MCID: PRK001
MIFTS: 48

Porokeratosis

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Porokeratosis

MalaCards integrated aliases for Porokeratosis:

Name: Porokeratosis 12 37 55 44 15
Disseminated Superficial Actinic Porokeratosis 12 53 59 37
Porokeratosis, Disseminated Superficial Actinic, 1 73
Porokeratosis, Disseminated Superficial Actinic 73
Porokeratosis of Mibelli 73
Dsap 53

Characteristics:

Orphanet epidemiological data:

59
disseminated superficial actinic porokeratosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3805
ICD10 33 L56.5
ICD9CM 35 692.75
MeSH 44 D017499
NCIt 50 C85019
Orphanet 59 ORPHA79152
UMLS via Orphanet 74 C0265970
ICD10 via Orphanet 34 Q82.8

Summaries for Porokeratosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to porokeratosis 1, multiple types and linear porokeratosis. 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, and related phenotypes are porokeratosis and cutaneous photosensitivity

Wikipedia : 76 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 110)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 35.0 MVK PMVK
2 linear porokeratosis 33.7 FDPS MVD MVK PMVK SLC17A9
3 punctate porokeratosis 33.6 FDPS MVD MVK PMVK SLC17A9
4 psoriasis 27.7 FLG IVL LOR S100A7
5 porokeratosis 3, multiple types 12.5
6 porokeratosis 2, palmar, plantar, and disseminated type 12.4
7 porokeratosis 7, multiple types 12.4
8 porokeratosis 8, disseminated superficial actinic type 12.4
9 porokeratosis 9, multiple types 12.3
10 porokeratosis 4, disseminated superficial actinic type 12.3
11 porokeratosis 5, disseminated superficial actinic type 12.3
12 porokeratosis 6, multiple types 12.3
13 cdags syndrome 11.9
14 palmoplantar keratoderma, punctate type ii 11.5
15 squamous cell carcinoma 10.4
16 hepatitis 10.0
17 lymphoma 10.0
18 keratosis 9.9
19 amyloidosis 9.9
20 bowen's disease 9.9
21 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
22 hepatitis c virus 9.9
23 myelodysplastic syndrome 9.9
24 craniosynostosis 9.9
25 hepatitis c 9.9
26 dermatitis 9.9
27 pemphigus 9.9
28 lichen planus 9.9
29 cholangiocarcinoma 9.8
30 diabetes mellitus 9.8
31 leukemia 9.8
32 liver disease 9.8
33 pemphigus foliaceus 9.8
34 thrombocytopenia 9.8
35 cutaneous t cell lymphoma 9.8
36 mucositis 9.8
37 melanoma 9.8
38 pseudoainhum 9.8
39 dermatitis, atopic, 2 9.7 FLG LOR
40 biliary cirrhosis, primary, 1 9.6
41 colorectal cancer 9.6
42 hepatocellular carcinoma 9.6
43 esophageal cancer 9.6
44 systemic lupus erythematosus 9.6
45 ovarian cancer 9.6
46 pemphigus vulgaris, familial 9.6
47 protoporphyria, erythropoietic 9.6
48 rheumatoid arthritis 9.6
49 cystic fibrosis 9.6
50 nijmegen breakage syndrome 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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 porokeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200044
2 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
3 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
4 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
5 hyperkeratosis 32 hallmark (90%) HP:0000962
6 abnormality of skin pigmentation 32 frequent (33%) HP:0001000
7 dermal atrophy 32 frequent (33%) HP:0004334
8 squamous cell carcinoma of the skin 32 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

Anatomical Context for Porokeratosis

MalaCards organs/tissues related to Porokeratosis:

