Elastoma
Synonyms: Juvenile elastoma without osteopoikilosis · Nevus elasticus · Weidman juvenile elastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Elastoma | Juvenile elastoma without osteopoikilosis · Nevus elasticus · Weidman juvenile elastoma |
| fr | Elastome | Elastome juvénile de Weidman · Elastome juvénile sans ostéopoecilie · Elastome juvénile sans ostéopoïkilose · Naevus élastique |
| de | Elastoma | Elastom, juveniles, Typ Weidman · Elastom, juveniles, ohne Osteopoikilose · Naevus elasticus |
| es | Elastoma | Elastoma juvenil de Weidman · Elastoma juvenil sin osteopoiquilosis · Nevo elástico |
| it | Elastoma | Elastoma giovanile di Weidman · Elastoma giovanile senza osteopoichilosi · Nevo elastico |
| nl | Elastoom | Juveniel elastoom zonder osteopoikilose · Naevus elasticus · Weidman juveniel elastoom |
| pt | Elastoma | |
| pl | Elastoma | Elastoma typu młodzieńczego bez ostepoikilii · Elastoma typu młodzieńczego Weidmana · Znamię elastyczne |
| cs | Elastom | Juvenilní elastom bez osteopoikilózy · Nevus elasticus · Weidmanův juvenilní elastom |
| uk | Еластома | Ювенільна еластома без остеопоїкілозу · Невус еластичний (Nevus elasticus) · Ювенільна еластома Вайдмана |
| zh | 弹性组织瘤 | 青少年弹性瘤不伴脆弱性骨硬化 |
| tr | Elastom | Elastik nevüs · Weidman jüvenil elastom · Osteopoikiloz olmayan jüvenil elastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | index | validated |
| ICD-11 | LC2Y | NTBT | index | validated |
| MONDO | 0016442 | E | validated | |
| UMLS | C0473583 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228254
- This record as JSON: /data/d/228254.json