Maculopapular cutaneous mastocytosis
Synonyms: Urticaria pigmentosa
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maculopapular cutaneous mastocytosis | Urticaria pigmentosa |
| fr | Mastocytose cutanée maculopapulaire | Urticaire pigmentaire |
| de | Mastozytose, kutane makulopapuläre | |
| es | Mastocitosis cutánea maculopapular | Urticaria pigmentaria · Urticaria pigmentosa |
| it | Mastocitosi cutanea maculopapulosa | Orticaria pigmentosa |
| nl | Maculopapulaire cutane mastocytose | = en |
| pt | Mastocitose cutânea maculopapular | Urticária pigmentosa |
| pl | plamisto-grudkowa mastocytoza skórna | Pokrzywka barwnikowa |
| cs | Makulopapulární kožní mastocytóza | = en |
| uk | Макулопапульозний шкірний мастоцитоз | Пігментна кропивянка |
| zh | 色素性荨麻疹 | 色素性荨麻疹 |
| tr | Makülopapüler kutanöz mastositoz | Ürtiker pigmentosa |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154800 | NTBT | validated | |
| ICD-10 | Q82.2 | NTBT | inclusion | validated |
| ICD-11 | 2A21.10 | E | specific | validated |
| MONDO | 0019316 | E | validated | |
| MeSH | D014582 | E | validated | |
| UMLS | C0042111 | E | validated | |
| MedDRA | 10046752 | 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 · 4 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:90389Telangiectasia macularis eruptiva perstans | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | |
| KIT | ORPHA:158766Typical urticaria pigmentosa | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 11505412[PMID] |
| KIT | ORPHA:158769Plaque-form urticaria pigmentosa | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 11505412[PMID] |
| KIT | ORPHA:158772Nodular urticaria pigmentosa | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 11505412[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET_25662299[PMID] |
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
21 annotations · validated 2021-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025081 | Darier's sign | |
| HP:0011354 | Generalized abnormality of skin | |
| Frequent (79-30%) | ||
| HP:0010783 | Erythema | |
| HP:0012733 | Macule | |
| HP:0000989 | Pruritus | |
| HP:0025507 | Yellow papule | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0020172 | Adverse drug response | |
| HP:0002653 | Bone pain | |
| HP:0011971 | Dermatographic urticaria | |
| HP:0002014 | Diarrhea | |
| HP:0001945 | Fever | |
| HP:0031284 | Flushing | |
| HP:0002315 | Headache | |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration | |
| HP:0000737 | Irritability | |
| HP:0002018 | Nausea | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0100845 | Anaphylactic shock | |
| HP:0002094 | Dyspnea | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34335590[PMID]_33393144[PMID]_33068315[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79457
- This record as JSON: /data/d/79457.json