ORPHA:280785
Bullous diffuse cutaneous mastocytosis
Synonyms: Bullous DCM
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bullous diffuse cutaneous mastocytosis | Bullous DCM |
| fr | Mastocytose cutanée diffuse bulleuse | DCM bulleuse |
| de | Mastozytose, bullöse diffuse kutane | DCM, bullöse |
| es | Mastocitosis cutánea difusa ampollosa | MCD ampollosa |
| it | Mastocitosi cutanea diffusa bollosa | DCM bollosa |
| nl | Bulleuze diffuse cutane mastocytose | Bulleuze DCM |
| pt | Mastocitose cutânea difusa bolhosa | DCM bolhosa |
| pl | Pęcherzowa rozlana mastocytoza skórna | Pęcherzowa DCM |
| cs | Bulózní difuzní kožní mastocytóza | Bulózní DCM |
| uk | Бульозний дифузний шкірний мастоцитоз | Бульозний DCM |
| zh | 大疱性弥漫性皮肤肥大细胞增多症 | Bullous型DCM |
| tr | Büllöz yaygın kutanöz mastositoz | Bülloz DCM |
Definition in:
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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 | 0017243 | E | validated | |
| UMLS | C5546764 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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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] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 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.
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HPO phenotypes
7 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 | |
| HP:0001019 | Erythroderma | |
| HP:0005587 | Profuse pigmented skin lesions | |
| HP:0000989 | Pruritus | |
| HP:0001025 | Urticaria | |
| Occasional (29-5%) | ||
| HP:0006543 | Cardiorespiratory arrest | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280785
- This record as JSON: /data/d/280785.json