MCID: ELS002
MIFTS: 33

Elastosis Perforans Serpiginosa

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Elastosis Perforans Serpiginosa

MalaCards integrated aliases for Elastosis Perforans Serpiginosa:

Name: Elastosis Perforans Serpiginosa 57 53 59 55 73
Elastoma Intrapapillare Perforans Verruciformis 57 53
Miescher Elastoma 57 53
Eps 57 53
Epe 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
elastosis perforans serpiginosa:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 130100
Orphanet 59 ORPHA79148
ICD10 via Orphanet 34 L87.2
MESH via Orphanet 45 C536202
UMLS via Orphanet 74 C0221271
MedGen 42 C0221271
ICD10 33 L87.2
UMLS 73 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 lung, and related phenotype is nevus.

Wikipedia : 76 Elastosis perforans serpiginosa is a unique perforating disorder characterized by transepidermal... more...

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 all 38)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.8 ABCC6 ELN
2 cutis laxa 30.5 ABCC6 ELN
3 eosinophilic pneumonia 11.5
4 kyrle disease 11.4
5 meier-gorlin syndrome 1 11.2
6 neuroblastoma 10.5
7 down syndrome 10.4
8 scleroderma, familial progressive 10.3
9 brittle bone disorder 10.3
10 rheumatoid arthritis 10.2
11 moyamoya disease 1 10.2
12 wilson disease 10.2
13 arthritis 10.2
14 granuloma annulare 10.2
15 ehlers-danlos syndrome 10.2
16 folliculitis 10.2
17 juvenile rheumatoid arthritis 10.2
18 scabies 10.2
19 47,xyy 10.2
20 breast cancer 10.1
21 bronchitis 10.0
22 lung cancer 10.0
23 optic disk drusen 9.9 ABCC6 ELN
24 colorectal cancer 9.9
25 ovarian cancer 9.9
26 small cell cancer of the lung 9.9
27 squamous cell carcinoma 9.9
28 adenocarcinoma 9.9
29 exophthalmos 9.9
30 brugada syndrome 9.8
31 pancreatitis 9.8
32 endotheliitis 9.8
33 diamond-blackfan anemia 9.8
34 hermansky-pudlak syndrome 9.8
35 connective tissue disease 9.7 ABCC6 ELN
36 congenital ichthyosiform erythroderma 9.3 IVL TGM1
37 skin disease 9.1 IVL TGM1
38 psoriasis 8.9 IVL TGM1

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



Diseases related to Elastosis Perforans Serpiginosa

Symptoms & Phenotypes for Elastosis Perforans Serpiginosa

Symptoms via clinical synopsis from OMIM:

57
Skin:
isolated elastosis perforans serpiginosa


Clinical features from OMIM:

130100

Human phenotypes related to Elastosis Perforans Serpiginosa:

32
# Description HPO Frequency HPO Source Accession
1 nevus 32 HP:0003764

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:

41
Skin, Lung

Publications for Elastosis Perforans Serpiginosa

Articles related to Elastosis Perforans Serpiginosa:

(show top 50) (show all 122)
# Title Authors Year
1
A case of paraneoplastic elastosis perforans serpiginosa associated with ovarian malignancy. ( 29355938 )
2018
2
Treatment of Elastosis Perforans Serpiginosa Using a Fractional Carbon Dioxide Laser. ( 28746703 )
2017
3
IDIOPATHIC ELASTOSIS PERFORANS SERPIGINOSA WITH SATISFACTORY RESPONSE AFTER 5-ALA PHOTODYNAMIC THERAPY. ( 29129543 )
2017
4
D-penicillamine-induced Elastosis Perforans Serpiginosa. ( 28776563 )
2017
5
No rubbing, no elastosis perforans serpiginosa. ( 28444775 )
2017
6
Elastosis perforans serpiginosa in a patient with Wilson's disease. ( 28403984 )
2017
7
Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association. ( 27057491 )
2016
8
Two cases of D-penicillamine-induced elastosis perforans serpiginosa. ( 27025282 )
2016
9
Two cases of D-penicillamine-induced elastosis perforans serpiginosa. ( 27279318 )
2016
10
Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation. ( 27404989 )
2016
11
Elastosis perforans serpiginosa: a review of the literature and our own experience. ( 27881947 )
2016
12
Dermoscopy and direct immunofluorescence findings of elastosis perforans serpiginosa. ( 27378586 )
2016
13
Drug-induced elastosis perforans serpiginosa. ( 26643186 )
2015
14
Effective treatment of d-penicillamine induced elastosis perforans serpiginosa with ALA-PDT. ( 25463318 )
2015
15
Dermoscopy of elastosis perforans serpiginosa: A useful tool to distinguish it from granuloma annulare. ( 26089077 )
2015
16
Elastosis perforans serpiginosa: a case of a penicillamine-induced degenerative dermatosis. ( 24740398 )
2014
17
Elastosis perforans serpiginosa: a case successfully treated with intralesional steroids and topical allium cepa-allantoin-pentaglycan gel. ( 24964949 )
2014
18
Penicillamine-Induced Elastosis Perforans Serpiginosa in Wilson's Disease: is Useful Switching to Zinc? ( 25341025 )
2014
19
Elastosis perforans serpiginosa. ( 24648695 )
2014
20
Elastosis perforans serpiginosa. ( 24860779 )
2014
21
Elastosis perforans serpiginosa in association with scabies mite. ( 24155992 )
2013
22
Acquired perforating disorder reminiscent of elastosis perforans serpiginosa in a patient with BehAset disease. ( 23398576 )
2013
23
Chronic annular lesions of the cheeks. Elastosis perforans serpiginosa (EPS). ( 23679872 )
2013
24
An erythematous papular lesion on the neck of a young boy. Elastosis perforans serpiginosa. ( 22970814 )
2012
25
A case of elastosis perforans serpiginosa treatment with cryotherapy. ( 23171016 )
2012
26
Treatment of elastosis perforans serpiginosa with the pinhole method using a carbon dioxide laser. ( 21388484 )
2011
27
D-penicillamine elastosis perforans serpiginosa: description of two cases and review of the literature. ( 21549078 )
2011
28
Newly diagnosed Ehlers-Danlos syndrome in an adult with elastosis perforans serpiginosa. ( 21679829 )
2011
29
An 18-year follow-up of a case of D-penicillamine-induced Elastosis perforans serpiginosa. ( 21496412 )
2011
30
Penicillamine-induced elastosis perforans serpiginosa with abnormal "lumpy-bumpy" elastic fibers in lesional and non-lesional skin. ( 21220881 )
2011
31
D-penicillamine induced elastosis perforans serpiginosa mimicking acne keloidalis nuchae. ( 21965866 )
2011
32
Unknown: Papules on the knees. Elastosis perforans serpiginosa (EPS). ( 21635834 )
2011
33
Elastosis Perforans Serpiginosa in a patient with Down syndrome treated with imiquimod 5% cream. ( 25386246 )
2010
34
Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease. ( 21165224 )
2010
35
Elastosis perforans serpiginosa in a patient with Down's syndrome. ( 21152796 )
2010
36
Annular and keratotic papules and plaques in a teenager. Elastosis perforans serpiginosa (EPS). ( 19687428 )
2009
37
An uncommon association: elastosis perforans serpiginosa and osteogenesis imperfecta. ( 18422533 )
2009
38
Elastosis perforans serpiginosa, Down syndrome, and moyamoya disease. ( 18358411 )
2008
39
Acquired perforating dermatosis appearing as elastosis perforans serpiginosa and perforating folliculitis. ( 18616731 )
2008
40
Elastosis perforans serpiginosa. ( 17786109 )
2007
41
Imiquimod therapy for elastosis perforans serpiginosa. ( 16847197 )
2006
42
Elastosis perforans serpiginosa in a patient with trisomy 21. ( 16962020 )
2006
43
What is standard of care in the evaluation of elastosis perforans serpiginosa? A survey of pediatric dermatologists. ( 16780466 )
2006
44
Elastosis perforans serpiginosa secondary to D-penicillamine therapy with coexisting cutis laxa. ( 16144289 )
2005
45
Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine. ( 15604549 )
2005
46
Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease. ( 16086762 )
2005
47
Response of elastosis perforans serpiginosa to pulsed CO2, Er:YAG, and dye lasers. ( 12786719 )
2003
48
Elastosis perforans serpiginosa of the penis. ( 12603430 )
2003
49
Elastosis perforans serpiginosa secondary to D-penicillamine treatment in a Wilson's disease patient. ( 12190204 )
2002
50
Tazarotene is an effective therapy for elastosis perforans serpiginosa. ( 11843635 )
2002

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 IVL TGM1
2 cornification GO:0070268 9.16 IVL TGM1
3 keratinocyte differentiation GO:0030216 8.96 IVL TGM1
4 peptide cross-linking GO:0018149 8.62 IVL TGM1

Sources for Elastosis Perforans Serpiginosa

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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