{"orpha":280785,"name":"Bullous diffuse cutaneous mastocytosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bullous DCM"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280785/","orphanet_url":"https://www.orpha.net/en/disease/detail/280785","names":{"fr":{"name":"Mastocytose cutanée diffuse bulleuse","synonyms":["DCM bulleuse"],"definition":"Forme de mastocytose cutanée diffuse (DCM) caractérisée par une érythrodermie généralisée et une formation importante de cloques associées à une accumulation de mastocytes dans la peau."},"de":{"name":"Mastozytose, bullöse diffuse kutane","synonyms":["DCM, bullöse"]},"es":{"name":"Mastocitosis cutánea difusa ampollosa","synonyms":["MCD ampollosa"],"definition":"La mastocitosis cutánea difusa ampollosa (MCDA) es una forma de mastocitosis cutánea difusa (MCD) caracterizada por eritrodermia generalizada y ampollas graves asociadas al acúmulo de mastocitos en la piel."},"it":{"name":"Mastocitosi cutanea diffusa bollosa","synonyms":["DCM bollosa"]},"nl":{"name":"Bulleuze diffuse cutane mastocytose","synonyms":["Bulleuze DCM"],"definition":"Bulleuze diffuse cutane mastocytose (DCM) is een vorm van diffuse cutane mastocytose (DCM; zie deze term) die wordt gekarakteriseerd door gegeneraliseerde erytrodermie en ernstige blaarvorming geassocieerd met de accumulatie van mestcellen in de huid."},"pt":{"name":"Mastocitose cutânea difusa bolhosa","synonyms":["DCM bolhosa"]},"pl":{"name":"Pęcherzowa rozlana mastocytoza skórna","synonyms":["Pęcherzowa DCM"]},"cs":{"name":"Bulózní difuzní kožní mastocytóza","synonyms":["Bulózní DCM"]},"uk":{"name":"Бульозний дифузний шкірний мастоцитоз","synonyms":["Бульозний DCM"],"definition":"Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin."},"zh":{"name":"大疱性弥漫性皮肤肥大细胞增多症","synonyms":["Bullous型DCM"],"definition":"大疱性弥漫性皮肤肥大细胞增生症（BDCM）是一种弥漫性皮肤肥大细胞增生症（DCM；见本术语）的一种，其特征是全身性剥脱性皮炎和严重起疱，与肥大细胞在皮肤聚集有关。"},"tr":{"name":"Büllöz yaygın kutanöz mastositoz","synonyms":["Bülloz DCM"]}},"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":"227748867"},{"source":"MONDO","code":"0017243","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5546764","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79456,"name":"Diffuse 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":"15173254[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200151","label":"Cutaneous mastocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005587","label":"Profuse pigmented skin lesions","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006543","label":"Cardiorespiratory arrest","frequency":"Occasional (29-5%)","criteria":null}]}}