MCID: LNR004
MIFTS: 33

Linear Porokeratosis

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Linear Porokeratosis

MalaCards integrated aliases for Linear Porokeratosis:

Name: Linear Porokeratosis 20
Congenital Facial Linear Porokeratosis 20 70
Porokeratosis, Linear 70

Classifications:



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UMLS 70 C0302319 C2931908

Summaries for Linear Porokeratosis

GARD : 20 Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border. The patches usually develop in infants or young children, but they sometimes develop in adults. Patches may be on one area of the body (localized) or on multiple areas (generalized). They usually develop in a pattern over the skin known as the " lines of Blaschko," and most commonly occur on the arms or trunk. Some people experience itching or pain where the patches occur. Linear porokeratosis is thought be a form of disseminated superficial actinic porokeratosis (DSAP). Researchers think that people with linear porokeratosis may have one inherited mutation in a gene that causes DSAP. It is thought that a second mutation in that gene is acquired (a somatic mutation ), occurring in only some cell lines. This may cause the presence of streaks of patches, rather than more widespread patches. Treatment options depend on each person's symptoms. There are no specific recommendations for treatment because no randomized clinical trials have been done. Options may include topical therapies, oral retinoids, cryotherapy, electrodessication, and surgery. Linear porokeratosis can progress to skin cancer ( squamous cell and basal cell carcinoma ), so sun protection and watching for changes within patches are recommended.

MalaCards based summary : Linear Porokeratosis, also known as congenital facial linear porokeratosis, is related to porokeratosis 1, multiple types and porokeratosis. An important gene associated with Linear Porokeratosis is FDPS (Farnesyl Diphosphate Synthase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Peroxisome. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Linear Porokeratosis

Graphical network of the top 20 diseases related to Linear Porokeratosis:



Diseases related to Linear Porokeratosis

Symptoms & Phenotypes for Linear Porokeratosis

GenomeRNAi Phenotypes related to Linear Porokeratosis according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 MVD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.83 MVD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.83 MVD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.83 MVD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.83 PMVK
6 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.83 MVD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.83 MVD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.83 MVD
9 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.83 PMVK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.83 PMVK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.83 MVD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 PMVK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 MVD PMVK
14 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.83 MVD
15 Reduced mammosphere formation GR00396-S 8.92 FDPS MVD MVK PMVK