41
Skin, Bone, Bone Marrow, T Cells, Colon, Liver, Testes

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 670)
# Title Authors Year
1
Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. ( 29693064 )
2018
2
Pediatric penile porokeratosis: A case report. ( 29341221 )
2018
3
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. ( 29722423 )
2018
4
Amelanotic melanoma arising within a lesion of disseminated superficial actinic porokeratosis: An unusual presentation leading to a novel therapeutic approach. ( 28976625 )
2018
5
Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders. ( 29484012 )
2018
6
Disseminated Superficial Actinic Porokeratosis in a Vitiligo Patient Undergoing Treatment with Long-Term Narrowband Ultraviolet B. ( 29606833 )
2018
7
Generalized linear porokeratosis. ( 29924219 )
2018
8
Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. ( 29606819 )
2018
9
Temozolomide-induced inflammation of disseminated superficial actinic porokeratosis. ( 29634886 )
2018
10
Genitogluteal porokeratosis: a clinical review. ( 29750048 )
2018
11
A report and follow up of a patient with disseminated superficial actinic porokeratosis (DSAP) undergoing novel systemic treatment with palifermin (a keratinocyte growth factor) during chemotherapy. ( 29630163 )
2018
12
Disseminated filiform hyperkeratosis - a variant of porokeratosis? ( 29706025 )
2018
13
Genitogluteal porokeratosis in an HIV-positive man: a case report and review of the literature on genital porokeratosis. ( 29634882 )
2018
14
Overexpression of S100A7 protein is an integral part of abnormal epidermal differentiation in cornoid lamella of porokeratosis. ( 29231238 )
2018
15
Acral porokeratosis associated with anonychia. ( 29271370 )
2018
16
Linear porokeratosis associated with multiple squamous cell carcinomas. ( 29232434 )
2017
17
Follicular porokeratosis: a case study and literature review. ( 28677581 )
2017
18
Enhanced dendritic cells and regulatory T cells in the dermis of porokeratosis. ( 28894928 )
2017
19
Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review. ( 28922948 )
2017
20
Disseminated Superficial Actinic Porokeratosis ( 29083728 )
2017
21
A Case of Eruptive Disseminated Porokeratosis in a Cancer Patient after Trastuzumab and Exemestane Treatment: Cancer Related or Drug Induced Phenomenon? ( 29221608 )
2017
22
Porokeratosis Ptychotropica Coexisting with Tinea Corporis. ( 28761308 )
2017
23
Follicular porokeratosis: four new cases. ( 28748571 )
2017
24
Unilateral verrucous porokeratosis of the gluteal cleft. ( 28632808 )
2017
25
Acquired disseminated superficial porokeratosis in a patient affected by chronic lymphocitic leukemia. ( 28906091 )
2017
26
Onychodystrophy due to porokeratosis of Mibelli: a rare association. ( 28632889 )
2017
27
Treatment of disseminated superficial actinic porokeratosis with oral alitretinoin. ( 28543730 )
2017
28
Dermoscopy of Porokeratosis of Mibelli. ( 28761862 )
2017
29
Oral involvement in disseminated superficial porokeratosis. ( 28071607 )
2017
30
Image Gallery: Porokeratosis under the dermoscopic furrow ink test and ultraviolet light. ( 29052887 )
2017
31
A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family. ( 28543715 )
2017
32
Successful Use of Grenz Rays for Disseminated Superficial Actinic Porokeratosis: Report of 8 Cases. ( 28817832 )
2017
33
Inflammatory disseminated superficial porokeratosis successfully controlled with a combination of topical diclofenac gel and systemic etretinate. ( 29194784 )
2017
34
Ink-enhanced dermoscopy is a useful tool to differentiate acquired solitary plaque porokeratosis from other scaly lesions. ( 29221722 )
2017
35
Disseminated superficial actinic porokeratosis treated with ingenol mebutate gel 0.05. ( 28398427 )
2017
36
Genitogluteal Porokeratosis in a Well Woman. ( 28027122 )
2017
37
Hyperkeratotic porokeratosis ptychotropica with satellite lesions: a rare presentation of an unusual variant of porokeratosis. ( 29264903 )
2017
38
Porokeratosis ptychotropica responding to photodynamic therapy: An alternative treatment for a refractory disease. ( 28580653 )
2017
39
Porokeratosis ptychotropica: A giant lesion in a Chinese man. ( 28664560 )
2017
40
Giant Porokeratosis With Malignant Transformation to Squamous Cell Carcinoma. ( 29293104 )
2017
41
Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis. ( 28685731 )
2017
42
Porokeratosis ptychotropica: a diagnostic and therapeutic challenge. ( 28940636 )
2017
43
p16(INK4a) Expression in Porokeratosis. ( 28566925 )
2017
44
Pruriginous follicular porokeratosis. ( 28640501 )
2017
45
Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli. ( 28736818 )
2017
46
Dermoscopy in assisting the diagnosis of linear porokeratosis. ( 28557045 )
2017
47
Genital porokeratosis with amyloid deposition mimicking extramammary Paget disease. ( 28071814 )
2017
48
Pigmented Porokeratosis. A Further Variant? ( 26894774 )
2016
49
Interface dermatitis without cornoid lamellae is a pitfall in the diagnosis of porokeratosis: A report of three cases. ( 26728816 )
2016
50
Giant porokeratosis with overlying cutaneous horn and squamous cell carcinoma. ( 27297269 )
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.746T> C (p.Phe249Ser) single nucleotide variant Pathogenic rs761991070 GRCh38 Chromosome 16, 88655350: 88655350
3 MVD NM_002461.2(MVD): c.875A> G (p.Asn292Ser) single nucleotide variant Pathogenic rs755948940 GRCh38 Chromosome 16, 88655221: 88655221
4 MVD NM_002461.2(MVD): c.875A> G (p.Asn292Ser) single nucleotide variant Pathogenic rs755948940 GRCh37 Chromosome 16, 88721629: 88721629

Expression for Porokeratosis

Search GEO for disease gene expression data for Porokeratosis.

Pathways for Porokeratosis

Pathways related to Porokeratosis according to KEGG:

37
# 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 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.89 BRCA1 FDPS MVD MVK PMVK
2 steroid metabolic process GO:0008202 9.76 FDPS MVD MVK PMVK
3 cholesterol metabolic process GO:0008203 9.73 FDPS MVD MVK PMVK
4 keratinocyte differentiation GO:0030216 9.71 FLG IVL LOR S100A7
5 cornification GO:0070268 9.69 FLG IVL LOR
6 steroid biosynthetic process GO:0006694 9.67 FDPS MVD MVK PMVK
7 peptide cross-linking GO:0018149 9.65 FLG IVL LOR
8 cholesterol biosynthetic process GO:0006695 9.62 FDPS MVD MVK PMVK
9 regulation of cholesterol biosynthetic process GO:0045540 9.56 FDPS MVD MVK PMVK
10 sterol biosynthetic process GO:0016126 9.46 FDPS MVD MVK PMVK
11 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.13 MVD MVK PMVK
12 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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