DSAP
MCID: PRK001
MIFTS: 45

Porokeratosis (DSAP) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

About this section
Sources:
11Disease Ontology, 13DISEASES, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 11 27 50 39 13
Disseminated Superficial Actinic Porokeratosis 11 48 54
Porokeratosis, Disseminated Superficial Actinic, 1 68
 
Porokeratosis, Disseminated Superficial Actinic 68
Porokeratosis of Mibelli 68
Dsap 48

Characteristics:

Orphanet epidemiological data:

54
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:3805
ICD1030 L56.5
ICD9CM32 692.75
MeSH39 D017499
NCIt45 C85019
Orphanet54 ORPHA79152
UMLS via Orphanet69 C0265970
ICD10 via Orphanet31 Q82.8

Summaries for Porokeratosis

About this section
NIH Rare Diseases:48 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 3, disseminated superficial actinic and porokeratosis 7, multiple types, and has symptoms including Array, Array and Array. An important gene associated with Porokeratosis is MVD (Mevalonate Diphosphate Decarboxylase), and among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Affiliated tissues include skin, bone and bone marrow.

Wikipedia:71 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Related Diseases for Porokeratosis

About this section

Diseases in the Porokeratosis family:

Porokeratosis 3, Multiple Types Porokeratosis 9, Multiple Types
Porokeratosis 7, Multiple Types

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1porokeratosis 3, disseminated superficial actinic12.3
2porokeratosis 7, multiple types12.2
3porokeratosis of mibelli12.2
4porokeratosis 8, disseminated superficial actinic type12.2
5punctate porokeratosis12.2
6linear porokeratosis12.2
7porokeratosis 2, palmar, plantar, and disseminated type12.2
8porokeratosis 9, multiple types12.1
9porokeratosis, disseminated superficial actinic 211.8
10porokeratosis 3, multiple types11.7
11cdags syndrome11.3
12punctate palmoplantar keratoderma type 210.7
13squamous cell carcinoma10.3
14psoriasis10.1
15gaucher disease, type i10.1FLG, LOR
16pneumonia caused by pseudomonas aeruginosa infection10.0FLG, IVL
17lipodystrophy due to peptidic growth factors deficiency10.0FDPS, MVD, MVK, PMVK, SLC17A9
18pyruvate kinase deficiency, liver type10.0FDPS, MVD, MVK, PMVK, SLC17A9
19insulinoma10.0FLG, IVL
20dermatitis, atopic 210.0FLG, LOR
21progressive myoclonus epilepsy10.0FLG, LOR
22familial acute necrotizing encephalopathy9.9FLG, IVL
23hepatitis9.9
24lymphoma9.9
25posterior valve urethra9.9EMILIN2, FDPS, MVD, MVK, PMVK, SLC17A9
26richter's syndrome9.9FLG, IVL, LOR
27preauricular tag, isolated, autosomal dominant, 19.8FLG, IVL
28keratosis9.8
29amyloidosis9.8
30breast leiomyoma9.8FGFR3, FLG, IVL
31hepatitis c virus9.8
32myelodysplastic syndrome9.8
33craniosynostosis9.8
34hepatitis c9.8
35dermatitis9.8
36pemphigus9.8
37lichen planus9.8
38bowen's disease9.8
39autonomic nervous system neoplasm9.8FGFR3, FLG, IVL
40liver disease9.7
41pemphigus foliaceus9.7
42cutaneous t cell lymphoma9.7
43mucositis9.7
44pseudoainhum9.7
45atrophic gastritis9.7FLG, IVL, S100A7
46solitary bone cyst9.6FLG, IVL, LOR, S100A7
47rheumatoid arthritis9.5
48colorectal cancer9.5
49systemic lupus erythematosus9.5
50hepatocellular carcinoma9.5

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms & Phenotypes for Porokeratosis

About this section

Human phenotypes related to Porokeratosis:

 54 64 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus64 54 Occasional (29-5%) HP:0000989
2 squamous cell carcinoma64 54 Occasional (29-5%) HP:0002860
3 porokeratosis64 54 Very frequent (99-80%) HP:0200044
4 hyperkeratosis64 HP:0000962
5 cutaneous photosensitivity64 HP:0000992
6 abnormality of skin pigmentation64 HP:0001000
7 dermal atrophy64 HP:0004334
8 squamous cell carcinoma of the skin64 HP:0006739

Drugs & Therapeutics for Porokeratosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunwald-giemsa Stained Tissue SmearCompletedNCT00218868

Search NIH Clinical Center for Porokeratosis


Cochrane evidence based reviews: porokeratosis

Genetic Tests for Porokeratosis

About this section

Genetic tests related to Porokeratosis:

id Genetic test Affiliating Genes
1 Porokeratosis27

Anatomical Context for Porokeratosis

About this section

MalaCards organs/tissues related to Porokeratosis:

36
Skin, Bone, Bone marrow, T cells, Colon, Liver, B cells

Publications for Porokeratosis

About this section

Articles related to Porokeratosis:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
Genital porokeratosis with amyloid deposition mimicking extramammary Paget disease. (28071814)
2017
2
Oral involvement in disseminated superficial porokeratosis. (28071607)
2017
3
Genitogluteal Porokeratosis in a Well Woman. (28027122)
2017
4
Multiple aktinische Keratosen durch berufliche UV-Exposition auf dem Boden einer Porokeratosis superficialis disseminata actinica (Chernosky-Freeman). (27992150)
2016
5
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis. (26794421)
2016
6
Giant porokeratosis with overlying cutaneous horn and squamous cell carcinoma. (27297269)
2016
7
A Case of Psoriasis Encircled by Porokeratosis. (27904191)
2016
8
Porokeratosis of Mibelli: case report of an uncommon penile lesion. (27338161)
2016
9
Dermoscopy of Disseminated Superficial Actinic Porokeratosis. (27015657)
2016
10
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis. (27422687)
2016
11
Disseminated superficial actinic porokeratosis improved with fractional 1927-nm laser treatments. (26820042)
2016
12
Facial solar porokeratosis. (26858047)
2016
13
Two cases of disseminated superficial actinic porokeratosis treated with daylight-mediated photodynamic therapy. (27502333)
2016
14
Successful management of disseminated superficial actinic porokeratosis with diclofenac sodium 3% gel. (27859984)
2016
15
Clinical and dermatoscopic features of porokeratosis palmaris et plantaris. (27559506)
2016
16
Disseminated superficial actinic porokeratosis (DSAP): significant improvement after local administration of calcipotriol/betamethasone gel? (27468973)
2016
17
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. (27579746)
2016
18
Mycosis fungoides patient accompanied actinic keratosis, actinic keratosis with squamous cell carcinoma transformation, and porokeratosis after NBUVB therapy - 1st case report and review of the literature. (27741114)
2016
19
Keratoacanthoma Arising Over Margin of Porokeratosis of Mibelli: A New Association? (26955114)
2016
20
Disseminated Superficial Actinic Porokeratosis. (27013090)
2016
21
Eruptive Disseminated Porokeratosis in a Patient With Type 2 Diabetes Mellitus. (27043338)
2016
22
Interface dermatitis without cornoid lamellae is a pitfall in the diagnosis of porokeratosis: A report of three cases. (26728816)
2016
23
Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. (27052676)
2016
24
Unilateral generalized linear porokeratosis with nail dystrophy. (26589366)
2016
25
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. (27086492)
2016
26
Wood's lamp image of porokeratosis. (27981645)
2016
27
Pigmented Porokeratosis. A Further Variant? (26894774)
2016
28
Multiple actinic keratoses induced by occupational UV exposure in a patient with preexisting disseminated superficial actinic porokeratosis (Chernosky-Freeman). (27935255)
2016
29
Correction: Genomic variations of the mevalonate pathway in porokeratosis. (26816331)
2016
30
Facial solar porokeratosis. (27088949)
2016
31
Diagnosing porokeratosis of Mibelli every time: a novel biopsy technique to maximize histopathologic confirmation. (27023081)
2016
32
Eruptive angiokeratomas and porokeratosis in the setting of sclerodermatous graft-vs.-host disease. (26957361)
2016
33
Cutaneous sarcoidosis simulating porokeratosis of Mibelli. (26113926)
2015
34
Porokeratosis - Head to toe: An unusual presentation. (25821731)
2015
35
Follicular porokeratosis of the nose: two further cases of an emerging variant of porokeratosis. (26126043)
2015
36
Porokeratosis ptychotropica: a rare variant with discrete lesions. (25688706)
2015
37
Disseminated superficial actinic porokeratosis accentuated by spray tan. (26340978)
2015
38
Punctate Porokeratosis Palmaris et Plantaris. (26120157)
2015
39
Penoscrotal porokeratosis: A distinct entity. (26500866)
2015
40
Interface dermatitis without cornoid lamellae is a pitfall in the diagnosis of porokeratosis: A report of three cases. (26261153)
2015
41
Porokeratosis on the scrotum: two cases. (25545989)
2015
42
Inflammatory Disseminated Pruritic Porokeratosis With a Good Response to Ciclosporin. (26546028)
2015
43
Eruptive disseminated porokeratosis associated with corticosteroid-induced immunosuppression. (25800103)
2015
44
Punctate Follicular Porokeratosis: Clinical and Pathologic Features. (26485244)
2015
45
Disseminated superficial porokeratosis involving the groin and genitalia in a 72-year-old immunocompetent man. (27051752)
2015
46
Rectal cancer concurrent with disseminated superficial porokeratosis in three brothers. (25916509)
2015
47
Disseminated superficial actinic porokeratosis in a psoriasis patient with a long-term sun-bathing habit. (25720967)
2015
48
Porokeratosis and malignant melanoma: A causal or incidental association? (26753152)
2015
49
Photoletter to the editor: Response of linear porokeratosis to photodynamic therapy in an 11-year-old girl. (26848323)
2015
50
Disseminated superficial porokeratosis with dermal amyloid deposits in an elderly man: a rare entity. (25761512)
2015

Variations for Porokeratosis

About this section

Clinvar genetic disease variations for Porokeratosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MVDNM_ 002461.2(MVD): c.746T> C (p.Phe249Ser)SNVPathogenicrs761991070GRCh37Chr 16, 88721758: 88721758
2MVDNM_ 002461.2(MVD): c.875A> G (p.Asn292Ser)SNVPathogenicrs755948940GRCh38Chr 16, 88655221: 88655221

Expression for genes affiliated with Porokeratosis

About this section
Search GEO for disease gene expression data for Porokeratosis.

Pathways for genes affiliated with Porokeratosis

About this section

GO Terms for genes affiliated with Porokeratosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:000153310.0FLG, IVL, LOR
2peroxisomeGO:00057779.8MVD, MVK, PMVK

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:001928710.5MVD, MVK, PMVK
2skin epidermis developmentGO:009877310.5FLG, LOR
3cholesterol biosynthetic processGO:000669510.2FDPS, MVD, MVK, PMVK
4cholesterol metabolic processGO:000820310.2FDPS, MVD, MVK, PMVK
5isoprenoid biosynthetic processGO:000829910.2FDPS, MVD, MVK, PMVK
6cornificationGO:007026810.2FLG, IVL, LOR
7lipid metabolic processGO:000662910.2FDPS, MVD, MVK, PMVK
8regulation of cholesterol biosynthetic processGO:004554010.1FDPS, MVD, MVK, PMVK
9steroid biosynthetic processGO:000669410.1FDPS, MVD, MVK, PMVK
10peptide cross-linkingGO:001814910.1FLG, IVL, LOR
11steroid metabolic processGO:00082029.9FDPS, MVD, MVK, PMVK
12keratinocyte differentiationGO:00302169.7FLG, IVL, LOR, S100A7
13sterol biosynthetic processGO:00161269.5FDPS, MVD, MVK, PMVK

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of epidermisGO:003028010.2FLG, LOR
2transition metal ion bindingGO:00469149.6FLG, S100A7

Sources for Porokeratosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet