MCID: PRK001
MIFTS: 46

Porokeratosis

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

Aliases & Classifications for Porokeratosis

MalaCards integrated aliases for Porokeratosis:

Name: Porokeratosis 12 38 56 45 15 17
Disseminated Superficial Actinic Porokeratosis 12 54 60 38
Porokeratosis, Disseminated Superficial Actinic, 1 74
Porokeratosis, Disseminated Superficial Actinic 74
Porokeratosis of Mibelli 74
Dsap 54

Characteristics:

Orphanet epidemiological data:

60
disseminated superficial actinic porokeratosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3805
ICD9CM 36 692.75
MeSH 45 D017499
NCIt 51 C85019
SNOMED-CT 69 41495000 80432009
ICD10 34 L56.5
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0265970
Orphanet 60 ORPHA79152

Summaries for Porokeratosis

NIH Rare Diseases : 54 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 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 porokeratosis and hyperkeratosis

Wikipedia : 77 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 122)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 34.7 MVK PMVK
2 linear porokeratosis 34.0 FDPS MVD MVK PMVK SLC17A9
3 punctate porokeratosis 33.9 FDPS MVD MVK PMVK SLC17A9
4 clear cell acanthoma 29.3 FLG IVL
5 porokeratosis 3, multiple types 12.8
6 porokeratosis 7, multiple types 12.7
7 porokeratosis 8, disseminated superficial actinic type 12.7
8 porokeratosis 2, palmar, plantar, and disseminated type 12.6
9 porokeratosis 9, multiple types 12.6
10 porokeratosis 4, disseminated superficial actinic type 12.5
11 porokeratosis 5, disseminated superficial actinic type 12.5
12 porokeratosis 6, multiple types 12.5
13 cdags syndrome 12.0
14 palmoplantar keratoderma, punctate type ii 11.7
15 squamous cell carcinoma 10.6
16 psoriasis 10.4
17 hepatitis 10.2
18 keratosis 10.2
19 lymphoma 10.1
20 amyloidosis 10.1
21 bowen's disease 10.1
22 hepatitis c virus 10.1
23 hepatitis c 10.1
24 pemphigus 10.1
25 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
26 myelodysplastic syndrome 10.0
27 craniosynostosis 10.0
28 melanoma 10.0
29 lichen planus 10.0
30 pemphigus vulgaris, familial 9.9
31 mycosis fungoides 9.9
32 cholangiocarcinoma 9.9
33 diabetes mellitus 9.9
34 leukemia 9.9
35 liver disease 9.9
36 pemphigus foliaceus 9.9
37 pemphigus vulgaris 9.9
38 thrombocytopenia 9.9
39 cutaneous t cell lymphoma 9.9
40 dermatitis 9.9
41 skin carcinoma 9.9
42 pustulosis of palm and sole 9.9
43 dermatophytosis 9.9
44 pseudoainhum 9.9
45 dermatitis, atopic, 2 9.9 FLG LOR
46 biliary cirrhosis, primary, 1 9.8
47 colorectal cancer 9.8
48 hepatocellular carcinoma 9.8
49 esophageal cancer 9.8
50 systemic lupus erythematosus 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:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 porokeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200044
2 hyperkeratosis 33 hallmark (90%) HP:0000962
3 pruritus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000989
4 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
5 abnormality of skin pigmentation 33 frequent (33%) HP:0001000
6 dermal atrophy 33 frequent (33%) HP:0004334
7 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
8 squamous cell carcinoma of the skin 33 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:

