MCID: PRK001
MIFTS: 44

Porokeratosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 11 27 50 39 13
Disseminated Superficial Actinic Porokeratosis 11 48 54
Porokeratosis, Disseminated Superficial Actinic, 1 68
Porokeratosis, Disseminated Superficial Actinic 68
 
Porokeratosis of Mibelli 68
Porokeratosis, Nos 11
Dsap 48

Characteristics:

Orphanet epidemiological data:

54
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:3805
ICD1030 L56.5
ICD9CM32 692.75
MeSH39 D017499
NCIt45 C85019
Orphanet54 ORPHA79152
UMLS via Orphanet69 C0265970
ICD10 via Orphanet31 Q82.8

Summaries for Porokeratosis

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NIH Rare Diseases:48 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 3, disseminated superficial actinic and porokeratosis 7, multiple types, and has symptoms including hyperkeratosis, hypohidrosis and aplasia/hypoplasia of the skin. An important gene associated with Porokeratosis is PMVK (Phosphomevalonate Kinase), and among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Affiliated tissues include skin, bone and bone marrow.

Wikipedia:71 Porokeratosis (or parakeratosis) is a specific disorder of keratinization that is characterized... more...

Related Diseases for Porokeratosis

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Diseases in the Porokeratosis family:

Porokeratosis 3, Multiple Types 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 91)
idRelated DiseaseScoreTop Affiliating Genes
1porokeratosis 3, disseminated superficial actinic12.3
2porokeratosis 7, multiple types12.3
3porokeratosis 8, disseminated superficial actinic type12.3
4porokeratosis 2, palmar, plantar, and disseminated type12.2
5porokeratosis 9, multiple types12.2
6linear porokeratosis12.0
7porokeratosis of mibelli12.0
8punctate porokeratosis11.9
9porokeratosis, disseminated superficial actinic 211.8
10porokeratosis 3, multiple types11.7
11cdags syndrome11.3
12punctate palmoplantar keratoderma type 210.7
13psoriasis10.1
14foix chavany marie syndrome10.0FDPS, MVD, MVK, PMVK, SLC17A9
15positive rheumatoid factor polyarthritis10.0FDPS, MVD, MVK, PMVK, SLC17A9
16acute poisoning by drugs with membrane-stabilizing effect10.0FLG, IVL
17rectosigmoid junction neoplasm10.0FLG, LOR
18fasciolopsiasis9.9FLG, LOR
19hypertrophic or verrucous lupus erythematosus9.9FLG, IVL
20hepatitis9.9
21lymphoma9.9
22keratosis9.8
23amyloidosis9.8
24renal hypodysplasia9.8FLG, IVL
25hepatitis c virus9.8
26myelodysplastic syndrome9.8
27craniosynostosis9.8
28hepatitis c9.8
29dermatitis9.8
30pemphigus9.8
31lichen planus9.8
32bowen's disease9.8
33peritoneum cancer9.7FLG, IVL
34liver disease9.7
35pemphigus foliaceus9.7
36cutaneous t cell lymphoma9.7
37pseudoainhum9.7
38ichthyosis vulgaris9.6FLG, LOR
39cystic basal cell carcinoma9.6FLG, IVL, LOR
40portal hypertension due to infrahepatic block9.6EMILIN2, FDPS, MVD, MVK, PMVK, SLC17A9
41steroid inherited metabolic disorder9.6FLG, IVL, LOR
42small non-cleaved cell lymphoma9.6FLG, IVL, LOR
43rheumatoid arthritis9.5
44colorectal cancer9.5
45systemic lupus erythematosus9.5
46hepatocellular carcinoma9.5
47esophageal cancer9.5
48cystic fibrosis9.5
49nijmegen breakage syndrome9.5
50rothmund-thomson syndrome9.5

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms & Phenotypes for Porokeratosis

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Human phenotypes related to Porokeratosis:

 64 54 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis64 hallmark (90%) HP:0000962
2 hypohidrosis64 hallmark (90%) HP:0000966
3 aplasia/hypoplasia of the skin64 hallmark (90%) HP:0008065
4 pruritus64 54 typical (50%) Occasional (29-5%) HP:0000989
5 cutaneous photosensitivity64 typical (50%) HP:0000992
6 abnormality of skin pigmentation64 typical (50%) HP:0001000
7 neoplasm of the skin64 occasional (7.5%) HP:0008069
8 squamous cell carcinoma54 Occasional (29-5%)
9 porokeratosis54 Very frequent (99-80%)

UMLS symptoms related to Porokeratosis:


exanthema

Drugs & Therapeutics for Porokeratosis

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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

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Genetic tests related to Porokeratosis:

id Genetic test Affiliating Genes
1 Porokeratosis27

Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

36
Skin, Bone, Bone marrow, T cells, Colon, Liver, B cells

Publications for Porokeratosis

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Articles related to Porokeratosis:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
Oral involvement in disseminated superficial porokeratosis. (28071607)
2017
2
Genitogluteal Porokeratosis in a Well Woman. (28027122)
2017
3
Genital porokeratosis with amyloid deposition mimicking extramammary Paget disease. (28071814)
2017
4
Pigmented Porokeratosis. A Further Variant? (26894774)
2016
5
A Case of Psoriasis Encircled by Porokeratosis. (27904191)
2016
6
Two cases of disseminated superficial actinic porokeratosis treated with daylight-mediated photodynamic therapy. (27502333)
2016
7
Disseminated superficial actinic porokeratosis (DSAP): significant improvement after local administration of calcipotriol/betamethasone gel? (27468973)
2016
8
Disseminated superficial actinic porokeratosis improved with fractional 1927-nm laser treatments. (26820042)
2016
9
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. (27579746)
2016
10
Keratoacanthoma Arising Over Margin of Porokeratosis of Mibelli: A New Association? (26955114)
2016
11
Eruptive Disseminated Porokeratosis in a Patient With Type 2 Diabetes Mellitus. (27043338)
2016
12
Interface dermatitis without cornoid lamellae is a pitfall in the diagnosis of porokeratosis: A report of three cases. (26728816)
2016
13
Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. (27052676)
2016
14
Giant porokeratosis with overlying cutaneous horn and squamous cell carcinoma. (27297269)
2016
15
Porokeratosis of Mibelli: case report of an uncommon penile lesion. (27338161)
2016
16
Disseminated Superficial Actinic Porokeratosis. (27013090)
2016
17
Dermoscopy of Disseminated Superficial Actinic Porokeratosis. (27015657)
2016
18
Unilateral generalized linear porokeratosis with nail dystrophy. (26589366)
2016
19
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis. (26794421)
2016
20
Facial solar porokeratosis. (26858047)
2016
21
Multiple aktinische Keratosen durch berufliche UV-Exposition auf dem Boden einer Porokeratosis superficialis disseminata actinica (Chernosky-Freeman). (27992150)
2016
22
Diagnosing porokeratosis of Mibelli every time: a novel biopsy technique to maximize histopathologic confirmation. (27023081)
2016
23
Eruptive angiokeratomas and porokeratosis in the setting of sclerodermatous graft-vs.-host disease. (26957361)
2016
24
Successful management of disseminated superficial actinic porokeratosis with diclofenac sodium 3% gel. (27859984)
2016
25
Correction: Genomic variations of the mevalonate pathway in porokeratosis. (26816331)
2016
26
Multiple actinic keratoses induced by occupational UV exposure in a patient with preexisting disseminated superficial actinic porokeratosis (Chernosky-Freeman). (27935255)
2016
27
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis. (27422687)
2016
28
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. (27086492)
2016
29
Wood's lamp image of porokeratosis. (27981645)
2016
30
Mycosis fungoides patient accompanied actinic keratosis, actinic keratosis with squamous cell carcinoma transformation, and porokeratosis after NBUVB therapy - 1st case report and review of the literature. (27741114)
2016
31
Clinical and dermatoscopic features of porokeratosis palmaris et plantaris. (27559506)
2016
32
Facial solar porokeratosis. (27088949)
2016
33
Genital Porokeratosis: A Distinct Clinical Variant? (26120171)
2015
34
Porokeratosis - Head to toe: An unusual presentation. (25821731)
2015
35
Coexistence of multiple variants of porokeratosis. (25994898)
2015
36
Eruptive disseminated porokeratosis associated with corticosteroid-induced immunosuppression. (25800103)
2015
37
Disseminated superficial actinic porokeratosis accentuated by spray tan. (26340978)
2015
38
Genomic variations of the mevalonate pathway in porokeratosis. (26202976)
2015
39
Cutaneous sarcoidosis simulating porokeratosis of Mibelli. (26113926)
2015
40
Porokeratosis ptychotropica: a rare variant with discrete lesions. (25688706)
2015
41
Porokeratosis and malignancy: Incidental or causal association? (26753153)
2015
42
Photoletter to the editor: Response of linear porokeratosis to photodynamic therapy in an 11-year-old girl. (26848323)
2015
43
Disseminated superficial porokeratosis with dermal amyloid deposits in an elderly man: a rare entity. (25761512)
2015
44
Interface dermatitis without cornoid lamellae is a pitfall in the diagnosis of porokeratosis: A report of three cases. (26261153)
2015
45
Punctate Porokeratosis Palmaris et Plantaris. (26120157)
2015
46
Disseminated superficial porokeratosis involving the groin and genitalia in a 72-year-old immunocompetent man. (27051752)
2015
47
Inflammatory Disseminated Pruritic Porokeratosis With a Good Response to Ciclosporin. (26546028)
2015
48
Follicular porokeratosis of the nose: two further cases of an emerging variant of porokeratosis. (26126043)
2015
49
Porokeratosis ptychotropica of the scrotum: dermoscopic evaluation of an atypical presentation. (26312713)
2015
50
Penoscrotal porokeratosis: A distinct entity. (26500866)
2015

Variations for Porokeratosis

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Clinvar genetic disease variations for Porokeratosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PMVKNM_006556.3(PMVK): c.412C> T (p.Arg138Ter)SNVPathogenicrs745983207GRCh38Chr 1, 154926384: 154926384
2PMVKNM_006556.3(PMVK): c.550delC (p.Leu184Terfs)deletionPathogenicrs879255607GRCh38Chr 1, 154925158: 154925158
3MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)SNVPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
4MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245

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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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
1peroxisomeGO:00057779.9MVD, MVK, PMVK

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

idNameGO IDScoreTop Affiliating Genes
1isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:001928710.4MVD, MVK, PMVK
2isoprenoid biosynthetic processGO:000829910.4MVD, MVK, PMVK
3cholesterol biosynthetic processGO:000669510.1FDPS, MVD, MVK, PMVK
4keratinocyte differentiationGO:00302169.2FLG, IVL, LOR, S100A7

Sources for Porokeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet