Elastosis perforans serpiginosa
General Information (adopted from Orphanet):
Synonyms, Signs:
|
ELASTOMA INTRAPAPILLARE PERFORANS VERRUCIFORMIS
MIESCHER ELASTOMA
EPS
|
Number of Symptoms
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3
|
OrphanetNr:
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79148
|
OMIM Id:
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130100
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ICD-10:
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L87.2
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UMLs:
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C0221271
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MeSH:
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C536202
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MedDRA:
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10014338
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Snomed:
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49428008
|
Prevalence, inheritance and age of onset:
Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
|
|
Disease classification (adopted from Orphanet):
Parent Diseases:
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Acquired dermis elastic tissue disorder with increased elastic tissue
-Rare skin disease
|
|
|
|
|
|
|
|
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1
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(HPO:0003764)
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Nevus |
|
|
|
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17 / 7739
|
2
|
(HPO:0000006)
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Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
3
|
(OMIM)
|
Isolated elastosis perforans serpiginosa |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |