DSAP
MCID: PRK001
MIFTS: 48

Porokeratosis (DSAP)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin 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
SNOMED-CT 68 41495000 80432009
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, scaly 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 lower arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions generally are more prominent in the summer and less prominent in the winter. While it is usually benign (not cancerous), squamous cell carcinoma or Bowen´┐Ż??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. There is no standard treatment for DSAP, and treatment is generally not effective long-term. Sun avoidance may reduce the development of new patches. Treatments that have been beneficial in some people include topical imiquimod cream, topical 5-fluorouracil, and topical vitamin D analogs such as tacalcitol and calcipotriol. Other therapies that have been tested with varying results include cryotherapy, electrodessication (using electrical currents to remove patches), laser ablation, and 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, testes and bone, and related phenotypes are pruritus 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 111)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 34.5 MVK PMVK
2 linear porokeratosis 33.9 FDPS MVD MVK PMVK SLC17A9
3 punctate porokeratosis 33.8 FDPS MVD MVK PMVK SLC17A9
4 psoriasis 29.9 FLG IVL LOR S100A7
5 porokeratosis 3, multiple types 12.6
6 porokeratosis 2, palmar, plantar, and disseminated type 12.6
7 porokeratosis 7, multiple types 12.6
8 porokeratosis 8, disseminated superficial actinic type 12.5
9 porokeratosis 9, multiple types 12.5
10 porokeratosis 4, disseminated superficial actinic type 12.5
11 porokeratosis 5, disseminated superficial actinic type 12.4
12 porokeratosis 6, multiple types 12.4
13 cdags syndrome 12.0
14 palmoplantar keratoderma, punctate type ii 11.7
15 squamous cell carcinoma 10.5
16 hepatitis 10.2
17 keratosis 10.2
18 lymphoma 10.1
19 amyloidosis 10.1
20 bowen's disease 10.1
21 hepatitis c virus 10.1
22 hepatitis c 10.1
23 pemphigus 10.1
24 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
25 myelodysplastic syndrome 10.0
26 craniosynostosis 10.0
27 dermatitis 10.0
28 lichen planus 10.0
29 viral infectious disease 10.0
30 pre-malignant neoplasm 10.0 BRCA1 S100A7
31 dermatitis, atopic, 2 9.9 FLG LOR
32 pemphigus vulgaris, familial 9.9
33 mycosis fungoides 9.9
34 cholangiocarcinoma 9.9
35 diabetes mellitus 9.9
36 leukemia 9.9
37 liver disease 9.9
38 pemphigus foliaceus 9.9
39 pemphigus vulgaris 9.9
40 thrombocytopenia 9.9
41 cutaneous t cell lymphoma 9.9
42 melanoma 9.9
43 pseudoainhum 9.9
44 discoid lupus erythematosus 9.9 FLG IVL
45 clear cell acanthoma 9.9 FLG IVL
46 lichen disease 9.9 FLG IVL
47 molluscum contagiosum 9.8 FLG LOR
48 ichthyosis vulgaris 9.8 FLG LOR
49 biliary cirrhosis, primary, 1 9.8
50 colorectal cancer 9.8

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 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
2 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
3 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
4 porokeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200044
5 hyperkeratosis 32 hallmark (90%) HP:0000962
6 abnormality of skin pigmentation 32 frequent (33%) HP:0001000
7 squamous cell carcinoma of the skin 32 occasional (7.5%) HP:0006739
8 dermal atrophy 32 frequent (33%) HP:0004334

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, Testes, Bone, Bone Marrow, T Cells, Liver, B Cells

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 774)
# 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
Erratum: Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. ( 29983490 )
2018
17
Pigmented porokeratosis with dermal deposits of amyloid: the different chromatic features. ( 29998707 )
2018
18
Improved effect on 2 cases of disseminated superficial actinic porokeratosis with daylight photodynamic therapy. ( 30076993 )
2018
19
A case of bullous eruptive disseminated porokeratosis. ( 30187499 )
2018
20
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. ( 30264904 )
2018
21
Porokeratosis Ptychotropica on the Penis and Scrotum: A Case Report. ( 30328473 )
2018
22
Porokeratosis-Like Grover Disease: More Than an Acantholytic Pattern. ( 30409379 )
2018
23
Exclusive Facial Actinic Porokeratosis. ( 30505798 )
2018
24
Linear porokeratosis associated with multiple squamous cell carcinomas. ( 29232434 )
2017
25
Follicular porokeratosis: a case study and literature review. ( 28677581 )
2017
26
Enhanced dendritic cells and regulatory T cells in the dermis of porokeratosis. ( 28894928 )
2017
27
Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review. ( 28922948 )
2017
28
Disseminated Superficial Actinic Porokeratosis ( 29083728 )
2017
29
A Case of Eruptive Disseminated Porokeratosis in a Cancer Patient after Trastuzumab and Exemestane Treatment: Cancer Related or Drug Induced Phenomenon? ( 29221608 )
2017
30
Porokeratosis Ptychotropica Coexisting with Tinea Corporis. ( 28761308 )
2017
31
Follicular porokeratosis: four new cases. ( 28748571 )
2017
32
Unilateral verrucous porokeratosis of the gluteal cleft. ( 28632808 )
2017
33
Acquired disseminated superficial porokeratosis in a patient affected by chronic lymphocitic leukemia. ( 28906091 )
2017
34
Onychodystrophy due to porokeratosis of Mibelli: a rare association. ( 28632889 )
2017
35
Treatment of disseminated superficial actinic porokeratosis with oral alitretinoin. ( 28543730 )
2017
36
Dermoscopy of Porokeratosis of Mibelli. ( 28761862 )
2017
37
Oral involvement in disseminated superficial porokeratosis. ( 28071607 )
2017
38
Image Gallery: Porokeratosis under the dermoscopic furrow ink test and ultraviolet light. ( 29052887 )
2017
39
A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family. ( 28543715 )
2017
40
Successful Use of Grenz Rays for Disseminated Superficial Actinic Porokeratosis: Report of 8 Cases. ( 28817832 )
2017
41
Inflammatory disseminated superficial porokeratosis successfully controlled with a combination of topical diclofenac gel and systemic etretinate. ( 29194784 )
2017
42
Ink-enhanced dermoscopy is a useful tool to differentiate acquired solitary plaque porokeratosis from other scaly lesions. ( 29221722 )
2017
43
Disseminated superficial actinic porokeratosis treated with ingenol mebutate gel 0.05. ( 28398427 )
2017
44
Genitogluteal Porokeratosis in a Well Woman. ( 28027122 )
2017
45
Hyperkeratotic porokeratosis ptychotropica with satellite lesions: a rare presentation of an unusual variant of porokeratosis. ( 29264903 )
2017
46
Porokeratosis ptychotropica responding to photodynamic therapy: An alternative treatment for a refractory disease. ( 28580653 )
2017
47
Porokeratosis ptychotropica: A giant lesion in a Chinese man. ( 28664560 )
2017
48
Giant Porokeratosis With Malignant Transformation to Squamous Cell Carcinoma. ( 29293104 )
2017
49
Dermoscopic Features and Gene Mutation in the Mevalonate Pathway of Five Sporadic Patients with Porokeratosis. ( 28685731 )
2017
50
Porokeratosis ptychotropica: a diagnostic and therapeutic challenge. ( 28940636 )
2017

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

Cosmic variations for Porokeratosis:

