{"orpha":66646,"name":"Cutaneous mastocytosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66646/","orphanet_url":"https://www.orpha.net/en/disease/detail/66646","names":{"fr":{"name":"Mastocytose cutanée","definition":"Groupe rare de mastocytoses caractérisé par une accumulation et une prolifération anormales de mastocytes dans la peau et comprenant trois formes reconnues : la mastocytose cutanée diffuse, le mastocytome cutané ainsi que la forme la plus courante, la mastocytose cutanée maculopapulaire. Dans certains cas (le plus souvent chez les adultes), la mastocytose cutanée peut s'accompagner d'une infiltration de plusieurs organes extracutanés par des mastocytes, et dans ce cas, la pathologie est définie comme une mastocytose systémique."},"de":{"name":"Mastozytose, kutane"},"es":{"name":"Mastocitosis cutánea","definition":"Es un grupo poco frecuente de mastocitosis caracterizado por el acúmulo y proliferación anómala de mastocitos en la piel e incluye las tres formas reconocidas: mastocitosis cutánea difusa, mastocitoma cutáneo y, la forma más común, mastocitosis cutánea maculopapular. En algunos casos (más comúnmente en adultos), la mastocitosis cutánea puede ocurrir en asociación con la infiltración de mastocitos de varios órganos extracutáneos, en cuyo caso el trastorno se denomina mastocitosis sistémica."},"it":{"name":"Mastocitosi cutanea"},"nl":{"name":"Cutane mastocytose","definition":"Een zeldzame groep van mastocytoses gekarakteriseerd door een abnormale accumulatie en proliferatie van mestcellen in huid, en bestaande uit drie herkenbare vormen: diffuse cutane mastocytose, cutaan mastocytoom en, de meest voorkomende vorm, maculopapulaire cutane mastocytose. In sommige gevallen (voornamelijk bij volwassenen) kan cutane mastocytose voorkomen in associatie met infiltratie van verscheidene extra-cutane organen door mestcellen; in dit geval wordt naar de aandoening verwezen als systemische mastocytose."},"pt":{"name":"Mastocitose cutânea"},"pl":{"name":"Mastocytoza skórna"},"cs":{"name":"Kožní mastocytóza"},"uk":{"name":"Шкірний мастоцитоз","definition":"A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis."},"zh":{"name":"皮肤肥大细胞增生病"},"tr":{"name":"Kutanöz mastositoz"}},"xrefs":[{"source":"ICD-11","code":"2A21.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1300710062"},{"source":"MONDO","code":"0019023","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19023","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D034701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1136033","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7842","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98292,"name":"Mastocytosis","classifications":[194,202]},{"orpha":90077,"name":"Other acquired skin disease","classifications":[187]}],"children":[{"orpha":79455,"name":"Cutaneous mastocytoma","type":"Disease"},{"orpha":79456,"name":"Diffuse cutaneous mastocytosis","type":"Disease"},{"orpha":79457,"name":"Maculopapular cutaneous mastocytosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}