Diffuse cutaneous mastocytosis
Synonyms: DCM · Diffuse cutaneous maculopapulous mastocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse cutaneous mastocytosis | DCM · Diffuse cutaneous maculopapulous mastocytosis |
| fr | Mastocytose cutanée diffuse | DCM |
| de | Mastozytose, kutane, diffuse Form | Diffuse kutane Mastozytose (DCM) |
| es | Mastocitosis cutánea difusa | DCM · Mastocitosis maculopapular cutánea difusa |
| it | Mastocitosi cutanea diffusa | DCM · Mastocitosi maculopapulosa cutanea diffusa |
| nl | Diffuse cutane mastocytose | DCM · Diffuse cutane maculopapuleuze mastocytose |
| pt | Mastocitose cutânea difusa | |
| pl | Rozlana mastocytoza skórna | = en |
| cs | Difuzní kožní mastocytóza | DCM · Difuzní kožní makulopapulózní mastocytóza |
| uk | Дифузний шкірний мастоцитоз | DCM · Дифузний шкірний макулопапульозний мастоцитоз |
| zh | 弥漫皮肤性肥大细胞增多 | 弥漫皮肤斑丘疹性肥大细胞增多 |
| tr | Diffüz kutanöz mastositoz | DCM · Yaygın kutanöz makulopapulöz 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 |
| ICD-11 | XH2RG8 | E | specific | validated |
| MONDO | 0019315 | E | validated | |
| UMLS | C0024901 | E | validated | |
| GARD | 12686 | E | validated | |
| MedDRA | 10012812 | 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:66646Cutaneous mastocytosis
rare skin diseases; rare hematological diseases; rare neoplastic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| KIT | ORPHA:280785Bullous diffuse cutaneous mastocytosis | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 15173254[PMID] |
| KIT | ORPHA:280794Pseudoxanthomatous diffuse cutaneous mastocytosis | 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 | 30 cases | Worldwide | Case(s) | Validated | 20678092[PMID] | |
| 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
31 annotations · validated 2021-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025081 | Darier's sign | |
| HP:0031284 | Flushing | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration | |
| HP:0000989 | Pruritus | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0100845 | Anaphylactic shock | |
| HP:0002014 | Diarrhea | |
| HP:0002315 | Headache | |
| HP:0002615 | Hypotension | |
| HP:0100827 | Lymphocytosis | |
| HP:0004395 | Malnutrition | |
| HP:0025533 | Peau d'orange | |
| HP:0200041 | Skin erosion | |
| HP:0001072 | Thickened skin | |
| HP:0001025 | Urticaria | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001392 | Abnormality of the liver | |
| HP:0011971 | Dermatographic urticaria | |
| HP:0001019 | Erythroderma | |
| HP:0001945 | Fever | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002240 | Hepatomegaly | |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin | |
| HP:0040189 | Scaling skin | |
| HP:0030828 | Wheezing | |
| Very rare (<4-1%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0002716 | Lymphadenopathy | |
| HP:0005547 | Myeloproliferative disorder | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 22092511[PMID]_30187958[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79456
- This record as JSON: /data/d/79456.json