{"orpha":280794,"name":"Pseudoxanthomatous diffuse cutaneous mastocytosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infiltrative small vesicular DCM","Infiltrative small vesicular diffuse cutaneous mastocytosis","Pseudoxanthomatous DCM"],"definition":"Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280794/","orphanet_url":"https://www.orpha.net/en/disease/detail/280794","names":{"fr":{"name":"Mastocytose cutanée diffuse pseudoxanthomateuse","definition":"Forme rare de mastocytose cutanée diffuse (DCM) caractérisée par des lésions jaune-orange, infiltrées et de type xanthogranulome, et une formation limitée de cloques."},"de":{"name":"Kutane Mastozytose, diffuse pseudoxanthomatöse","synonyms":["DCM, pseudoxanthomatöse"]},"es":{"name":"Mastocitosis cutánea difusa pseudoxantomatosa","synonyms":["MCD pseudoxantomatosa","Mastocitosis cutánea difusa infiltrativa vesicular pequeña","MCD infiltrativa vesicular pequeña"],"definition":"La mastocitosis cutánea difusa pseudoxantomatosa (MCDP) es una forma poco frecuente de mastocitosis cutánea difusa caracterizada por lesiones infiltradas de color amarillo anaranjado y similares a xantogranulomas con formación de ampollas limitadas."},"it":{"name":"Mastocitosi cutanea diffusa pseudoxantomatosa","synonyms":["DCM infiltrativa a piccole vescicole","DCM pseudoxantomatosa","Mastocitosi cutena diffusa infiltrativa a piccole vescicole"]},"nl":{"name":"Pseudoxanthomateuze diffuse cutane mastocytose","synonyms":["Infiltratieve kleine vesiculaire DCM","Infiltratieve kleine vesiculaire diffuse cutane mastocytose","Pseudoxanthomateuze DCM"],"definition":"Pseudoxanthomateuze diffuse cutane mastocytose (PDCM) is een zeldzame vorm van diffuse cutane mastocytose (DCM; zie deze term) die wordt gekarakteriseerd door geel-oranje, geïnfiltreerde en xanthogranuloom-achtige letsels met enkel beperkte blaarvorming."},"pt":{"name":"Mastocitose cutânea difusa pseudoxantomatosa","synonyms":["DCM pseudoxantomatosa"]},"pl":{"name":"Pseudożółtakowata rozlana mastocytoza skórna","synonyms":["DCM naciekająca dotycząca drobnych naczyń","Mastozytoza skórna rozsiana z naciekaniem drobnych naczyń","Pseudożółtakowa DCM"]},"cs":{"name":"Pseudoxantomatózní difuzní kožní mastocytóza","synonyms":["Infiltrativní vezikulární DCM s malými vezikuly","Infiltrativní difuzní kožní mastocytóza s malými vezikuly","Pseudoxantomatózní DCM"]},"uk":{"name":"Псевдоксантоматозний дифузний шкірний мастоцитоз","synonyms":["Інфільтративна дрібнопухирчаста DCM","Інфільтративний дрібнопухирчастий дифузний шкірний мастоцитоз","Псевдоксантоматозний DCM"],"definition":"Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering."},"zh":{"name":"Pseudoxanthomatous diffuse cutaneous mastocytosis","synonyms":["浸润性小水泡型弥漫性皮肤肥大细胞增生症"],"definition":"假黄瘤性弥漫性皮肤肥大细胞增多症（PDCM）是一种罕见的弥漫性皮肤肥大细胞增多症（DCM；见本术语），其特征是橙黄色浸润和黄色肉芽肿样病变，仅有少量水疱。"},"tr":{"name":"Psödoksantoma diffüz kutanöz mastositoz","synonyms":["Psödoksantoma DCM","İnfiltratif küçük veziküler DCM","İnfiltratif küçük veziküler yaygın kutanöz mastositoz"]}},"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":"1549543493"},{"source":"MONDO","code":"0017244","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679949","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":10.0,"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}]}}