DSAP
MCID: PRK001
MIFTS: 51

Porokeratosis (DSAP)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

MalaCards integrated aliases for Porokeratosis:

Name: Porokeratosis 12 59 37 55 44 15 17
Disseminated Superficial Actinic Porokeratosis 12 53 59 37
Porokeratosis, Disseminated Superficial Actinic, 1 72
Porokeratosis, Disseminated Superficial Actinic 72
Porokeratosis of Mibelli 72
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
ICD9CM 35 692.75
MeSH 44 D017499
NCIt 50 C85019
SNOMED-CT 68 41495000 80432009
ICD10 33 L56.5
MESH via Orphanet 45 D017499
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0162839 C0265970
UMLS 72 C0162839 C0265970 C0949506 more

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'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 SLC17A9 (Solute Carrier Family 17 Member 9), 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 hyperkeratosis and porokeratosis

KEGG : 37
Porokeratosis is a disorder of keratinization characterized by atrophic patches surrounded by a ridge of keratin called cornoid lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis. It is induced by exposure to ultraviolet light and usually appears during the third or fourth decade.

Wikipedia : 75 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 195)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 35.3 PMVK MVK
2 linear porokeratosis 34.2 SLC17A9 PMVK MVK MVD FDPS
3 punctate porokeratosis 34.1 SLC17A9 PMVK MVK MVD FDPS
4 clear cell acanthoma 29.4 IVL FLG
5 discoid lupus erythematosus 29.2 IVL FLG
6 skin disease 28.6 S100A7 LOR IVL FLG
7 porokeratosis 3, multiple types 12.9
8 porokeratosis 7, multiple types 12.8
9 porokeratosis 8, disseminated superficial actinic type 12.8
10 porokeratosis 9, multiple types 12.8
11 porokeratosis 2, palmar, plantar, and disseminated type 12.8
12 porokeratosis 4, disseminated superficial actinic type 12.7
13 porokeratosis 5, disseminated superficial actinic type 12.7
14 porokeratosis 6, multiple types 12.7
15 cdags syndrome 12.2
16 genetic porokeratosis 12.1
17 palmoplantar keratoderma, punctate type ii 11.8
18 punctate palmoplantar keratoderma 11.2
19 keratosis 10.6
20 squamous cell carcinoma 10.6
21 pustulosis of palm and sole 10.5
22 psoriasis 10.5
23 erythrokeratoderma ''en cocardes'' 10.5
24 skin carcinoma 10.4
25 bowen's disease 10.4
26 actinic keratosis 10.3
27 amyloidosis 10.3
28 pulmonary alveolar microlithiasis 10.3
29 lichen planus 10.3
30 autoimmune disease 10.2
31 exanthem 10.2
32 hepatitis c virus 10.2
33 basal cell carcinoma 10.2
34 pemphigus 10.2
35 pityriasis rubra pilaris 10.2
36 dowling-degos disease 1 10.2
37 lymphoma 10.2
38 cutaneous t cell lymphoma 10.2
39 dermatophytosis 10.2
40 keratosis, seborrheic 10.1
41 mycosis fungoides 10.1
42 myelodysplastic syndrome 10.1
43 cholangiocarcinoma 10.1
44 allergic hypersensitivity disease 10.1
45 hepatitis c 10.1
46 craniosynostosis 10.1
47 dermatitis 10.1
48 intrahepatic cholangiocarcinoma 10.1
49 liver cirrhosis 10.1
50 kidney disease 10.1

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

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-grunvald-giemsa Stained Cutaneous Tissue Smear in Relation to Photodynamic Therapy Completed NCT00218868
2 The International Survey of Acute Coronary Syndromes- ARCHIVES Recruiting NCT04008173

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, Colon, Kidney

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 1032)
# Title Authors PMID Year
1
Genomic variations of the mevalonate pathway in porokeratosis. 38 71
26202976 2015
2
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. 38 71
25180256 2014
3
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. 38 71
21161278 2011
4
Expression patterns of loricrin in dermatological disorders. 9 38
8434728 1993
5
Carcinogenesis in porokeratosis. Evidence for a role relating to chronic growth activation of keratinocytes. 9 38
1719839 1991
6
Use of Topical and Systemic Retinoids in Solid Organ Transplant Recipients: Update and Review of the Current Literature. 38
31403546 2019
7
Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. 38
30597534 2019
8
Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level. 38
31340066 2019
9
Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and immunohistochemical analysis of anti-Slingshot homolog 1 antibody in one typical patient. 38
31310399 2019
10
Porokeratosis Ptychotropica. 38
31090870 2019
11
[Eruptive disseminated superficial porokeratosis associated with acute hepatitis E]. 38
31326131 2019
12
Eruptive porokeratosis under nivolumab adjuvant treatment for melanoma. 38
30810218 2019
13
Zebras in Foreskin Dermatopathology: A Review. 38
31149956 2019
14
Ink-enhanced dermoscopy is a useful tool to differentiate acquired solitary plaque porokeratosis from other scaly lesions. 38
29221722 2019
15
Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes. 38
31207227 2019
16
A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis. 38
30561051 2019
17
Superficial Shaving Combined with Photodynamic Therapy for Treating Disseminated Superficial Actinic Porokeratosis: A Case Report. 38
31055089 2019
18
Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis. 38
30942834 2019
19
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 38
30942823 2019
20
Porokeratosis-Like Grover Disease: More Than an Acantholytic Pattern. 38
30409379 2019
21
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. 38
30793792 2019
22
Skin Cancer Associated Genodermatoses: A Literature Review. 38
30653245 2019
23
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. 38
30264904 2019
24
Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease. 38
31018713 2019
25
Multiple flat-topped scaly violaceous papules. 38
30982308 2019
26
Porokeratosis Ptychotropica on the Penis and Scrotum: A Case Report. 38
30328473 2019
27
Image Gallery: A case of porokeratosis ptychotropica. 38
30604535 2019
28
A case of bullous eruptive disseminated porokeratosis. 38
30187499 2018
29
Disseminated filiform hyperkeratosis - a variant of porokeratosis? 38
29706025 2018
30
Exclusive Facial Actinic Porokeratosis. 38
30505798 2018
31
Improved effect on 2 cases of disseminated superficial actinic porokeratosis with daylight photodynamic therapy. 38
30076993 2018
32
Erratum: Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. 38
29983490 2018
33
A Case of Eruptive Disseminated Porokeratosis in a Cancer Patient after Trastuzumab and Exemestane Treatment: Cancer Related or Drug Induced Phenomenon? 38
29221608 2018
34
Pigmented porokeratosis with dermal deposits of amyloid: the different chromatic features. 38
29998707 2018
35
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. 38
29722423 2018
36
Generalized linear porokeratosis. 38
29924219 2018
37
Inflammatory disseminated superficial porokeratosis successfully controlled with a combination of topical diclofenac gel and systemic etretinate. 38
29194784 2018
38
Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. 38
29693064 2018
39
Giant Porokeratosis With Malignant Transformation to Squamous Cell Carcinoma. 38
29293104 2018
40
Disseminated Superficial Actinic Porokeratosis in a Vitiligo Patient Undergoing Treatment with Long-Term Narrowband Ultraviolet B. 38
29606833 2018
41
Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. 38
29606819 2018
42
Genitogluteal porokeratosis in an HIV-positive man: a case report and review of the literature on genital porokeratosis. 38
29634882 2018
43
Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review. 38
28922948 2018
44
Maximizing the clinical utility of descriptive lymphoid pathology reporting. 38
29719023 2018
45
Porokeratosis ptychotropica: a diagnostic and therapeutic challenge. 38
28940636 2018
46
Pediatric penile porokeratosis: A case report. 38
29341221 2018
47
Temozolomide-induced inflammation of disseminated superficial actinic porokeratosis. 38
29634886 2018
48
Overexpression of S100A7 protein is an integral part of abnormal epidermal differentiation in cornoid lamella of porokeratosis. 38
29231238 2018
49
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. 38
29630163 2018
50
Acral porokeratosis associated with anonychia. 38
29271370 2018

Variations for Porokeratosis

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 COSM43753 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 4
4 COSM44218 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>C p.H179P 17:7675076-7675076 4
5 COSM10863 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 4
6 COSM10889 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>G p.H179R 17:7675076-7675076 4
7 COSM44832 TP53 skin,arm,carcinoma,squamous cell carcinoma c.1096T>G p.S366A 17:7670613-7670613 4
8 COSM44523 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.863A>G p.N288S 17:7673757-7673757 4
9 COSM10731 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.707A>G p.Y236C 17:7674256-7674256 4
10 COSM43544 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
11 COSM10648 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 4
12 COSM10705 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
13 COSM45765 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.987C>A p.T329T 17:7673541-7673541 4
14 COSM43582 TP53 skin,arm,carcinoma,squamous cell carcinoma c.454C>T p.P152S 17:7675158-7675158 4
15 COSM45114 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.702C>A p.Y234* 17:7674261-7674261 4
16 COSM43995 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.740A>T p.N247I 17:7674223-7674223 4
17 COSM6904027 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.5923G>A p.D1975N 1:119918412-119918412 4
18 COSM6903876 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 4
19 COSM6903983 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3052A>G p.T1018A 1:119940686-119940686 4
20 COSM6904021 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1294A>G p.K432E 1:119967592-119967592 4
21 COSM6903864 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.4570A>G p.S1524G 1:119923926-119923926 4
22 COSM6903893 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.6449C>T p.P2150L 1:119916273-119916273 4
23 COSM6903901 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.6951A>C p.Q2317H 1:119915771-119915771 4
24 COSM6903850 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3358T>G p.C1120G 1:119937446-119937446 4
25 COSM6904020 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1778G>A p.C593Y 1:119963711-119963711 4
26 COSM6903842 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.2867A>G p.E956G 1:119941640-119941640 4
27 COSM6903839 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.2521C>T p.P841S 1:119949085-119949085 4
28 COSM6903830 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.1652C>T p.P551L 1:119965482-119965482 4
29 COSM6903984 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3052A>C p.T1018P 1:119940686-119940686 4
30 COSM6903818 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.823T>C p.C275R 1:119987011-119987011 4
31 COSM1667036 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
32 COSM6903737 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5051A>G p.Q1684R 9:136503298-136503298 4
33 COSM6903607 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.2747G>A p.C916Y 9:136509955-136509955 4
34 COSM6903747 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5425A>G p.N1809D 9:136502048-136502048 4
35 COSM99651 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 4
36 COSM6903752 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5479G>T p.E1827* 9:136501907-136501907 4
37 COSM6904004 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1795C>T p.H599Y 9:136515591-136515591 4
38 COSM6904010 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5390T>C p.L1797P 9:136502083-136502083 4
39 COSM6903739 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5065T>C p.S1689P 9:136503284-136503284 4
40 COSM6903543 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.1016G>T p.C339F 9:136518674-136518674 4
41 COSM6904024 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.841T>C p.C281R 9:136519467-136519467 4
42 COSM6903527 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.498C>G p.C166W 9:136523094-136523094 4
43 COSM5609593 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5414T>C p.L1805P 9:136502059-136502059 4
44 COSM3215909 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5879T>C p.M1960T 9:136500607-136500607 4
45 COSM6903723 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.4565A>C p.Q1522P 9:136505331-136505331 4
46 COSM6904012 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.6121G>A p.V2041M 9:136498958-136498958 4
47 COSM6903593 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.2312T>C p.M771T 9:136513433-136513433 4
48 COSM4171872 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.7574C>T p.P2525L 9:136496165-136496165 4
49 COSM6903537 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.975C>G p.N325K 9:136518715-136518715 4
50 COSM6903585 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.1871C>A p.A624D 9:136515515-136515515 4

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 PMVK MVK MVD
2 cornified envelope GO:0001533 8.8 LOR IVL FLG

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

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 S100A7 FLG
2 structural constituent of epidermis GO:0030280 8.62 LOR FLG

Sources for Porokeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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