MCID: LNR004
MIFTS: 28

Linear Porokeratosis

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Linear Porokeratosis

MalaCards integrated aliases for Linear Porokeratosis:

Name: Linear Porokeratosis 53
Congenital Facial Linear Porokeratosis 53 73
Porokeratosis, Linear 73

Classifications:



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Summaries for Linear Porokeratosis

NIH Rare Diseases : 53 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 inheritedmutation 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. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Linear Porokeratosis

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

# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 32.2 MVK PMVK
2 porokeratosis 30.1 FDPS MVD MVK PMVK SLC17A9
3 porokeratosis 3, multiple types 11.4
4 porokeratosis 7, multiple types 11.4
5 porokeratosis 8, disseminated superficial actinic type 11.2
6 porokeratosis 9, multiple types 11.2
7 squamous cell carcinoma 10.3
8 pseudoainhum 9.9
9 nutritional deficiency disease 9.7 MVK PMVK
10 punctate porokeratosis 9.2 FDPS MVD MVK PMVK SLC17A9

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 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.83 MVD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 MVD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.83 MVD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.83 MVD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.83 MVD
6 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.83 MVD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 PMVK
8 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 PMVK
9 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.83 MVD PMVK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.83 MVD
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 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 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

MalaCards organs/tissues related to Linear Porokeratosis:

41
Skin

Publications for Linear Porokeratosis

Articles related to Linear Porokeratosis:

(show top 50) (show all 69)
# Title Authors Year
1
Generalized linear porokeratosis. ( 29924219 )
2018
2
Linear porokeratosis associated with multiple squamous cell carcinomas. ( 29232434 )
2017
3
Dermoscopy in assisting the diagnosis of linear porokeratosis. ( 28557045 )
2017
4
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. ( 27086492 )
2016
5
Unilateral generalized linear porokeratosis with nail dystrophy. ( 26589366 )
2016
6
Photoletter to the editor: Response of linear porokeratosis to photodynamic therapy in an 11-year-old girl. ( 26848323 )
2015
7
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. ( 24553841 )
2014
8
Linear porokeratosis: an unusual presentation. ( 24891690 )
2014
9
A case of linear porokeratosis treated with photodynamic therapy with confocal microscopy surveillance. ( 24119172 )
2013
10
Unilateral linear porokeratosis. ( 24222297 )
2013
11
Systematized linear porokeratosis: concept of type 2 segmental manifestation implies an increased cancer risk. ( 22779423 )
2012
12
Resident rounds: Part III generalized linear porokeratosis. ( 22648230 )
2012
13
Altered gene expression in squamous cell carcinoma arising from congenital unilateral linear porokeratosis. ( 22998543 )
2012
14
Coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis. ( 22571580 )
2012
15
i>?i>?i>?i>?i>?i>?i>?Giant ulcerating squamous cell carcinoma arising from linear porokeratosis: a case study. ( 23134898 )
2012
16
Unilateral systematized linear porokeratosis: a report of a rare case. ( 21965869 )
2011
17
Linear porokeratosis with nail dystrophy. ( 21697042 )
2011
18
Generalized linear porokeratosis: a rare entity with excellent response to acitretin. ( 21635825 )
2011
19
Linear porokeratosis with follicular involvement. ( 21965874 )
2011
20
A case of linear porokeratosis superimposed on disseminated superficial actinic porokeratosis. ( 21399730 )
2010
21
Congenital linear porokeratosis with pseudoainhum. ( 20956098 )
2010
22
Systematized linear porokeratosis: a rare variant of diffuse porokeratosis with good response to systemic acitretin. ( 19293030 )
2009
23
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. ( 19747331 )
2009
24
[Congenital unilateral linear porokeratosis]. ( 19921107 )
2009
25
Penile linear porokeratosis in a child: a case report. ( 19419477 )
2009
26
Linear porokeratosis: excellent response to photodynamic therapy. ( 19451495 )
2009
27
Clinicopathologic challenge: linear brown macules on the chest and arm. Linear porokeratosis. ( 18477139 )
2008
28
Linear porokeratosis: a case report and review of the literature. ( 18666389 )
2008
29
Coexistence of linear porokeratosis and disseminated superficial actinic porokeratosis: a type 2 segmental manifestation. ( 17598043 )
2007
30
Linear porokeratosis. ( 18319012 )
2007
31
Multicentric Bowen disease in linear porokeratosis. ( 17673390 )
2007
32
Case of linear porokeratosis: successful treatment with topical 5% imiquimod cream. ( 17239156 )
2007
33
Generalized linear porokeratosis. ( 16961514 )
2006
34
A case of extensive linear porokeratosis with evaluation of topical tretinoin versus 5-flourouracil as treatment modalities. ( 16471466 )
2005
35
Linear porokeratosis. ( 16403394 )
2005
36
Congenital facial linear porokeratosis. ( 15953069 )
2005
37
Multiple squamous cell carcinomas complicating linear porokeratosis. ( 12752189 )
2003
38
Case 6: plaques extending in a linear pattern from left ankle to hip forming over a 2-year period. Diagnosis: linear porokeratosis with disseminated superficial porokeratosis erupting in pregnancy. ( 12780739 )
2003
39
Linear porokeratosis associated with disseminated superficial actinic porokeratosis: a new example of type II segmental involvement. ( 14651573 )
2003
40
Linear porokeratosis with underlying bony abnormalities. ( 12080953 )
2002
41
Onychodystrophy in congenital linear porokeratosis. ( 12452890 )
2002
42
Coexistence of disseminated superficial porokeratosis in childhood with congenital linear porokeratosis. ( 11123781 )
2000
43
Linear porokeratosis of mibelli: successful treatment with cryotherapy. ( 10468843 )
1999
44
Squamous cell carcinoma in a renal transplant recipient with linear porokeratosis. ( 10343471 )
1999
45
Linear porokeratosis superimposed on disseminated superficial actinic porokeratosis: report of two cases exemplifying the concept of type 2 segmental manifestation of autosomal dominant skin disorders. ( 10495390 )
1999
46
Linear warty lesions in a child. Linear porokeratosis. ( 10606069 )
1999
47
Cancer proneness of linear porokeratosis may be explained by allelic loss. ( 9267731 )
1997
48
Linear porokeratosis with multiple squamous cell carcinomas: study of p53 expression in porokeratosis and squamous cell carcinoma. ( 8763447 )
1996
49
Linear porokeratosis presenting as erosions in the newborn period. ( 8747577 )
1995
50
Generalized linear porokeratosis treated with etretinate. ( 7726603 )
1995

Variations for Linear Porokeratosis

Cosmic variations for Linear Porokeratosis:

9 (show top 50) (show all 729)
# 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,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 4
2 COSM45774 TP53 skin,arm,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 4
3 COSM10812 TP53 skin,trunk,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 4
4 COSM10704 TP53 skin,trunk,carcinoma,basal cell carcinoma c.844C>T p.R282W 17:7673776-7673776 4
5 COSM43714 TP53 skin,trunk,carcinoma,basal cell carcinoma c.836G>A p.G279E 17:7673784-7673784 4
6 COSM45732 TP53 skin,trunk,carcinoma,basal cell carcinoma c.480G>C p.M160I 17:7675132-7675132 4
7 COSM10863 TP53 skin,trunk,carcinoma,basal cell carcinoma c.833C>T p.P278L 17:7673787-7673787 4
8 COSM45734 TP53 skin,trunk,carcinoma,basal cell carcinoma c.622G>T p.D208Y 17:7674909-7674909 4
9 COSM11376 TP53 skin,trunk,carcinoma,basal cell carcinoma c.737T>G p.M246R 17:7674226-7674226 4
10 COSM45138 TP53 skin,trunk,carcinoma,basal cell carcinoma c.853G>C p.E285Q 17:7673767-7673767 4
11 COSM17548 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.3499G>T p.G1167W 9:95449891-95449891 4
12 COSM17456 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1160G>A p.W387* 9:95479055-95479055 4
13 COSM17480 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1847G>A p.S616N 9:95469813-95469813 4
14 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 3
15 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 3
16 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 3
17 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 3
18 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 3
19 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 3
20 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 3
21 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 3
22 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 3
23 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 3
24 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 3
25 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 3
26 COSM6949578 TP63 skin,NS,carcinoma,basal cell carcinoma c.1922C>T p.A641V 3:189894381-189894381 3
27 COSM44071 TP53 skin,NS,carcinoma,basal cell carcinoma c.955A>G p.K319E 17:7673573-7673573 3
28 COSM44097 TP53 skin,NS,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 3
29 COSM44096 TP53 skin,NS,carcinoma,basal cell carcinoma c.748C>G p.P250A 17:7674215-7674215 3
30 COSM45739 TP53 skin,NS,carcinoma,basal cell carcinoma c.677G>C p.G226A 17:7674286-7674286 3
31 COSM10728 TP53 skin,NS,carcinoma,basal cell carcinoma c.839G>A p.R280K 17:7673781-7673781 3
32 COSM10656 TP53 skin,NS,carcinoma,basal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 3
33 COSM44606 TP53 skin,NS,carcinoma,basal cell carcinoma c.665C>T p.P222L 17:7674866-7674866 3
34 COSM44225 TP53 skin,arm,carcinoma,NS c.859G>A p.E287K 17:7673761-7673761 3
35 COSM44295 TP53 skin,NS,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 3
36 COSM43778 TP53 skin,NS,carcinoma,basal cell carcinoma c.713G>T p.C238F 17:7674250-7674250 3
37 COSM10939 TP53 skin,NS,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 3
38 COSM10650 TP53 skin,NS,carcinoma,basal cell carcinoma c.529C>T p.P177S 17:7675083-7675083 3
39 COSM43665 TP53 skin,NS,carcinoma,basal cell carcinoma c.746G>C p.R249T 17:7674217-7674217 3
40 COSM10662 TP53 skin,NS,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 3
41 COSM10749 TP53 skin,NS,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 3
42 COSM11449 TP53 skin,NS,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 3
43 COSM10660 TP53 skin,NS,carcinoma,basal cell carcinoma c.818G>A p.R273H 17:7673802-7673802 3
44 COSM10771 TP53 skin,NS,carcinoma,basal cell carcinoma c.749C>T p.P250L 17:7674214-7674214 3
45 COSM44068 TP53 skin,NS,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 3
46 COSM11152 TP53 skin,NS,carcinoma,basal cell carcinoma c.700T>C p.Y234H 17:7674263-7674263 3
47 COSM43582 TP53 skin,NS,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 3
48 COSM10768 TP53 skin,NS,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 3
49 COSM45834 TP53 skin,NS,carcinoma,basal cell carcinoma c.409C>A p.L137M 17:7675203-7675203 3
50 COSM10905 TP53 skin,NS,carcinoma,basal cell carcinoma c.451C>T p.P151S 17:7675161-7675161 3

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 MVD MVK PMVK

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 FDPS MVD MVK PMVK
2 steroid metabolic process GO:0008202 9.73 FDPS MVD MVK PMVK
3 cholesterol metabolic process GO:0008203 9.71 FDPS MVD MVK PMVK
4 steroid biosynthetic process GO:0006694 9.67 FDPS MVD MVK PMVK
5 cholesterol biosynthetic process GO:0006695 9.62 FDPS MVD MVK PMVK
6 regulation of cholesterol biosynthetic process GO:0045540 9.46 FDPS MVD MVK PMVK
7 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.43 MVD MVK PMVK
8 sterol biosynthetic process GO:0016126 9.26 FDPS MVD MVK PMVK
9 isoprenoid biosynthetic process GO:0008299 8.92 FDPS MVD MVK PMVK

Sources for Linear Porokeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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