MCID: PRK001
MIFTS: 49

Porokeratosis

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Porokeratosis

MalaCards integrated aliases for Porokeratosis:

Name: Porokeratosis 12 36 28 51 41 14
Disseminated Superficial Actinic Porokeratosis 12 49 55 36
Porokeratosis, Disseminated Superficial Actinic, 1 69
Porokeratosis, Disseminated Superficial Actinic 69
Porokeratosis of Mibelli 69
Dsap 49

Characteristics:

Orphanet epidemiological data:

55
disseminated superficial actinic porokeratosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3805
ICD10 32 L56.5
ICD9CM 34 692.75
MeSH 41 D017499
NCIt 46 C85019
Orphanet 55 ORPHA79152
UMLS via Orphanet 70 C0265970
ICD10 via Orphanet 33 Q82.8

Summaries for Porokeratosis

NIH Rare Diseases : 49 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 1, multiple types and linear porokeratosis, and has symptoms including cutaneous photosensitivity, pruritus and squamous cell carcinoma. An important gene associated with Porokeratosis is MVD (Mevalonate Diphosphate Decarboxylase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Affiliated tissues include skin, bone and bone marrow.

Wikipedia : 72 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Related Diseases for Porokeratosis

Diseases in the Porokeratosis family:

Porokeratosis 1, Multiple Types Porokeratosis 3, Multiple Types
Porokeratosis 6, Multiple Types Porokeratosis 7, Multiple Types
Porokeratosis 9, Multiple Types

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 34.6 MVK PMVK
2 linear porokeratosis 33.7 FDPS MVD MVK PMVK SLC17A9
3 punctate porokeratosis 33.6 FDPS MVD MVK PMVK SLC17A9
4 squamous cell carcinoma 29.8 FGFR3 IVL S100A7 SART3
5 keratosis 29.2 FGFR3 FLG IVL
6 psoriasis 28.9 FLG IVL LOR S100A7
7 porokeratosis 3, multiple types 12.6
8 porokeratosis 2, palmar, plantar, and disseminated type 12.5
9 porokeratosis 4, disseminated superficial actinic type 12.4
10 porokeratosis 7, multiple types 12.4
11 porokeratosis 8, disseminated superficial actinic type 12.3
12 porokeratosis 9, multiple types 12.3
13 porokeratosis 5, disseminated superficial actinic type 12.3
14 porokeratosis 6, multiple types 12.3
15 cdags syndrome 11.9
16 palmoplantar keratoderma, punctate type ii 11.5
17 pustulosis of palm and sole 10.2
18 hepatitis 10.0
19 lymphoma 10.0
20 amyloidosis 9.9
21 bowen's disease 9.9
22 dermatitis, atopic, 2 9.9 FLG LOR
23 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
24 hepatitis c virus 9.9
25 myelodysplastic syndrome 9.9
26 craniosynostosis 9.9
27 allergic hypersensitivity disease 9.9
28 hepatitis c 9.9
29 dermatitis 9.9
30 pemphigus 9.9
31 lichen planus 9.9
32 discoid lupus erythematosus 9.8 FLG IVL
33 blood group, i system 9.8
34 cholangiocarcinoma 9.8
35 diabetes mellitus 9.8
36 leukemia 9.8
37 liver disease 9.8
38 pemphigus foliaceus 9.8
39 cutaneous t cell lymphoma 9.8
40 mucositis 9.8
41 melanoma 9.8
42 pseudoainhum 9.8
43 ichthyosis vulgaris 9.8 FLG LOR
44 palmoplantar keratoderma, nonepidermolytic 9.7 FLG LOR
45 biliary cirrhosis, primary, 1 9.6
46 colorectal cancer 9.6
47 hepatocellular carcinoma 9.6
48 cataract 32, multiple types 9.6
49 esophageal cancer 9.6
50 hypercalcemia, infantile, 1 9.6