42
Skin, Testes, Bone, T Cells, Bone Marrow, Colon, B Cells

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 781)
# Title Authors Year
1
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
2
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. ( 30942823 )
2019
3
Eruptive porokeratosis under nivolumab adjuvant treatment for melanoma. ( 30810218 )
2019
4
Porokeratosis-Like Grover Disease: More Than an Acantholytic Pattern. ( 30409379 )
2019
5
Image Gallery: A case of porokeratosis ptychotropica. ( 30604535 )
2019
6
Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis. ( 30942834 )
2019
7
Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease. ( 31018713 )
2019
8
Superficial Shaving Combined with Photodynamic Therapy for Treating Disseminated Superficial Actinic Porokeratosis: A Case Report. ( 31055089 )
2019
9
Porokeratosis Ptychotropica. ( 31090870 )
2019
10
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. ( 30264904 )
2019
11
Porokeratosis Ptychotropica on the Penis and Scrotum: A Case Report. ( 30328473 )
2019
12
Amelanotic melanoma arising within a lesion of disseminated superficial actinic porokeratosis: An unusual presentation leading to a novel therapeutic approach. ( 28976625 )
2018
13
Generalized linear porokeratosis. ( 29924219 )
2018
14
Exclusive Facial Actinic Porokeratosis. ( 30505798 )
2018
15
A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis. ( 30561051 )
2018
16
The Novel Mevalonate Kinase Mutations Cause Disseminated Superficial Actinic Porokeratosis. ( 30597534 )
2018
17
Clinical and Dermoscopic Features of Pigmented Disseminated Superficial Actinic Porokeratosis: Case Report and Literature Review. ( 28922948 )
2018
18
Porokeratosis ptychotropica: a diagnostic and therapeutic challenge. ( 28940636 )
2018
19
Inflammatory disseminated superficial porokeratosis successfully controlled with a combination of topical diclofenac gel and systemic etretinate. ( 29194784 )
2018
20
A Case of Eruptive Disseminated Porokeratosis in a Cancer Patient after Trastuzumab and Exemestane Treatment: Cancer Related or Drug Induced Phenomenon? ( 29221608 )
2018
21
Overexpression of S100A7 protein is an integral part of abnormal epidermal differentiation in cornoid lamella of porokeratosis. ( 29231238 )
2018
22
Acral porokeratosis associated with anonychia. ( 29271370 )
2018
23
Giant Porokeratosis With Malignant Transformation to Squamous Cell Carcinoma. ( 29293104 )
2018
24
Pediatric penile porokeratosis: A case report. ( 29341221 )
2018
25
Disseminated Porokeratosis with Idiopathic Thrombocytopenia - Case Report and Literature Review of Porokeratosis and Related Disorders. ( 29484012 )
2018
26
Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. ( 29606819 )
2018
27
Disseminated Superficial Actinic Porokeratosis in a Vitiligo Patient Undergoing Treatment with Long-Term Narrowband Ultraviolet B. ( 29606833 )
2018
28
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
29
Genitogluteal porokeratosis in an HIV-positive man: a case report and review of the literature on genital porokeratosis. ( 29634882 )
2018
30
Temozolomide-induced inflammation of disseminated superficial actinic porokeratosis. ( 29634886 )
2018
31
Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. ( 29693064 )
2018
32
Disseminated filiform hyperkeratosis - a variant of porokeratosis? ( 29706025 )
2018
33
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. ( 29722423 )
2018
34
Genitogluteal porokeratosis: a clinical review. ( 29750048 )
2018
35
Erratum: Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. ( 29983490 )
2018
36
Pigmented porokeratosis with dermal deposits of amyloid: the different chromatic features. ( 29998707 )
2018
37
Improved effect on 2 cases of disseminated superficial actinic porokeratosis with daylight photodynamic therapy. ( 30076993 )
2018
38
A case of bullous eruptive disseminated porokeratosis. ( 30187499 )
2018
39
Dermoscopy in assisting the diagnosis of linear porokeratosis. ( 28557045 )
2017
40
Linear porokeratosis associated with multiple squamous cell carcinomas. ( 29232434 )
2017
41
Dermoscopy of Disseminated Superficial Actinic Porokeratosis. ( 27015657 )
2017
42
Giant porokeratosis with overlying cutaneous horn and squamous cell carcinoma. ( 27297269 )
2017
43
Disseminated superficial actinic porokeratosis (DSAP): significant improvement after local administration of calcipotriol/betamethasone gel? ( 27468973 )
2017
44
Successful management of disseminated superficial actinic porokeratosis with diclofenac sodium 3% gel. ( 27859984 )
2017
45
Wood's lamp image of porokeratosis. ( 27981645 )
2017
46
Genitogluteal Porokeratosis in a Well Woman. ( 28027122 )
2017
47
Oral involvement in disseminated superficial porokeratosis. ( 28071607 )
2017
48
Genital porokeratosis with amyloid deposition mimicking extramammary Paget disease. ( 28071814 )
2017
49
Transformation of porokeratosis ptychotropica into invasive squamous cell carcinoma. ( 28197991 )
2017
50
Light and laser treatment modalities for disseminated superficial actinic porokeratosis: a systematic review. ( 28239750 )
2017

