MCID: PRK001
MIFTS: 46

Porokeratosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

About this section
Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 36MeSH, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 10 47 12 36
Disseminated Superficial Actinic Porokeratosis 10 45 51
Porokeratosis, Disseminated Superficial Actinic, 1 65
Porokeratosis, Disseminated Superficial Actinic 65
 
Porokeratosis of Mibelli 65
Porokeratosis, Nos 10
Dsap 45

Characteristics:

Orphanet epidemiological data:

51
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:3805
ICD1027 L56.5
ICD9CM29 692.75
MeSH36 D017499
NCIt42 C85019
Orphanet51 79152
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0265970
UMLS65 C0162839, C0265970, C0949506 C1867981, more

Summaries for Porokeratosis

About this section
NIH Rare Diseases:45 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 porokeratosis, disseminated superficial actinic 2 and linear porokeratosis, 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 Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Affiliated tissues include skin, prostate and liver.

Wikipedia:68 Porokeratosis (or parakeratosis) is a specific disorder of keratinization that is characterized... more...

Related Diseases for Porokeratosis

About this section

Diseases in the Porokeratosis family:

Porokeratosis 9, Multiple Types Porokeratosis 7, Multiple Types

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1porokeratosis, disseminated superficial actinic 232.0EMILIN2, FDPS, MVD, MVK, PMVK, SLC17A9
2linear porokeratosis12.2
3porokeratosis of mibelli12.2
4porokeratosis 3, disseminated superficial actinic12.2
5punctate porokeratosis12.2
6porokeratosis 7, multiple types12.1
7porokeratosis 8, disseminated superficial actinic type12.1
8porokeratosis plantaris palmaris et disseminata12.1
9porokeratosis 9, multiple types12.0
10cdags syndrome11.4
11punctate palmoplantar keratoderma type 210.9
12psoriasis10.2
13hepatitis10.0
14lymphoma10.0
15amyloidosis10.0
16linear scleroderma9.9FDPS, MVD, MVK, PMVK, SLC17A9
17hepatitis c virus9.9
18myelodysplastic syndrome9.9
19craniosynostosis9.9
20keratosis9.9
21hepatitis c9.9
22dermatitis9.9
23pemphigus9.9
24lichen planus9.9
25pura syndrome9.9FDPS, MVD, MVK, PMVK, SLC17A9
26cholangiocarcinoma9.8
27liver disease9.8
28pemphigus foliaceus9.8
29cutaneous t cell lymphoma9.8
30pseudoainhum9.8
31braddock syndrome9.7FLG, IVL
32rheumatoid arthritis9.7
33colorectal cancer9.7
34systemic lupus erythematosus9.7
35hepatocellular carcinoma9.7
36esophageal cancer9.7
37cystic fibrosis9.7
38nijmegen breakage syndrome9.7
39rothmund-thomson syndrome9.7
40multiple myeloma9.7
41pseudoxanthoma elasticum9.7
42arthritis9.7
43b-cell lymphomas9.7
44burn scar9.7
45burns9.7
46crohn's disease9.7
47diffuse large b-cell lymphoma9.7
48follicular lymphoma9.7
49glomerulonephritis9.7
50hemangioma9.7

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

About this section

Symptoms:

 51 (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

UMLS symptoms related to Porokeratosis:


exanthema

Drugs & Therapeutics for Porokeratosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunwald-giemsa Stained Tissue SmearCompletedNCT00218868

Search NIH Clinical Center for Porokeratosis


Cochrane evidence based reviews: porokeratosis

Genetic Tests for Porokeratosis

About this section

Anatomical Context for Porokeratosis

About this section

MalaCards organs/tissues related to Porokeratosis:

33
Skin, Prostate, Liver, Heart, B cells, Lung, Bone

Animal Models for Porokeratosis or affiliated genes

About this section

Publications for Porokeratosis

About this section

Articles related to Porokeratosis:

(show top 50)    (show all 602)
idTitleAuthorsYear
1
Pigmented Porokeratosis. A Further Variant? (26894774)
2016
2
Disseminated superficial porokeratosis involving the groin and genitalia in a 72-year-old immunocompetent man. (27051752)
2015
3
Genital Porokeratosis: A Distinct Clinical Variant? (26120171)
2015
4
Inflammatory Disseminated Pruritic Porokeratosis With a Good Response to Ciclosporin. (26546028)
2015
5
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. (24781643)
2014
6
Porokeratosis ptychotropica: a rare variant of porokeratosis. (24945649)
2014
7
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. (24553841)
2014
8
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. (24898929)
2014
9
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
10
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
11
Split-face trial of CO(2) laser-induced ring abrasion and high-dose tacalcitol in the treatment of disseminated superficial actinic porokeratosis. (22220840)
2012
12
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
13
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
14
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
15
Disseminated superficial porokeratosis developed by immunosuppression due to rheumatoid arthritis treatment. (19691753)
2009
16
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
17
Porokeratosis: Two Faces, One Family. (20652115)
2009
18
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
19
Unusual evolution of giant porokeratosis developing in two renal transplant patients. (18613889)
2008
20
Treatment of disseminated superficial actinic porokeratosis with topical diclofenac gel: a case series. (18554227)
2008
21
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
22
Porokeratosis confined to the genital area: a report of three cases. (18193505)
2008
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
Genitoanocrural porokeratosis following chronic exposure to benzene. (9667106)
1998
32
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
33
Porokeratosis large skin lesions are susceptible to skin cancer development: histological and cytological explanation for the susceptibility. (8491759)
1993
34
Cutaneous T-cell lymphoma with porokeratosis-like lesions. (1517498)
1992
35
Pseudoainhum in porokeratosis of Mibelli. (1563285)
1992
36
Porokeratosis of Mibelli and immunosuppression. (2025940)
1991
37
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
38
Porokeratosis of Mibelli in an immunosuppressed patient. (2952798)
1987
39
Squamous cell carcinoma in lesions of disseminated superficial actinic porokeratosis: a report of two cases. (3740866)
1986
40
Annular hyperkeratosis. Porokeratosis of Mibelli. (3707178)
1986
41
Psoralens and ultraviolet A, immunosuppression, and porokeratosis. (3950130)
1986
42
Linear porokeratosis of Mibelli and DSAP. (3708898)
1986
43
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. (2933431)
1985
44
Reticulated porokeratosis. A unique variant of porokeratosis. (4062335)
1985
45
Porokeratosis Mibelli: a patient with oral manifestations. (3868178)
1985
46
Linear porokeratosis and other linear cutaneous eruptions of childhood. (517477)
1979
47
Linear porokeratosis of Mibelli. (5012146)
1972
48
Porokeratosis of Mibelli. (15395273)
1949
49
50

Variations for Porokeratosis

About this section

Clinvar genetic disease variations for Porokeratosis:

5
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: 110019245

Expression for genes affiliated with Porokeratosis

About this section
Search GEO for disease gene expression data for Porokeratosis.

Pathways for genes affiliated with Porokeratosis

About this section

GO Terms for genes affiliated with Porokeratosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:000577710.1MVD, MVK, PMVK
2cytoplasmGO:00057378.0FDPS, IVL, LOR, PMVK, S100A7, SART3

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

idNameGO IDScoreTop Affiliating Genes
1isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:001928710.3MVD, PMVK
2isoprenoid biosynthetic processGO:000829910.2MVK, PMVK
3cholesterol biosynthetic processGO:00066959.8FDPS, PMVK
4phosphorylationGO:00163109.5MVK, PMVK

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.4FLG, IVL, LOR

Sources for Porokeratosis

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