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to Porokeratosis

Symptoms & Phenotypes for Porokeratosis

Human phenotypes related to Porokeratosis:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 porokeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0200044
2 cutaneous photosensitivity 55 31 frequent (33%) Frequent (79-30%) HP:0000992
3 pruritus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000989
4 squamous cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002860
5 hyperkeratosis 31 hallmark (90%) HP:0000962
6 abnormality of skin pigmentation 31 frequent (33%) HP:0001000
7 dermal atrophy 31 frequent (33%) HP:0004334
8 squamous cell carcinoma of the skin 31 occasional (7.5%) HP:0006739

Drugs & Therapeutics for Porokeratosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunwald-giemsa Stained Tissue Smear Completed NCT00218868

Search NIH Clinical Center for Porokeratosis

Cochrane evidence based reviews: porokeratosis

Genetic Tests for Porokeratosis

Genetic tests related to Porokeratosis:

# Genetic test Affiliating Genes
1 Porokeratosis 28

Anatomical Context for Porokeratosis

MalaCards organs/tissues related to Porokeratosis:

38
Skin, Bone, Bone Marrow, T Cells, Colon, Liver, Testes

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 650)
# Title Authors Year
1
Overexpression of S100A7 protein is an integral part of abnormal epidermal differentiation in cornoid lamella of porokeratosis. ( 29231238 )
2018
2
Acral porokeratosis associated with anonychia. ( 29271370 )
2018
3
Amelanotic melanoma arising within a lesion of disseminated superficial actinic porokeratosis: An unusual presentation leading to a novel therapeutic approach. ( 28976625 )
2018
4
Pediatric penile porokeratosis: A case report. ( 29341221 )
2018
5
Image Gallery: Porokeratosis under the dermoscopic furrow ink test and ultraviolet light. ( 29052887 )
2017
6
Porokeratosis ptychotropica: a diagnostic and therapeutic challenge. ( 28940636 )
2017
7
Genital porokeratosis with amyloid deposition mimicking extramammary Paget disease. ( 28071814 )
2017
8
Follicular porokeratosis: four new cases. ( 28748571 )
2017
9
p16(INK4a) Expression in Porokeratosis. ( 28566925 )
2017
10
Follicular porokeratosis: a case study and literature review. ( 28677581 )
2017
11
Genitogluteal Porokeratosis in a Well Woman. ( 28027122 )
2017
12
Pruriginous follicular porokeratosis. ( 28640501 )
2017
13
Porokeratosis Ptychotropica Coexisting with Tinea Corporis. ( 28761308 )
2017
14
Treatment of disseminated superficial actinic porokeratosis with oral alitretinoin. ( 28543730 )
2017
15
Dermoscopy of Porokeratosis of Mibelli. ( 28761862 )
2017
16
Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review. ( 28922948 )
2017
17
Enhanced dendritic cells and regulatory T cells in the dermis of porokeratosis. ( 28894928 )
2017
18
Onychodystrophy due to porokeratosis of Mibelli: a rare association. ( 28632889 )
2017
19
Porokeratosis ptychotropica responding to photodynamic therapy: An alternative treatment for a refractory disease. ( 28580653 )
2017
20
Successful Use of Grenz Rays for Disseminated Superficial Actinic Porokeratosis: Report of 8 Cases. ( 28817832 )
2017
21
Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli. ( 28736818 )
2017
22
Oral involvement in disseminated superficial porokeratosis. ( 28071607 )
2017
23
A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family. ( 28543715 )
2017
24
Linear porokeratosis associated with multiple squamous cell carcinomas. ( 29232434 )
2017
25
Dermoscopy in assisting the diagnosis of linear porokeratosis. ( 28557045 )
2017
26
Unilateral verrucous porokeratosis of the gluteal cleft. ( 28632808 )
2017
27
Inflammatory disseminated superficial porokeratosis successfully controlled with a combination of topical diclofenac gel and systemic etretinate. ( 29194784 )
2017
28
A Case of Eruptive Disseminated Porokeratosis in a Cancer Patient after Trastuzumab and Exemestane Treatment: Cancer Related or Drug Induced Phenomenon? ( 29221608 )
2017
29
Hyperkeratotic porokeratosis ptychotropica with satellite lesions: a rare presentation of an unusual variant of porokeratosis. ( 29264903 )
2017
30
Acquired disseminated superficial porokeratosis in a patient affected by chronic lymphocitic leukemia. ( 28906091 )
2017
31
Giant Porokeratosis With Malignant Transformation to Squamous Cell Carcinoma. ( 29293104 )
2017
32
Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis. ( 28685731 )
2017
33
Porokeratosis ptychotropica: A giant lesion in a Chinese man. ( 28664560 )
2017
34
Disseminated Superficial Actinic Porokeratosis ( 29083728 )
2017
35
Ink-enhanced dermoscopy is a useful tool to differentiate acquired solitary plaque porokeratosis from other scaly lesions. ( 29221722 )
2017
36
A Case of Psoriasis Encircled by Porokeratosis. ( 27904191 )
2016
37
Correction: Genomic variations of the mevalonate pathway in porokeratosis. ( 26816331 )
2016
38
Disseminated superficial actinic porokeratosis (DSAP): significant improvement after local administration of calcipotriol/betamethasone gel? ( 27468973 )
2016
39
Wood's lamp image of porokeratosis. ( 27981645 )
2016
40
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis. ( 26794421 )
2016
41
Eruptive Disseminated Porokeratosis in a Patient With Type 2 Diabetes Mellitus. ( 27043338 )
2016
42
Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. ( 27052676 )
2016
43
Pigmented Porokeratosis. A Further Variant? ( 26894774 )
2016
44
Multiple actinic keratoses induced by occupational UV exposure in a patient with preexisting disseminated superficial actinic porokeratosis (Chernosky-Freeman). ( 27935255 )
2016
45
Porokeratosis simulating Bowen's disease on dermoscopy. ( 28300916 )
2016
46
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. ( 27579746 )
2016
47
Two cases of disseminated superficial actinic porokeratosis treated with daylight-mediated photodynamic therapy. ( 27502333 )
2016
48
Disseminated Superficial Actinic Porokeratosis. ( 27013090 )
2016
49
Disseminated superficial actinic porokeratosis improved with fractional 1927-nm laser treatments. ( 26820042 )
2016
50
Porokeratosis of Mibelli: case report of an uncommon penile lesion. ( 27338161 )
2016

