ORPHA:79455

Cutaneous mastocytoma

Synonyms: Cutaneous local mastocytoma · Multiple mastocytoma · Solitary mastocytoma

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: All ages
Status: active

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cutaneous mastocytoma	Cutaneous local mastocytoma · Multiple mastocytoma · Solitary mastocytoma
fr	Mastocytome cutané	Mastocytome multiple · Mastocytome solitaire
de	Mastozytom, kutanes	Mastozytom, multiples · Mastozytom, solitäres
es	Mastocitoma cutáneo	Mastocitoma cutáneo local · Mastocitoma múltiple · Mastocitoma solitario
it	Mastocitoma cutaneo	Mastocitoma cutaneo localizzato · Mastocitoma multiplo · Mastocitoma solitario
nl	Cutaan mastocytoom	Cutaan lokaal mastocytoom · Meervoudig mastocytoom · Solitair mastocytoom
pt	Mastocitoma cutâneo
pl	Mastocytoma skórna	Mnogie guzy z komórek tucznych · Pojedyńczy guz z komórek tucznych · Zlokalizowana mastocytoma skórna
cs	Kožní mastocytom	Lokální kožní mastocytom · Solitární mastocytom · Mnohočetný mastocytom
uk	Шкірна мастоцитома	Шкірна локальна мастоцитома · Множинна мастоцитома · Солітарна мастоцитома
zh	皮肤肥大细胞瘤	皮肤局部肥大细胞瘤
tr	Kutanöz mastositoma	Çoklu mastositom · Soliter mastositom · Kutanöz lokal mastositom

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	0019314	E		validated
MeSH	D054705	E		validated
UMLS	C0343115	E		validated
GARD	12687	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):

ORPHA:89826Rare skin disease

Parents in the classifications (1):

ORPHA:66646Cutaneous 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	18795925[PMID]_19865100[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet 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
Frequent (79-30%)
HP:0002014	Diarrhea
HP:0030350	Erythematous papule
HP:0001034	Hypermelanotic macule
HP:0025473	Hyperpigmented papule
HP:0012733	Macule
HP:0040186	Maculopapular exanthema
HP:0025533	Peau d'orange
HP:0000989	Pruritus
HP:0200036	Skin nodule
HP:0200035	Skin plaque
Occasional (29-5%)
HP:0002027	Abdominal pain
HP:0008066	Abnormal blistering of the skin
HP:0002094	Dyspnea
HP:0010783	Erythema
HP:0031284	Flushing
HP:0002315	Headache
HP:0000953	Hyperpigmentation of the skin
HP:0002615	Hypotension
HP:0031901	Increased serum mast cell beta-tryptase concentration
HP:0002018	Nausea
HP:0040189	Scaling skin
HP:0200041	Skin erosion
HP:0100585	Telangiectasia of the skin
HP:0001072	Thickened skin
HP:0002013	Vomiting
Very rare (<4-1%)
HP:0100845	Anaphylactic shock
HP:0100665	Angioedema
HP:0011971	Dermatographic urticaria
HP:0007583	Telangiectasia macularis eruptiva perstans
Excluded (0%)
HP:0002716	Lymphadenopathy

Run the differential on the 1 obligate / very frequent terms

Annotation source: 30855840[PMID]_33040350[PMID]_30465511[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79455
This record as JSON: /data/d/79455.json