DSAP
MCID: PRK001
MIFTS: 45

Porokeratosis (DSAP) malady

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Porokeratosis

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 12 29 52 42 14
Disseminated Superficial Actinic Porokeratosis 12 50 56
Porokeratosis, Disseminated Superficial Actinic, 1 69
Porokeratosis, Disseminated Superficial Actinic 69
Porokeratosis of Mibelli 69
Dsap 50

Characteristics:

Orphanet epidemiological data:

56
disseminated superficial actinic porokeratosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3805
ICD10 33 L56.5
ICD9CM 35 692.75
MeSH 42 D017499
NCIt 47 C85019
Orphanet 56 ORPHA79152
UMLS via Orphanet 70 C0265970
ICD10 via Orphanet 34 Q82.8

Summaries for Porokeratosis

NIH Rare Diseases : 50 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 pruritus, squamous cell carcinoma and hyperkeratosis. 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.

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

Related Diseases for Porokeratosis

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)
id Related Disease Score Top Affiliating Genes
1 porokeratosis 3, disseminated superficial actinic 12.3
2 porokeratosis 7, multiple types 12.2
3 porokeratosis of mibelli 12.2
4 porokeratosis 8, disseminated superficial actinic type 12.2
5 punctate porokeratosis 12.2
6 linear porokeratosis 12.2
7 porokeratosis 2, palmar, plantar, and disseminated type 12.2
8 porokeratosis 9, multiple types 12.1
9 porokeratosis, disseminated superficial actinic 2 11.8
10 porokeratosis 3, multiple types 11.7
11 cdags syndrome 11.3
12 punctate palmoplantar keratoderma type 2 10.7
13 squamous cell carcinoma 10.3
14 psoriasis 10.1
15 gaucher disease, type i 10.1 FLG LOR
16 pneumonia caused by pseudomonas aeruginosa infection 10.0 FLG IVL
17 lipodystrophy due to peptidic growth factors deficiency 10.0 FDPS MVD MVK PMVK SLC17A9
18 pyruvate kinase deficiency, liver type 10.0 FDPS MVD MVK PMVK SLC17A9
19 insulinoma 10.0 FLG IVL
20 dermatitis, atopic 2 10.0 FLG LOR
21 progressive myoclonus epilepsy 10.0 FLG LOR
22 familial acute necrotizing encephalopathy 9.9 FLG IVL
23 hepatitis 9.9
24 lymphoma 9.9
25 posterior valve urethra 9.9 EMILIN2 FDPS MVD MVK PMVK SLC17A9
26 richter's syndrome 9.9 FLG IVL LOR
27 preauricular tag, isolated, autosomal dominant, 1 9.8 FLG IVL
28 keratosis 9.8
29 amyloidosis 9.8
30 breast leiomyoma 9.8 FGFR3 FLG IVL
31 hepatitis c virus 9.8
32 myelodysplastic syndrome 9.8
33 craniosynostosis 9.8
34 hepatitis c 9.8
35 dermatitis 9.8
36 pemphigus 9.8
37 lichen planus 9.8
38 bowen's disease 9.8
39 autonomic nervous system neoplasm 9.8 FGFR3 FLG IVL
40 liver disease 9.7
41 pemphigus foliaceus 9.7
42 cutaneous t cell lymphoma 9.7
43 mucositis 9.7
44 pseudoainhum 9.7
45 atrophic gastritis 9.7 FLG IVL S100A7
46 solitary bone cyst 9.6 FLG IVL LOR S100A7
47 rheumatoid arthritis 9.5
48 colorectal cancer 9.5
49 systemic lupus erythematosus 9.5
50 hepatocellular carcinoma 9.5

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to Porokeratosis

Symptoms & Phenotypes for Porokeratosis

Human phenotypes related to Porokeratosis:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Occasional (29-5%) HP:0000989
2 squamous cell carcinoma 56 32 Occasional (29-5%) HP:0002860
3 porokeratosis 56 32 Very frequent (99-80%) HP:0200044
4 hyperkeratosis 32 HP:0000962
5 cutaneous photosensitivity 32 HP:0000992
6 abnormality of skin pigmentation 32 HP:0001000
7 squamous cell carcinoma of the skin 32 HP:0006739
8 dermal atrophy 32 HP:0004334

Drugs & Therapeutics for Porokeratosis

Interventional clinical trials:


id Name Status NCT ID Phase
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

Genetic tests related to Porokeratosis:

id Genetic test Affiliating Genes
1 Porokeratosis 29

Anatomical Context for Porokeratosis

MalaCards organs/tissues related to Porokeratosis:

39
Skin, Bone, Bone Marrow, T Cells, Liver, Colon, B Cells

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 616)
id Title Authors Year
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

ClinVar genetic disease variations for Porokeratosis:

6
id 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.875A> G (p.Asn292Ser) single nucleotide variant Pathogenic rs755948940 GRCh38 Chromosome 16, 88655221: 88655221

Expression for Porokeratosis

Search GEO for disease gene expression data for Porokeratosis.

Pathways for Porokeratosis

GO Terms for Porokeratosis

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

id 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 13)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 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 skin epidermis development GO:0098773 9.49 FLG LOR
11 sterol biosynthetic process GO:0016126 9.46 FDPS MVD MVK PMVK
12 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.13 MVD MVK PMVK
13 isoprenoid biosynthetic process GO:0008299 8.92 FDPS MVD MVK PMVK

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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