Extramammary Paget disease
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extramammary Paget disease | |
| fr | Maladie de Paget extramammaire | |
| de | Paget-Syndrom, extramammär | |
| es | Enfermedad de Paget extramamaria | |
| it | Malattia extramammaria di Paget | |
| nl | Extramammaire ziekte van Paget | |
| pt | Doença de Paget extra-mamária | |
| pl | Pozasutkowa postać choroby Pageta | |
| cs | Extramamární Pagetova nemoc | |
| uk | Екстрамаммарна хвороба Педжета | |
| zh | 乳房外Paget病 | |
| tr | Meme dışı Paget hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 167300 | E | validated | |
| ICD-10 | C44.5 | NTBT | attributed | validated |
| ICD-11 | 2E64.1 | E | specific | validated |
| MONDO | 0008177 | E | validated | |
| MeSH | D010145 | E | validated | |
| UMLS | C0030186 | E | validated | |
| GARD | 4192 | E | validated | |
| MedDRA | 10068223 | 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 (2):
- ORPHA:98063Rare gynecological tumor
rare neoplastic diseases; rare gynecological and obstetric diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERBB2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3430 | ENSG00000141736 | 164870 | 17q12 | erb-b2 receptor tyrosine kinase 2 | 31860417[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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/2800
- This record as JSON: /data/d/2800.json