9 (show top 50) (show all 165)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44225 TP53 skin,arm,carcinoma,squamous cell carcinoma c.859G>A p.E287K 17:7673761-7673761 4
2 COSM10656 TP53 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
3 COSM44832 TP53 skin,arm,carcinoma,squamous cell carcinoma c.1096T>G p.S366A 17:7670613-7670613 4
4 COSM43582 TP53 skin,arm,carcinoma,squamous cell carcinoma c.454C>T p.P152S 17:7675158-7675158 4
5 COSM6904027 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.5923G>A p.D1975N 1:119918412-119918412 4
6 COSM1667036 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
7 COSM6904021 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1294A>G p.K432E 1:119967592-119967592 4
8 COSM6904020 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1778G>A p.C593Y 1:119963711-119963711 4
9 COSM6904012 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.6121G>A p.V2041M 9:136498958-136498958 4
10 COSM99651 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 4
11 COSM6904004 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1795C>T p.H599Y 9:136515591-136515591 4
12 COSM6904024 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.841T>C p.C281R 9:136519467-136519467 4
13 COSM6904026 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.464G>T p.C155F 9:136523128-136523128 4
14 COSM120968 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1270G>A p.E424K 9:136517923-136517923 4
15 COSM6904029 KRAS skin,arm,carcinoma,squamous cell carcinoma c.185A>G p.E62G 12:25227339-25227339 4
16 COSM516 KRAS skin,arm,carcinoma,squamous cell carcinoma c.34G>T p.G12C 12:25245351-25245351 4
17 COSM496 HRAS skin,arm,carcinoma,squamous cell carcinoma c.181C>A p.Q61K 11:533875-533875 4
18 COSM498 HRAS skin,arm,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 4
19 COSM6903456 CDKN2A skin,arm,carcinoma,squamous cell carcinoma c.178G>T p.A60S 9:21971181-21971181 4
20 COSM99652 skin,arm,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 4
21 COSM6904022 skin,arm,carcinoma,squamous cell carcinoma c.1096T>G p.S366A 17:7670613-7670613 4
22 COSM120006 skin,arm,carcinoma,squamous cell carcinoma c.463C>T p.R155W 17:7674221-7674221 4
23 COSM6904028 skin,arm,carcinoma,squamous cell carcinoma c.185A>G p.E62G 12:25227339-25227339 4
24 COSM6904025 skin,arm,carcinoma,squamous cell carcinoma c.464G>T p.C155F 9:136523128-136523128 4
25 COSM120005 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
26 COSM6903453 skin,arm,carcinoma,squamous cell carcinoma c.344G>T p.G115V 9:21971181-21971181 4
27 COSM6904003 skin,arm,carcinoma,squamous cell carcinoma c.1795C>T p.H599Y 9:136515591-136515591 4
28 COSM99664 skin,arm,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 4
29 COSM6904023 skin,arm,carcinoma,squamous cell carcinoma c.841T>C p.C281R 9:136519467-136519467 4
30 COSM3472337 skin,arm,carcinoma,squamous cell carcinoma c.220C>T p.R74* 1:120005407-120005407 4
31 COSM120007 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
32 COSM6904011 skin,arm,carcinoma,squamous cell carcinoma c.6121G>A p.V2041M 9:136498958-136498958 4
33 COSM6903455 skin,arm,carcinoma,squamous cell carcinoma c.178G>T p.A60S 9:21971181-21971181 4
34 COSM6903454 skin,arm,carcinoma,squamous cell carcinoma c.178G>T p.A60S 9:21971181-21971181 4
35 COSM3388183 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
36 COSM1640831 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
37 COSM120967 skin,arm,carcinoma,squamous cell carcinoma c.1270G>A p.E424K 9:136517923-136517923 4
38 COSM45074 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 17:7673791-7673791 3
39 COSM45114 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.702C>A p.Y234* 17:7674261-7674261 3
40 COSM10705 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 3
41 COSM45774 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 17:7673721-7673721 3
42 COSM43753 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 3
43 COSM44218 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>C p.H179P 17:7675076-7675076 3
44 COSM10863 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 3
45 COSM10889 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>G p.H179R 17:7675076-7675076 3
46 COSM44523 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.863A>G p.N288S 17:7673757-7673757 3
47 COSM10731 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.707A>G p.Y236C 17:7674256-7674256 3
48 COSM43544 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 3
49 COSM10648 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 3
50 COSM10812 TP53 skin,arm,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 3

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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