Variations for Porokeratosis

ClinVar genetic disease variations for Porokeratosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MVD NM_002461.2(MVD): c.746T> C (p.Phe249Ser) single nucleotide variant Pathogenic rs761991070 GRCh37 Chromosome 16, 88721758: 88721758
2 MVD NM_002461.2(MVD): c.875A> G (p.Asn292Ser) single nucleotide variant Pathogenic rs755948940 GRCh38 Chromosome 16, 88655221: 88655221

Expression for Porokeratosis

Search GEO for disease gene expression data for Porokeratosis.

Pathways for Porokeratosis

Pathways related to Porokeratosis according to KEGG:

36
# Name Kegg Source Accession
1 Terpenoid backbone biosynthesis hsa00900

GO Terms for Porokeratosis

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

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.13 MVD MVK PMVK
2 cornified envelope GO:0001533 8.8 FLG IVL LOR

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.76 FDPS MVD MVK PMVK
2 cholesterol metabolic process GO:0008203 9.73 FDPS MVD MVK PMVK
3 keratinocyte differentiation GO:0030216 9.71 FLG IVL LOR S100A7
4 cornification GO:0070268 9.67 FLG IVL LOR
5 steroid biosynthetic process GO:0006694 9.67 FDPS MVD MVK PMVK
6 peptide cross-linking GO:0018149 9.65 FLG IVL LOR
7 cholesterol biosynthetic process GO:0006695 9.62 FDPS MVD MVK PMVK
8 regulation of cholesterol biosynthetic process GO:0045540 9.56 FDPS MVD MVK PMVK
9 sterol biosynthetic process GO:0016126 9.46 FDPS MVD MVK PMVK
10 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.13 MVD MVK PMVK
11 isoprenoid biosynthetic process GO:0008299 8.92 FDPS MVD MVK PMVK

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

# Name GO ID Score Top Affiliating Genes
1 transition metal ion binding GO:0046914 8.96 FLG S100A7
2 structural constituent of epidermis GO:0030280 8.62 FLG LOR

Sources for Porokeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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