Pseudoxanthoma elasticum-like papillary dermal elastolysis
Synonyms: PXE-like papillary dermal elastolysis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoxanthoma elasticum-like papillary dermal elastolysis | PXE-like papillary dermal elastolysis |
| fr | Elastolyse dermique papillaire, type pseudoxanthome élastique | Elastolyse dermique papillaire, type PXE |
| de | Pseudoxanthoma elasticum-ähnliche papilläre dermale Elastolyse | PXE-ähnliche Elastolyse, papilläre dermale |
| es | Elastolisis dérmica papilar similar a pseudoxantoma elástico | Elastolisis dérmica papilar pseudoxantoma elástico-like · Elastolisis dérmica papilar tipo PXE |
| it | Elastocitosi dermica papillare simil-pseudoxantoma elastico | Elastocitosi dermica papillare PXE-simile |
| nl | Pseudoxanthoma elasticum-achtige papillaire dermale elastolyse | PXE-achtige papillaire dermale elastolyse |
| pt | Elastocitose da papila dérmica do tipo pseudoxantoma elástico | |
| pl | Brodawkowata elastozytoza skóry podobna do Pseudoxanthoma elasticum | Brodawkowata elastozytoza skóry podobna do PXE |
| cs | Papilární kožní elastocytóza podobná pseudoxanthoma elasticum | Papilární kožní elastocytóza podobná PXE |
| uk | Псевдоксантома еластичноподібний папілярно-дермальний еластоз | PXE-подібний папілярний дермальний еластоліз |
| zh | 弹性假黄瘤样乳头状皮肤弹性蛋白离解 | 弹性假黄瘤样乳头状皮肤弹性蛋白离解 |
| tr | Psödoksantom elastikum benzeri papiller dermal elastoliz | PXE-benzeri papiller dermal elastoliz |
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 | 0016448 | E | validated | |
| UMLS | C4049455 | 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/228293
- This record as JSON: /data/d/228293.json