EPS
MCID: ELS002
MIFTS: 33

Elastosis Perforans Serpiginosa (EPS)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Elastosis Perforans Serpiginosa

MalaCards integrated aliases for Elastosis Perforans Serpiginosa:

Name: Elastosis Perforans Serpiginosa 57 20 58 54 70 32
Elastoma Intrapapillare Perforans Verruciformis 57 20
Miescher Elastoma 57 20
Eps 57 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
elastosis perforans serpiginosa:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 130100
ICD10 32 L87.2
MESH via Orphanet 45 C536202
ICD10 via Orphanet 33 L87.2
UMLS via Orphanet 71 C0221271
Orphanet 58 ORPHA79148
MedGen 41 C0221271
UMLS 70 C0221271

Summaries for Elastosis Perforans Serpiginosa

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79148 Definition A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.

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, bone and kidney, and related phenotypes are abnormality of the neck and hyperkeratotic papule

Wikipedia : 73 Elastosis perforans serpiginosa is a unique perforating disorder characterized by transepidermal... more...

More information 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 52)
# Related Disease Score Top Affiliating Genes
1 pseudoxanthoma elasticum 30.8 ELN ABCC6
2 cutis laxa 30.7 ELN ABCC6
3 angioid streaks 30.2 ELN ABCC6
4 skin disease 30.1 TGM1 IVL ELN
5 ichthyosis 29.9 TGM1 IVL
6 kyrle disease 11.4
7 down syndrome 10.8
8 wilson disease 10.7
9 brittle bone disorder 10.6
10 cystinuria 10.6
11 ehlers-danlos syndrome 10.6
12 marfan syndrome 10.4
13 scleroderma, familial progressive 10.4
14 acrogeria, gottron type 10.4
15 aortic aneurysm 10.4
16 connective tissue disease 10.4
17 acne 10.4
18 chromosomal triplication 10.4
19 acquired cutis laxa 10.4
20 ehlers-danlos syndrome, vascular type 10.2
21 keloid formation 10.2
22 moyamoya disease 1 10.2
23 rothmund-thomson syndrome, type 2 10.2
24 ichthyosis, x-linked 10.2
25 keratomalacia 10.2
26 sclerosing cholangitis 10.2
27 hypothyroidism 10.2
28 hepatitis c 10.2
29 hepatitis b 10.2
30 hepatitis 10.2
31 skin atrophy 10.2
32 skin carcinoma 10.2
33 granuloma annulare 10.2
34 systemic scleroderma 10.2
35 hypertrichosis 10.2
36 folliculitis 10.2
37 juvenile rheumatoid arthritis 10.2
38 scabies 10.2
39 localized scleroderma 10.2
40 cholangitis 10.2
41 keloid disorder 10.2
42 47,xyy 10.2
43 atrophoderma of pasini and pierini 10.2
44 secondary sclerosing cholangitis 10.2
45 cutis laxa, autosomal dominant 1 9.9 ELN ABCC6
46 balanitis xerotica obliterans 9.8 TGM1 ELN
47 ichthyosis vulgaris 9.7 TGM1 IVL
48 monilethrix 9.6 TGM1 IVL
49 epidermolytic hyperkeratosis 9.6 TGM1 IVL
50 keratosis 9.5 TGM1 IVL

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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000464
2 hyperkeratotic papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0045059
3 abnormality of the face 58 31 frequent (33%) Frequent (79-30%) HP:0000271
4 skin plaque 58 31 frequent (33%) Frequent (79-30%) HP:0200035
5 erythematous papule 58 31 frequent (33%) Frequent (79-30%) HP:0030350
6 skin-colored papule 58 31 frequent (33%) Frequent (79-30%) HP:0025512
7 annular cutaneous lesion 58 31 frequent (33%) Frequent (79-30%) HP:0025528
8 serpiginous cutaneous lesion 58 31 frequent (33%) Frequent (79-30%) HP:0025527
9 cutis laxa 58 31 occasional (7.5%) Occasional (29-5%) HP:0000973
10 crusting erythematous dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007473
11 epidermal acanthosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0025092
12 nevus 31 HP:0003764

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
isolated elastosis perforans serpiginosa

Clinical features from OMIM®:

130100 (Updated 20-May-2021)

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:

40
Skin, Bone, Kidney

Publications for Elastosis Perforans Serpiginosa

Articles related to Elastosis Perforans Serpiginosa:

(show top 50) (show all 205)
# Title Authors PMID Year
1
Familial elastosis perforans serpiginosa. 61 57
7679569 1993
2
Elastosis perforans serpiginosa. Report of a family. 57 61
6840372 1983
3
Elastosis perforans serpiginosa. 57 61
6628803 1983
4
Elastin peptides induce migration and terminal differentiation of cultured keratinocytes via 67 kDa elastin receptor in vitro: 67 kDa elastin receptor is expressed in the keratinocytes eliminating elastic materials in elastosis perforans serpiginosa. 54 61
10998135 2000
5
Fibronectin and the extracellular matrix in the perforating disorders of the skin. 54 61
9557783 1998
6
A case of acquired disseminated elastosis perforans serpiginosa in a patient with HIV, hepatitis B and hepatitis C successfully treated with narrowband ultraviolet B therapy. 61
32931593 2021
7
Clinical practice guide for the treatment of perforating dermatosis. 61
33094871 2020
8
Treatment of extensive elastosis perforans serpiginosa with acitretin in a man with Down syndrome. 61
33226122 2020
9
A case of elastosis perforans serpiginosa associated with long-term treatment with penicillamine. 61
32808280 2020
10
Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate. 61
31646622 2020
11
Elastosis perforans serpiginosa induced by d-penicillamine treated with cyclosporine and allopurinol. 61
32458537 2020
12
Elastosis Perforans Serpiginosa: a D-penicillamine induced dermatoses in a patient with Wilson's disease. 61
33344284 2020
13
Elastosis perforans serpiginosa related to vascular Ehlers-Danlos syndrome. 61
30982307 2019
14
Cutaneous Elastic Tissue Anomalies. 61
30688725 2019
15
D-penicillamine-induced pseudo-pseudoxanthoma elasticum and extensive elastosis perforans serpiginosa with excellent response to acitretin. 61
30712052 2019
16
Pulse Dye Laser Therapy Successful for Elastosis Perforans Serpiginosa. 61
31934466 2019
17
Dermatologische Aspekte aus der S2k-Leitlinie zum Down-Syndrom im Kindes- und Jugendalter. 61
30300478 2018
18
Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence. 61
30300491 2018
19
Elastosis perforans serpiginosa: causes and associated disorders. 61
30129530 2018
20
A case of paraneoplastic elastosis perforans serpiginosa associated with ovarian malignancy. 61
29355938 2018
21
Idiopathic elastosis perforans serpiginosa with satisfactory response after 5-ALA photodynamic therapy. 61
29129543 2018
22
Treatment of Elastosis Perforans Serpiginosa Using a Fractional Carbon Dioxide Laser. 61
28746703 2017
23
D-penicillamine-induced Elastosis Perforans Serpiginosa. 61
28776563 2017
24
No rubbing, no elastosis perforans serpiginosa. 61
28444775 2017
25
Non-Healing Perianal Ulcers in a Healthy Elderly Male: An Unusual Case of Perforating Dermatosis. 61
28346010 2017
26
Penicillamine-induced Elastosis Perforans Serpiginosa in Wilson Disease: Is Useful Switching to Zinc? 61
25341025 2017
27
Elastosis perforans serpiginosa in a patient with Wilson's disease. 61
28403984 2017
28
Hidradenitis Suppurativa and Concomitant Down Syndrome: Literature Review of Other Associated Mucocutaneous Manifestations in Adults. 61
28859733 2017
29
Perforating pseudoxanthoma elasticum with secondary elastosis perforans serpiginosa-like changes: dermoscopy, confocal microscopy and histopathological correlation. 61
27404989 2016
30
Elastosis perforans serpiginosa: a review of the literature and our own experience. 61
27881947 2016
31
Acquired perforating dermatosis in a patient with chronic renal failure. 61
28300880 2016
32
Dermoscopy and direct immunofluorescence findings of elastosis perforans serpiginosa. 61
27378586 2016
33
Two cases of D-penicillamine-induced elastosis perforans serpiginosa. 61
27279318 2016
34
Elastophagocytosis and Elastolysis in Leprosy. 61
29757546 2016
35
[Elastosis Perforans Serpiginosa and Wilson Disease: A Rare but Predictable Consequence of Long-term Therapy with D-Penicillamine]. 61
27285100 2016
36
Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association. 61
27057491 2016
37
Drug-induced elastosis perforans serpiginosa. 61
26643186 2015
38
Dermoscopy of elastosis perforans serpiginosa: A useful tool to distinguish it from granuloma annulare. 61
26089077 2015
39
Effective treatment of d-penicillamine induced elastosis perforans serpiginosa with ALA-PDT. 61
25463318 2015
40
Detection of D-penicillamine in skin lesions in a case of dermal elastosis after a previous long-term treatment for Wilson's disease. 61
24404914 2015
41
Elastosis perforans serpiginosa: a case of a penicillamine-induced degenerative dermatosis. 61
24740398 2014
42
A clinicopathologic study of thirty cases of acquired perforating dermatosis in Korea. 61
24882969 2014
43
Elastosis perforans serpiginosa. 61
24860779 2014
44
Elastosis perforans serpiginosa. 61
24648695 2014
45
Elastosis perforans serpiginosa: a case successfully treated with intralesional steroids and topical allium cepa-allantoin-pentaglycan gel. 61
24964949 2014
46
Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use. 61
23796907 2013
47
Perforating disorders of the skin. 61
24441221 2013
48
Elastosis perforans serpiginosa in association with scabies mite. 61
24155992 2013
49
Penicillamine revisited: historic overview and review of the clinical uses and cutaneous adverse effects. 61
23605177 2013
50
Chronic annular lesions of the cheeks. Elastosis perforans serpiginosa (EPS). 61
23679872 2013

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 TGM1 IVL

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 TGM1 IVL

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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