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 COSM45074 TP53 skin,arm,carcinoma,NS c.829T>G p.C277G 17:7673791-7673791 0
2 COSM44225 TP53 skin,arm,carcinoma,squamous cell carcinoma c.859G>A p.E287K 17:7673761-7673761 0
3 COSM10656 TP53 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
4 COSM45774 TP53 skin,arm,carcinoma,NS c.899C>G p.P300R 17:7673721-7673721 0
5 COSM43753 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 0
6 COSM44218 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>C p.H179P 17:7675076-7675076 0
7 COSM10863 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 0
8 COSM10889 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.536A>G p.H179R 17:7675076-7675076 0
9 COSM44832 TP53 skin,arm,carcinoma,squamous cell carcinoma c.1096T>G p.S366A 17:7670613-7670613 0
10 COSM10995 TP53 skin,lower leg,carcinoma,NS c.580C>T p.L194F 17:7674951-7674951 0
11 COSM44398 TP53 skin,lower leg,carcinoma,NS c.682G>A p.D228N 17:7674281-7674281 0
12 COSM44523 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.863A>G p.N288S 17:7673757-7673757 0
13 COSM10731 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.707A>G p.Y236C 17:7674256-7674256 0
14 COSM43544 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 0
15 COSM10648 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 0
16 COSM10705 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 0
17 COSM10812 TP53 skin,arm,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
18 COSM45765 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.987C>A p.T329T 17:7673541-7673541 0
19 COSM43582 TP53 skin,arm,carcinoma,squamous cell carcinoma c.454C>T p.P152S 17:7675158-7675158 0
20 COSM45114 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.702C>A p.Y234* 17:7674261-7674261 0
21 COSM43995 TP53 skin,lower leg,carcinoma,squamous cell carcinoma c.740A>T p.N247I 17:7674223-7674223 0
22 COSM13146 SMO skin,arm,carcinoma,NS c.1604G>T p.W535L 7:129210500-129210500 0
23 COSM6931106 ROS1 skin,lower leg,carcinoma,NS c.418G>A p.G140R 6:117404300-117404300 0
24 COSM1735721 RB1 skin,lower leg,carcinoma,NS c.297G>A p.W99* 13:48342631-48342631 0
25 COSM1735722 RB1 skin,lower leg,carcinoma,NS c.298G>A p.G100R 13:48342632-48342632 0
26 COSM29057 PTCH1 skin,lower leg,carcinoma,NS c.2713C>T p.Q905* 9:95459774-95459774 0
27 COSM14440 PTCH1 skin,lower leg,carcinoma,NS c.1093C>T p.Q365* 9:95479122-95479122 0
28 COSM17456 PTCH1 skin,arm,carcinoma,NS c.1160G>A p.W387* 9:95479055-95479055 0
29 COSM17480 PTCH1 skin,arm,carcinoma,NS c.1847G>A p.S616N 9:95469813-95469813 0
30 COSM17548 PTCH1 skin,arm,carcinoma,NS c.3499G>T p.G1167W 9:95449891-95449891 0
31 COSM17521 PTCH1 skin,lower leg,carcinoma,NS c.1993C>G p.R665G 9:95469008-95469008 0
32 COSM6904027 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.5923G>A p.D1975N 1:119918412-119918412 0
33 COSM6903876 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 0
34 COSM6903983 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3052A>G p.T1018A 1:119940686-119940686 0
35 COSM6904021 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1294A>G p.K432E 1:119967592-119967592 0
36 COSM6903864 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.4570A>G p.S1524G 1:119923926-119923926 0
37 COSM6903893 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.6449C>T p.P2150L 1:119916273-119916273 0
38 COSM6903901 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.6951A>C p.Q2317H 1:119915771-119915771 0
39 COSM6903850 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3358T>G p.C1120G 1:119937446-119937446 0
40 COSM6904020 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1778G>A p.C593Y 1:119963711-119963711 0
41 COSM6903842 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.2867A>G p.E956G 1:119941640-119941640 0
42 COSM6903839 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.2521C>T p.P841S 1:119949085-119949085 0
43 COSM6903830 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.1652C>T p.P551L 1:119965482-119965482 0
44 COSM6903984 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.3052A>C p.T1018P 1:119940686-119940686 0
45 COSM6903818 NOTCH2 skin,lower leg,carcinoma,squamous cell carcinoma c.823T>C p.C275R 1:119987011-119987011 0
46 COSM1667036 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 0
47 COSM6903737 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5051A>G p.Q1684R 9:136503298-136503298 0
48 COSM6903607 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.2747G>A p.C916Y 9:136509955-136509955 0
49 COSM6903747 NOTCH1 skin,lower leg,carcinoma,squamous cell carcinoma c.5425A>G p.N1809D 9:136502048-136502048 0
50 COSM99651 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 0

Expression for Porokeratosis

Search GEO for disease gene expression data for Porokeratosis.

Pathways for Porokeratosis

Pathways related to Porokeratosis according to KEGG:

38
# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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