis of Mibelli and DSAP. (3708898)
1986
45
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. (2933431)
1985
46
Reticulated porokeratosis. A unique variant of porokeratosis. (4062335)
1985
47
Porokeratosis Mibelli: a patient with oral manifestations. (3868178)
1985
48
Linear porokeratosis and other linear cutaneous eruptions of childhood. (517477)
1979
49
Linear porokeratosis of Mibelli. (5012146)
1972
50
Porokeratosis of Mibelli. (15395273)
1949

Variations for Porokeratosis

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Clinvar genetic disease variations for Porokeratosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
2MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019246

Expression for genes affiliated with Porokeratosis

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Search GEO for disease gene expression data for Porokeratosis.

Pathways for genes affiliated with Porokeratosis

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Pathways related to Porokeratosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TP53, NBN
29.9TP53, NBN
39.9TP53, NBN

Compounds for genes affiliated with Porokeratosis

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank, 59Tocris Bioscience
See all sources

Compounds related to Porokeratosis according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1collodion4310.1LOR, IVL
2farnesol43 28 24 1213.0MVK, IVL
3epsilon-(gamma-glutamyl)lysine4310.0IVL, LOR
4dithranol4310.0IVL, FLG
5arsenate439.9IVL, FLG
6methylmethanesulfonate439.9TP53, NBN
7hematoxylin439.8IVL, FLG, LOR
8histidine439.8MVK, LOR, FLG, FECH
9calcipotriol43 59 28 1212.7FLG, IVL
10proline439.4MVK, LOR, TP53, IVL
11retinoid439.2FLG, TP53, IVL
12retinoic acid43 249.8IVL, TP53, FLG, LOR, S100A7
13serine438.8IVL, NBN, TP53, FECH, FLG, LOR

GO Terms for genes affiliated with Porokeratosis

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Cellular components related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.8LOR, IVL
2replication forkGO:00056579.6TP53, NBN

Biological processes related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.8LOR, IVL
2DNA damage response, signal transduction by p53 class mediatorGO:00303309.8NBN, TP53
3peptide cross-linkingGO:00181499.5LOR, IVL
4keratinocyte differentiationGO:00302169.1S100A7, LOR, FLG, IVL

Molecular functions related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:00306749.8LOR, IVL
2damaged DNA bindingGO:00036849.6TP53, NBN
3structural molecule activityGO:00051989.5LOR, FLG, IVL

Products for genes affiliated with Porokeratosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Porokeratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet