Acquired pseudoxanthoma elasticum
Synonyms: Acquired Gronblad-Strandberg-Touraine syndrome · Acquired PXE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acquired pseudoxanthoma elasticum | Acquired Gronblad-Strandberg-Touraine syndrome · Acquired PXE |
| fr | Pseudoxanthome élastique acquis | PXE acquis · Syndrome de Gronblad-Strandberg-Touraine acquis |
| de | Pseudoxanthoma elasticum, erworbenes | Groenblad-Strandberg-Syndrom, erworbenes · PXE, erworbene Form |
| es | Pseudoxantoma elástico adquirido | PXE adquirido · Síndrome de Gronblad-Strandberg-Touraine adquirido |
| it | Pseudoxantoma elastico acquisito | PXE acquisito · Sindrome acquisita di Gronblad-Strandberg-Touraine |
| nl | Verworven pseudoxanthoma elasticum | Verworven PXE · Verworven syndroom van Gronblad-Strandberg-Touraine |
| pt | Pseudoxantoma elástico adquirido | |
| pl | Nabyte kępki żółte rzekome | Nabyte PXE · Nabyty zespół Gronblada, Strandberga i Touraine'a |
| cs | Získané pseudoxanthoma elasticum | Získané PXE · Získaný Gronbladův-Strandbergův-Touraineův syndrom · Získaný Gronblad-Strandberg-Touraineův syndrom |
| uk | Набута псевдоксантома еластична | Набутий синдром Гронблада-Страндберга-Турена · Набутий PXE |
| zh | 获得性弹性假黄瘤 | 获得性Gronblad-Strandberg-Touraine综合征 |
| tr | Edinsel psödoksantoma elastikum | Edinsel PXE · Edinsel Gronblad-Strandberg-Touraine sendromu |
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 | 0016441 | E | validated | |
| UMLS | C1274759 | 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 | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/228247
- This record as JSON: /data/d/228247.json