MCID: ELS003
MIFTS: 18

Elastoderma

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Elastoderma

MalaCards integrated aliases for Elastoderma:

Name: Elastoderma 19 58 71

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Adolescent,Adult 58

Age Of Death:

normal life expectancy 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

UMLS via Orphanet 72 C0406555
Orphanet 58 ORPHA228240
UMLS 71 C0406555

Summaries for Elastoderma

GARD: 19 Elastoderma is a rare condition that affects the skin. People affected by Elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for Elastoderma.

MalaCards based summary: Elastoderma is related to cutis laxa and diaphragmatic hernia, congenital. Affiliated tissues include skin, and related phenotypes are cutis laxa and papule

Orphanet: 58 An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically occurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.

Related Diseases for Elastoderma

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

# Related Disease Score Top Affiliating Genes
1 cutis laxa 10.1
2 diaphragmatic hernia, congenital 10.0
3 enterocele 10.0

Symptoms & Phenotypes for Elastoderma

Human phenotypes related to Elastoderma:

58 30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cutis laxa 58 30 Obligate (100%) Obligate (100%)
HP:0000973
2 papule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200034
3 skin nodule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200036
4 premature skin wrinkling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100678
5 hyperesthesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100963
6 eczema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000964
7 erysipelas 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001055

Drugs & Therapeutics for Elastoderma

Search Clinical Trials, NIH Clinical Center for Elastoderma

Genetic Tests for Elastoderma

Anatomical Context for Elastoderma

Organs/tissues related to Elastoderma:

MalaCards : Skin

Publications for Elastoderma

Articles related to Elastoderma:

# Title Authors PMID Year
1
Giant Diaphragmatic Hernia in Elastoderma. 62
35187904 2022
2
Cutaneous Elastic Tissue Anomalies. 62
30688725 2019
3
Elastoderma: Case Report and Literature Review. 62
25072684 2015
4
Elastoderma: an uncommon cause of acquired hyperextensible skin. 62
22293849 2012
5
Elastoderma of the neck in a teenage boy. 62
16021166 2005
6
Acquired disorders of elastic tissue: part I. Increased elastic tissue and solar elastotic syndromes. 62
15243519 2004
7
Elastoderma. 62
8647986 1996
8
Elastoderma. 62
7615893 1995
9
Skin aging: lessons from cutis laxa and elastoderma. 62
2721242 1989
10
Elastoderma--disease of elastin accumulation within the skin. 62
3974652 1985

Variations for Elastoderma

Expression for Elastoderma

Search GEO for disease gene expression data for Elastoderma.

Pathways for Elastoderma

GO Terms for Elastoderma

Sources for Elastoderma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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