Pseudoxanthomatous diffuse cutaneous mastocytosis
Synonyms: Infiltrative small vesicular DCM · Infiltrative small vesicular diffuse cutaneous mastocytosis · Pseudoxanthomatous DCM
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoxanthomatous diffuse cutaneous mastocytosis | Infiltrative small vesicular DCM · Infiltrative small vesicular diffuse cutaneous mastocytosis · Pseudoxanthomatous DCM |
| fr | Mastocytose cutanée diffuse pseudoxanthomateuse | |
| de | Kutane Mastozytose, diffuse pseudoxanthomatöse | DCM, pseudoxanthomatöse |
| es | Mastocitosis cutánea difusa pseudoxantomatosa | MCD pseudoxantomatosa · Mastocitosis cutánea difusa infiltrativa vesicular pequeña · MCD infiltrativa vesicular pequeña |
| it | Mastocitosi cutanea diffusa pseudoxantomatosa | DCM infiltrativa a piccole vescicole · DCM pseudoxantomatosa · Mastocitosi cutena diffusa infiltrativa a piccole vescicole |
| nl | Pseudoxanthomateuze diffuse cutane mastocytose | Infiltratieve kleine vesiculaire DCM · Infiltratieve kleine vesiculaire diffuse cutane mastocytose · Pseudoxanthomateuze DCM |
| pt | Mastocitose cutânea difusa pseudoxantomatosa | DCM pseudoxantomatosa |
| pl | Pseudożółtakowata rozlana mastocytoza skórna | DCM naciekająca dotycząca drobnych naczyń · Mastozytoza skórna rozsiana z naciekaniem drobnych naczyń · Pseudożółtakowa DCM |
| cs | Pseudoxantomatózní difuzní kožní mastocytóza | Infiltrativní vezikulární DCM s malými vezikuly · Infiltrativní difuzní kožní mastocytóza s malými vezikuly · Pseudoxantomatózní DCM |
| uk | Псевдоксантоматозний дифузний шкірний мастоцитоз | Інфільтративна дрібнопухирчаста DCM · Інфільтративний дрібнопухирчастий дифузний шкірний мастоцитоз · Псевдоксантоматозний DCM |
| zh | Pseudoxanthomatous diffuse cutaneous mastocytosis | 浸润性小水泡型弥漫性皮肤肥大细胞增生症 |
| tr | Psödoksantoma diffüz kutanöz mastositoz | Psödoksantoma DCM · İnfiltratif küçük veziküler DCM · İnfiltratif küçük veziküler yaygın kutanöz mastositoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.2 | NTBT | attributed | validated |
| ICD-11 | 2A21.1Y | NTBT | index | validated |
| MONDO | 0017244 | E | validated | |
| UMLS | C5679949 | 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):
- ORPHA:79456Diffuse cutaneous mastocytosis
rare skin diseases; rare hematological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIT | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 15173254[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0200151 | Cutaneous mastocytosis | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280794
- This record as JSON: /data/d/280794.json