Drugs & Therapeutics for Linear Porokeratosis

Search Clinical Trials , NIH Clinical Center for Linear Porokeratosis

Genetic Tests for Linear Porokeratosis

Anatomical Context for Linear Porokeratosis

Publications for Linear Porokeratosis

Articles related to Linear Porokeratosis:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. 61 20
27086492 2016
2
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin. 61
33491095 2021
3
Linear porokeratosis with bone abnormalities treated with compounded topical 2% cholesterol/2% lovastatin ointment. 61
33170511 2021
4
Lack of effect of topical statins in linear porokeratosis. 61
32558973 2021
5
Molecular characterization and natural history of linear porokeratosis: A case series. 61
33279647 2020
6
Generalized type 2 segmental disseminated superficial actinic porokeratosis coexisted with multiple cutaneous squamous cell carcinomas: Analysis of two cases. 61
33154323 2020
7
[Linear porokeratosis]. 61
32974718 2020
8
Recurrent Squamous Cell Carcinoma Arising Within a Linear Porokeratosis 61
32155019 2020
9
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. 61
31449901 2020
10
Linear porokeratosis presenting in adulthood: A diagnostic challenge: A case report. 61
32477558 2020
11
Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. 61
31753123 2019
12
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. 61
31207227 2019
13
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 61
30942823 2019
14
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. 61
30793792 2019
15
Generalized linear porokeratosis. 61
29924219 2018
16
Generalized linear porokeratosis. 61
33288115 2018
17
Linear porokeratosis associated with multiple squamous cell carcinomas. 61
29232434 2017
18
Dermoscopy in assisting the diagnosis of linear porokeratosis. 61
28557045 2017
19
Linear Malignant Melanoma In Situ: Reports and Review of Cutaneous Malignancies Presenting as Linear Skin Cancer. 61
29159004 2017
20
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. 61
27579746 2016
21
Unilateral generalized linear porokeratosis with nail dystrophy. 61
26589366 2016
22
Photoletter to the editor: Response of linear porokeratosis to photodynamic therapy in an 11-year-old girl. 61
26848323 2015
23
Porokeratosis on the scrotum: two cases. 61
25545989 2015
24
Clinical analysis and etiology of porokeratosis. 61
25120591 2014
25
A case of linear porokeratosis treated with photodynamic therapy with confocal microscopy surveillance. 61
24119172 2014
26
Linear porokeratosis: an unusual presentation. 61
24891690 2014
27
Co-existence of porokeratosis variants concurrent with Bowen's disease: two rare cases report. 61
25123017 2014
28
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. 61
24553841 2014
29
Giant inflammatory linear verrucous epidermal nevus: successfully treated with full thickness excision and skin grafting. 61
24249899 2013
30
Unilateral linear porokeratosis. 61
24222297 2013
31
Giant ulcerating squamous cell carcinoma arising from linear porokeratosis: a case study. 61
23134898 2012
32
Systematized linear porokeratosis: concept of type 2 segmental manifestation implies an increased cancer risk. 61
22779423 2012
33
Altered gene expression in squamous cell carcinoma arising from congenital unilateral linear porokeratosis. 61
22998543 2012
34
Resident rounds: Part III generalized linear porokeratosis. 61
22648230 2012
35
Case for diagnosis. 61
22714773 2012
36
Coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis. 61
22571580 2012
37
Porokeratosis in Singapore: an Asian perspective. 61
22571584 2012
38
Multiple keratotic papules on palm. 61
22301047 2012
39
[Linear porokeratosis]. 61
22078049 2011
40
Linear porokeratosis with nail dystrophy. 61
21697042 2011
41
Unilateral systematized linear porokeratosis: a report of a rare case. 61
21965869 2011
42
Linear porokeratosis with follicular involvement. 61
21965874 2011
43
Generalized linear porokeratosis: a rare entity with excellent response to acitretin. 61
21635825 2011
44
Congenital linear porokeratosis with pseudoainhum. 61
20956098 2010
45
Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis. 61
20451293 2010
46
A case of linear porokeratosis superimposed on disseminated superficial actinic porokeratosis. 61
21399730 2010
47
Mibelli revisited: a case of type 2 segmental porokeratosis from 1893. 61
19632740 2010
48
[Congenital unilateral linear porokeratosis]. 61
19921107 2009
49
[Generalized linear porokeratosis limited to one side of the body]. 61
20038374 2009
50
Porokeratosis: Two Faces, One Family. 61
20652115 2009

Variations for Linear Porokeratosis

Cosmic variations for Linear Porokeratosis:

9 (show top 50) (show all 3507)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122741017 TP53 skin,trunk,carcinoma,basal cell carcinoma c.440G>A p.G147E 17:7673784-7673784 4
2 COSM144087146 TP53 skin,arm,carcinoma,basal cell carcinoma c.245C>T p.S82F 17:7674241-7674241 4
3 COSM88272290 TP53 skin,trunk,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 4
4 COSM143944858 TP53 skin,trunk,carcinoma,basal cell carcinoma c.109C>T p.R37* 17:7674945-7674945 4
5 COSM143156879 TP53 skin,trunk,carcinoma,basal cell carcinoma c.245C>T p.S82F 17:7674241-7674241 4
6 COSM144316210 TP53 skin,trunk,carcinoma,basal cell carcinoma c.716C>T p.P239L 17:7673787-7673787 4
7 COSM106455733 TP53 skin,trunk,carcinoma,basal cell carcinoma c.853G>C p.E285Q 17:7673767-7673767 4
8 COSM143157606 TP53 skin,trunk,carcinoma,basal cell carcinoma c.109C>T p.R37* 17:7674945-7674945 4
9 COSM144310437 TP53 skin,trunk,carcinoma,basal cell carcinoma c.727C>T p.R243W 17:7673776-7673776 4
10 COSM112571322 TP53 skin,trunk,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 4
11 COSM112253674 TP53 skin,trunk,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 4
12 COSM142845131 TP53 skin,trunk,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
13 COSM106489100 TP53 skin,arm,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 4
14 COSM121985820 TP53 skin,trunk,carcinoma,basal cell carcinoma c.226G>T p.D76Y 17:7674909-7674909 4
15 COSM143753198 TP53 skin,trunk,carcinoma,basal cell carcinoma c.736G>C p.E246Q 17:7673767-7673767 4
16 COSM111766512 TP53 skin,trunk,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 4
17 COSM143371151 TP53 skin,trunk,carcinoma,basal cell carcinoma c.727C>T p.R243W 17:7673776-7673776 4
18 COSM111758565 TP53 skin,arm,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 4
19 COSM142838067 TP53 skin,trunk,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
20 COSM93191448 TP53 skin,trunk,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 4
21 COSM123142151 TP53 skin,trunk,carcinoma,basal cell carcinoma c.457G>C p.E153Q 17:7673767-7673767 4
22 COSM144311120 TP53 skin,trunk,carcinoma,basal cell carcinoma c.469C>T p.R157* 17:7674945-7674945 4
23 COSM122734234 TP53 skin,arm,carcinoma,basal cell carcinoma c.326C>T p.S109F 17:7674241-7674241 4
24 COSM144103755 TP53 skin,trunk,carcinoma,basal cell carcinoma c.589G>T p.D197Y 17:7674909-7674909 4
25 COSM112304734 TP53 skin,trunk,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 4
26 COSM143370929 TP53 skin,trunk,carcinoma,basal cell carcinoma c.605C>T p.S202F 17:7674241-7674241 4
27 COSM144306811 TP53 skin,arm,carcinoma,basal cell carcinoma c.422C>G p.P141R 17:7673721-7673721 4
28 COSM144433421 TP53 skin,arm,carcinoma,basal cell carcinoma c.422C>G p.P141R 17:7673721-7673721 4
29 COSM144310254 TP53 skin,trunk,carcinoma,basal cell carcinoma c.605C>T p.S202F 17:7674241-7674241 4
30 COSM143210532 TP53 skin,trunk,carcinoma,basal cell carcinoma c.853G>C p.E285Q 17:7673767-7673767 4
31 COSM105620345 TP53 skin,arm,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 4
32 COSM144087102 TP53 skin,arm,carcinoma,basal cell carcinoma c.352T>G p.C118G 17:7673791-7673791 4
33 COSM144760652 TP53 skin,trunk,carcinoma,basal cell carcinoma c.505G>T p.D169Y 17:7674909-7674909 4
34 COSM142665113 TP53 skin,trunk,carcinoma,basal cell carcinoma c.505G>T p.D169Y 17:7674909-7674909 4
35 COSM144651195 TP53 skin,trunk,carcinoma,basal cell carcinoma c.605C>T p.S202F 17:7674241-7674241 4
36 COSM122741114 TP53 skin,trunk,carcinoma,basal cell carcinoma c.437C>T p.P146L 17:7673787-7673787 4
37 COSM93286376 TP53 skin,trunk,carcinoma,basal cell carcinoma c.622G>T p.D208Y 17:7674909-7674909 4
38 COSM145323381 TP53 skin,trunk,carcinoma,basal cell carcinoma c.363G>C p.M121I 17:7675132-7675132 4
39 COSM112253888 TP53 skin,trunk,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 4
40 COSM122278725 TP53 skin,trunk,carcinoma,basal cell carcinoma c.440G>A p.G147E 17:7673784-7673784 4
41 COSM106063640 TP53 skin,trunk,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
42 COSM87898714 TP53 skin,trunk,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 4
43 COSM112263720 TP53 skin,trunk,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
44 COSM111865367 TP53 skin,trunk,carcinoma,basal cell carcinoma c.622G>T p.D208Y 17:7674909-7674909 4
45 COSM144659527 TP53 skin,trunk,carcinoma,basal cell carcinoma c.719G>A p.G240E 17:7673784-7673784 4
46 COSM142567400 TP53 skin,trunk,carcinoma,basal cell carcinoma c.716C>T p.P239L 17:7673787-7673787 4
47 COSM144599972 TP53 skin,trunk,carcinoma,basal cell carcinoma c.363G>C p.M121I 17:7675132-7675132 4
48 COSM105621487 TP53 skin,trunk,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
49 COSM121875973 TP53 skin,arm,carcinoma,basal cell carcinoma c.433T>G p.C145G 17:7673791-7673791 4
50 COSM144173730 TP53 skin,trunk,carcinoma,basal cell carcinoma c.145G>T p.D49Y 17:7674909-7674909 4

Expression for Linear Porokeratosis

Search GEO for disease gene expression data for Linear Porokeratosis.

Pathways for Linear Porokeratosis

GO Terms for Linear Porokeratosis

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

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.8 PMVK MVK MVD

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 PMVK MVK MVD FDPS
2 steroid metabolic process GO:0008202 9.73 PMVK MVK MVD FDPS
3 cholesterol metabolic process GO:0008203 9.71 PMVK MVK MVD FDPS
4 steroid biosynthetic process GO:0006694 9.67 PMVK MVK MVD FDPS
5 cholesterol biosynthetic process GO:0006695 9.62 PMVK MVK MVD FDPS
6 regulation of cholesterol biosynthetic process GO:0045540 9.56 PMVK MVK MVD FDPS
7 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.33 PMVK MVK MVD
8 sterol biosynthetic process GO:0016126 9.26 PMVK MVK MVD FDPS
9 isoprenoid biosynthetic process GO:0008299 8.92 PMVK MVK MVD FDPS

Sources for Linear Porokeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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