Elastoderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Elastoderma | |
| fr | Elastodermie | |
| de | Elastoderma | |
| es | Elastodermia | |
| it | Elastoderma | |
| nl | Elastoderma | |
| pt | Elastoderma | |
| pl | Elastoderma | |
| cs | Elastoderma | |
| uk | Еластодермія | |
| zh | 真皮弹性蛋白累积症 | |
| tr | Elastoderma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | EE41.Y | NTBT | index | validated |
| MONDO | 0016439 | E | validated | |
| UMLS | C0406555 | E | validated | |
| GARD | 12716 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25072684[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25072684[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2016-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000973 | Cutis laxa | |
| Very frequent (99-80%) | ||
| HP:0200034 | Papule | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0200036 | Skin nodule | |
| Frequent (79-30%) | ||
| HP:0100963 | Hyperesthesia | |
| Occasional (29-5%) | ||
| HP:0000964 | Eczematoid dermatitis | |
| HP:0001055 | Erysipelas | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22293849[PMID]_15243519[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228240
- This record as JSON: /data/d/228240.json