EPE
MCID: ELS002
MIFTS: 34

Elastosis Perforans Serpiginosa (EPE)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Elastosis Perforans Serpiginosa

MalaCards integrated aliases for Elastosis Perforans Serpiginosa:

Name: Elastosis Perforans Serpiginosa 58 54 60 56 74
Elastoma Intrapapillare Perforans Verruciformis 58 54
Miescher Elastoma 58 54
Eps 58 54
Epe 77

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
elastosis perforans serpiginosa:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 130100
ICD10 34 L87.2
MESH via Orphanet 46 C536202
ICD10 via Orphanet 35 L87.2
UMLS via Orphanet 75 C0221271
Orphanet 60 ORPHA79148
MedGen 43 C0221271
UMLS 74 C0221271

Summaries for Elastosis Perforans Serpiginosa

MalaCards based summary : Elastosis Perforans Serpiginosa, also known as elastoma intrapapillare perforans verruciformis, is related to pseudoxanthoma elasticum and cutis laxa. An important gene associated with Elastosis Perforans Serpiginosa is ABCC6 (ATP Binding Cassette Subfamily C Member 6), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin, and related phenotype is nevus.

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Description from OMIM: 130100

Related Diseases for Elastosis Perforans Serpiginosa

Diseases related to Elastosis Perforans Serpiginosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 31.2 ELN ABCC6
2 cutis laxa 30.8 ELN ABCC6
3 eosinophilic pneumonia 11.7
4 kyrle disease 11.6
5 meier-gorlin syndrome 1 11.4
6 neuroblastoma 10.6
7 down syndrome 10.6
8 scleroderma, familial progressive 10.5
9 brittle bone disorder 10.5
10 rheumatoid arthritis 10.3
11 moyamoya disease 1 10.3
12 wilson disease 10.3
13 arthritis 10.3
14 granuloma annulare 10.3
15 ehlers-danlos syndrome 10.3
16 folliculitis 10.3
17 juvenile rheumatoid arthritis 10.3
18 scabies 10.3
19 47,xyy 10.3
20 bronchitis 10.3
21 breast cancer 10.2
22 exophthalmos 10.1
23 lung cancer 10.1
24 colorectal cancer 10.0
25 ovarian cancer 10.0
26 small cell cancer of the lung 10.0
27 brugada syndrome 10.0
28 cholera 10.0
29 adenocarcinoma 10.0
30 allergic encephalomyelitis 10.0
31 optic disk drusen 9.9 ELN ABCC6
32 retinoblastoma 9.9
33 tardive dyskinesia 9.9
34 aplastic anemia 9.9
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
36 diamond-blackfan anemia 9.9
37 pemphigus foliaceus 9.9
38 common cold 9.9
39 squamous cell carcinoma 9.9
40 dyspepsia 9.9
41 periodontal disease 9.9
42 hermansky-pudlak syndrome 9.9
43 germ cells tumors 9.9
44 gestational trophoblastic tumor 9.9
45 posttransplant acute limbic encephalitis 9.9
46 connective tissue disease 9.8 ELN ABCC6
47 leukemia, chronic lymphocytic 2 9.7
48 hepatocellular carcinoma 9.7
49 creutzfeldt-jakob disease 9.7
50 esterase c 9.7

Graphical network of the top 20 diseases related to Elastosis Perforans Serpiginosa:



Diseases related to Elastosis Perforans Serpiginosa

Symptoms & Phenotypes for Elastosis Perforans Serpiginosa

Human phenotypes related to Elastosis Perforans Serpiginosa:

33
# Description HPO Frequency HPO Source Accession
1 nevus 33 HP:0003764

Symptoms via clinical synopsis from OMIM:

58
Skin:
isolated elastosis perforans serpiginosa

Clinical features from OMIM:

130100

Drugs & Therapeutics for Elastosis Perforans Serpiginosa

Search Clinical Trials , NIH Clinical Center for Elastosis Perforans Serpiginosa

Genetic Tests for Elastosis Perforans Serpiginosa

Anatomical Context for Elastosis Perforans Serpiginosa

MalaCards organs/tissues related to Elastosis Perforans Serpiginosa:

42
Skin

Publications for Elastosis Perforans Serpiginosa

Articles related to Elastosis Perforans Serpiginosa:

(show top 50) (show all 128)
# Title Authors Year
1
D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin. ( 30712052 )
2019
2
A case of paraneoplastic elastosis perforans serpiginosa associated with ovarian malignancy. ( 29355938 )
2018
3
Elastosis perforans serpiginosa: causes and associated disorders. ( 30129530 )
2018
4
Treatment of Elastosis Perforans Serpiginosa Using a Fractional Carbon Dioxide Laser. ( 28746703 )
2017
5
IDIOPATHIC ELASTOSIS PERFORANS SERPIGINOSA WITH SATISFACTORY RESPONSE AFTER 5-ALA PHOTODYNAMIC THERAPY. ( 29129543 )
2017
6
D-penicillamine-induced Elastosis Perforans Serpiginosa. ( 28776563 )
2017
7
No rubbing, no elastosis perforans serpiginosa. ( 28444775 )
2017
8
Elastosis perforans serpiginosa in a patient with Wilson's disease. ( 28403984 )
2017
9
Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association. ( 27057491 )
2016
10
Two cases of D-penicillamine-induced elastosis perforans serpiginosa. ( 27025282 )
2016
11
Two cases of D-penicillamine-induced elastosis perforans serpiginosa. ( 27279318 )
2016
12
Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation. ( 27404989 )
2016
13
Elastosis perforans serpiginosa: a review of the literature and our own experience. ( 27881947 )
2016
14
Dermoscopy and direct immunofluorescence findings of elastosis perforans serpiginosa. ( 27378586 )
2016
15
Drug-induced elastosis perforans serpiginosa. ( 26643186 )
2015
16
Effective treatment of d-penicillamine induced elastosis perforans serpiginosa with ALA-PDT. ( 25463318 )
2015
17
Dermoscopy of elastosis perforans serpiginosa: A useful tool to distinguish it from granuloma annulare. ( 26089077 )
2015
18
Elastosis perforans serpiginosa: a case of a penicillamine-induced degenerative dermatosis. ( 24740398 )
2014
19
Elastosis perforans serpiginosa: a case successfully treated with intralesional steroids and topical allium cepa-allantoin-pentaglycan gel. ( 24964949 )
2014
20
Penicillamine-Induced Elastosis Perforans Serpiginosa in Wilson's Disease: is Useful Switching to Zinc? ( 25341025 )
2014
21
Elastosis perforans serpiginosa. ( 24648695 )
2014
22
Elastosis perforans serpiginosa. ( 24860779 )
2014
23
Elastosis perforans serpiginosa in association with scabies mite. ( 24155992 )
2013
24
Acquired perforating disorder reminiscent of elastosis perforans serpiginosa in a patient with BehAset disease. ( 23398576 )
2013
25
Chronic annular lesions of the cheeks. Elastosis perforans serpiginosa (EPS). ( 23679872 )
2013
26
An erythematous papular lesion on the neck of a young boy. Elastosis perforans serpiginosa. ( 22970814 )
2012
27
A case of elastosis perforans serpiginosa treatment with cryotherapy. ( 23171016 )
2012
28
Treatment of elastosis perforans serpiginosa with the pinhole method using a carbon dioxide laser. ( 21388484 )
2011
29
D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature. ( 21549078 )
2011
30
Newly diagnosed Ehlers-Danlos syndrome in an adult with elastosis perforans serpiginosa. ( 21679829 )
2011
31
An 18-year follow-up of a case of D-penicillamine-induced Elastosis perforans serpiginosa. ( 21496412 )
2011
32
Penicillamine-induced elastosis perforans serpiginosa with abnormal "lumpy-bumpy" elastic fibers in lesional and non-lesional skin. ( 21220881 )
2011
33
D-penicillamine induced elastosis perforans serpiginosa mimicking acne keloidalis nuchae. ( 21965866 )
2011
34
Unknown: Papules on the knees. Elastosis perforans serpiginosa (EPS). ( 21635834 )
2011
35
Elastosis Perforans Serpiginosa in a patient with Down syndrome treated with imiquimod 5% cream. ( 25386246 )
2010
36
Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease. ( 21165224 )
2010
37
Elastosis perforans serpiginosa in a patient with Down's syndrome. ( 21152796 )
2010
38
Annular and keratotic papules and plaques in a teenager. Elastosis perforans serpiginosa (EPS). ( 19687428 )
2009
39
An uncommon association: elastosis perforans serpiginosa and osteogenesis imperfecta. ( 18422533 )
2009
40
Elastosis perforans serpiginosa, Down syndrome, and moyamoya disease. ( 18358411 )
2008
41
Acquired perforating dermatosis appearing as elastosis perforans serpiginosa and perforating folliculitis. ( 18616731 )
2008
42
Elastosis perforans serpiginosa. ( 17786109 )
2007
43
Imiquimod therapy for elastosis perforans serpiginosa. ( 16847197 )
2006
44
Elastosis perforans serpiginosa in a patient with trisomy 21. ( 16962020 )
2006
45
What is standard of care in the evaluation of elastosis perforans serpiginosa? A survey of pediatric dermatologists. ( 16780466 )
2006
46
Elastosis perforans serpiginosa secondary to D-penicillamine therapy with coexisting cutis laxa. ( 16144289 )
2005
47
Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine. ( 15604549 )
2005
48
Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease. ( 16086762 )
2005
49
Penicillamine induced pseudoxanthoma elasticum with elastosis perforans serpiginosa. ( 16394408 )
2005
50
Response of elastosis perforans serpiginosa to pulsed CO2, Er:YAG, and dye lasers. ( 12786719 )
2003

Variations for Elastosis Perforans Serpiginosa

Expression for Elastosis Perforans Serpiginosa

Search GEO for disease gene expression data for Elastosis Perforans Serpiginosa.

Pathways for Elastosis Perforans Serpiginosa

Pathways related to Elastosis Perforans Serpiginosa according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 IVL TGM1

GO Terms for Elastosis Perforans Serpiginosa

Cellular components related to Elastosis Perforans Serpiginosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 IVL TGM1

Biological processes related to Elastosis Perforans Serpiginosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 TGM1 IVL
2 cornification GO:0070268 9.16 TGM1 IVL
3 keratinocyte differentiation GO:0030216 8.96 TGM1 IVL
4 peptide cross-linking GO:0018149 8.62 TGM1 IVL

Sources for Elastosis Perforans Serpiginosa

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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