{"orpha":158019,"name":"Indeterminate cell histiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Indeterminate dendritic cell neoplasm","Indeterminate dendritic cell tumor"],"definition":"A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158019/","orphanet_url":"https://www.orpha.net/en/disease/detail/158019","names":{"fr":{"name":"Histiocytose à cellule indeterminée","definition":"Maladie néoplasique rare caractérisée par des papulonodules multiples, et parfois isolés, asymptomatiques, lisses, de couleur rouge-brun, situés sur le visage, le cou, le tronc et/ou les extrémités, présentant un infiltrat histiocytaire non épidermotrope avec des caractéristiques immunohistochimiques de cellules de Langerhans et de cellules non langerhansiennes (c'est-à-dire immunopositives pour les protéines S100 et CD1a en l'absence de granules de Birbeck et d'expression de la langerine)."},"de":{"name":"Histiozytose der indeterminierten Zelle","synonyms":["Indeterminante dendritische Zellneubildung","Indeterminanter dendritischer Zelltumor"]},"es":{"name":"Histiocitosis de células indeterminadas","synonyms":["Neoplasia indeterminada de células dendríticas","Tumor indeterminado de células dendríticas"],"definition":"Es una enfermedad neoplásica poco frecuente caracterizada por papulonódulos múltiples y, ocasionalmente, únicos, asintomáticos, lisos, de color marrón-rojizo, localizados en la cara, cuello, tronco y/o extremidades, y que presentan un infiltrado histiocítico no epidermotrófico con características inmunohistoquímicas tanto de células de Langerhans como de células no Langerhans (es decir, inmunopositivas para la proteína S100 y CD1a en ausencia de gránulos de Birbeck y de expresión de langerina)."},"it":{"name":"Istiocitosi a cellule indeterminate","definition":"L'istiocitosi a cellule indeterminate è una neoplasia rara caratterizzata da lesioni papulo-nodulari multiple (raramente singole) asintomatiche, lisce, di colore rosso-bruno, localizzate sul viso, sul collo, sul tronco e/o sugli arti, che presentano un infiltrato istiocitario non epidermotrofico, con caratteristiche immunoistochimiche proprie sia delle cellule di Langerhans che di quelle non-Langerhans (ovvero immunopositive per la proteina S100 e CD1a, senza granuli di Birbeck e che non esprimono la langerina)."},"nl":{"name":"Onbepaalde celhistiocytose","synonyms":["Onbepaald dendritische cel neoplasma","Onbepaalde dendritische celtumor"],"definition":"Een zeldzame, neoplastische ziekte, gekarakteriseerd door meervoudige, en soms enkelvoudige, asymptomatische, gladde, rood-bruine papulonoduli op aangezicht, hals/nek, romp en/of ledematen die zich presenteren met een niet-epidermotrofisch histiocytisch infiltraat met immuunhistochemische kenmerken van zowel Langerhans- als niet-Langerhanscellen (i.e. immuunpositief voor S100 proteïne en CD1a in afwezigheid van Birbeck granulen en expressie van langerine)."},"pt":{"name":"Histiocitose de células não-determinadas"},"pl":{"name":"Histiocytoza z komórek nieokreślonych","synonyms":["Indeterminate dendritic cell neoplasm","Indeterminate dendritic cell tumor"]},"cs":{"name":"Histiocytóza z neurčených buněk","synonyms":["Indeterminate dendritic cell neoplasm","Indeterminate dendritic cell tumor"]},"uk":{"name":"Невизначений гістіоцитоз клітин","synonyms":["Невизначене новоутворення дендритних клітин","Невизначена дендритноклітинна пухлина"],"definition":"A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression)."},"zh":{"name":"不确定细胞组织细胞增多症","synonyms":["不明原因树突状细胞瘤"],"definition":"一种罕见的肿瘤性疾病，特征是面部、颈部、躯干和/或四肢有多个，有时是单个的，无症状光滑红棕色丘疹结节，表现为一种非表皮营养性组织细胞浸润，且具有朗格汉斯细胞和非朗格汉斯细胞的免疫组织化学特征(即在Birbeck颗粒和Langerin蛋白表达缺失的情况下，S100蛋白和CD1a免疫阳性)。"},"tr":{"name":"Belirsiz hücreli histiyositoz","synonyms":["Belirsiz dendritik hücre tümörü","Belirsiz dendritik hücreli neoplazm"]}},"xrefs":[{"source":"ICD-10","code":"C96.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B31.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"583219258"},{"source":"MONDO","code":"0015538","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2825741","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98289,"name":"Dendritic cell tumor","classifications":[194,202,233]},{"orpha":157987,"name":"Non-Langerhans cell histiocytosis","classifications":[187,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}