{"orpha":79455,"name":"Cutaneous mastocytoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cutaneous local mastocytoma","Multiple mastocytoma","Solitary mastocytoma"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79455/","orphanet_url":"https://www.orpha.net/en/disease/detail/79455","names":{"fr":{"name":"Mastocytome cutané","synonyms":["Mastocytome multiple","Mastocytome solitaire"],"definition":"Forme de mastocytose cutanée (MC) généralement caractérisée par la présence de macules, plaques ou nodules hyperpigmentés solitaires ou multiples, associés à une accumulation anormale de mastocytes dans la peau."},"de":{"name":"Mastozytom, kutanes","synonyms":["Mastozytom, multiples","Mastozytom, solitäres"]},"es":{"name":"Mastocitoma cutáneo","synonyms":["Mastocitoma cutáneo local","Mastocitoma múltiple","Mastocitoma solitario"],"definition":"Es una forma de mastocitosis cutánea (MC) generalmente caracterizada por la presencia de máculas, placas o nódulos hiperpigmentados solitarios o múltiples asociados con un acúmulo anómalo de mastocitos en la piel."},"it":{"name":"Mastocitoma cutaneo","synonyms":["Mastocitoma cutaneo localizzato","Mastocitoma multiplo","Mastocitoma solitario"]},"nl":{"name":"Cutaan mastocytoom","synonyms":["Cutaan lokaal mastocytoom","Meervoudig mastocytoom","Solitair mastocytoom"],"definition":"Cutaan mastocytoom is een vorm van cutane mastocytose (CM; zie deze term) die over het algemeen wordt gekarakteriseerd door de aanwezigheid van één enkele of meerdere hypergepigmenteerde maculae, plaques of noduli geassocieerd met abnormale accumulatie van mestcellen in de huid."},"pt":{"name":"Mastocitoma cutâneo"},"pl":{"name":"Mastocytoma skórna","synonyms":["Mnogie guzy z komórek tucznych","Pojedyńczy guz z komórek tucznych","Zlokalizowana mastocytoma skórna"]},"cs":{"name":"Kožní mastocytom","synonyms":["Lokální kožní mastocytom","Solitární mastocytom","Mnohočetný mastocytom"]},"uk":{"name":"Шкірна мастоцитома","synonyms":["Шкірна локальна мастоцитома","Множинна мастоцитома","Солітарна мастоцитома"],"definition":"Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) 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."},"zh":{"name":"皮肤肥大细胞瘤","synonyms":["皮肤局部肥大细胞瘤"]},"tr":{"name":"Kutanöz mastositoma","synonyms":["Çoklu mastositom","Soliter mastositom","Kutanöz lokal mastositom"]}},"xrefs":[{"source":"ICD-10","code":"Q82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1853236564"},{"source":"MONDO","code":"0019314","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343115","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12687","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":66646,"name":"Cutaneous mastocytosis","classifications":[187,194,202]}],"children":[],"genes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18795925[PMID]_19865100[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-22","source":"30855840[PMID]_33040350[PMID]_30465511[PMID]","terms":[{"hpo":"HP:0025081","label":"Darier's sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025473","label":"Hyperpigmented papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025533","label":"Peau d'orange","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100845","label":"Anaphylactic shock","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100665","label":"Angioedema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011971","label":"Dermatographic urticaria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007583","label":"Telangiectasia macularis eruptiva perstans","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Excluded (0%)","criteria":null}]}}