{"orpha":300865,"name":"Primary cutaneous anaplastic large cell lymphoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary C-ALCL","Regressive atypical histiocytosis"],"definition":"Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300865/","orphanet_url":"https://www.orpha.net/en/disease/detail/300865","names":{"fr":{"name":"Lymphome cutané primitif anaplasique à grandes cellules","synonyms":["C-ALCL primaire","Histiocytose atypique régressive"],"definition":"Le lymphome cutané primitif anaplasique à grandes cellules (C-ALCL primaire) est un lymphome T non hodgkinien qui affecte la peau et ne présente généralement pas d'implication extra-cutanée. Il appartient au spectre des troubles lymphoprolifératifs cutanés CD30+ primitifs, tout comme la papulose lymphomatoïde avec laquelle il partage des caractéristiques cliniques et histopathologiques."},"de":{"name":"Primäres kutanes anaplastisches großzelliges Lymphom","synonyms":["C-ALCL","Primäres C-ALCL","Regressive atypische Histiozytose"]},"es":{"name":"Linfoma cutáneo primario anaplásico de células grandes","synonyms":["C-ALCL primario","Histiocitosis atípica regresiva"],"definition":"El linfoma cutáneo primario anaplásico de células grandes (C-ALCL) es un linfoma no-Hodgkin de células T, poco frecuente, que afecta a la piel, y que generalmente se inicia con afectación extracutánea. Pertenece al espectro de los trastornos linfoproliferativos cutáneos CD30+ junto con la papulosis linfomatoide (consulte este término) con la cual comparte manifestaciones clínicas y rasgos histopatológicos."},"it":{"name":"Linfoma anaplastico cutaneo primitivo a grandi cellule","synonyms":["C-ALCL primitivo","Istiocitosi atipica regressiva"],"definition":"Il linfoma anaplastico cutaneo primitivo a grandi cellule (C-ALCL) è un raro linfoma non-Hodgkin a cellule T, che interessa la cute e in genere non mostra un coinvolgimento extracutaneo all'esordio. Appartiene allo spettro delle malattie linfoproliferative CD30+ cutanee primitive, insieme alla papulosi linfomatoide (si veda questo termine), con la quale condivide i segni clinici ed istopatologici."},"nl":{"name":"Primair cutaan anaplastisch grootcellig lymfoom","synonyms":["Primair C-ALCL","Regressieve atypische histiocytose"],"definition":"Primair cutaan anaplastisch grootcellig lymfoom (C-ALCL) is een zeldzaam T-cel non-Hodgkinlymfoom dat de huid treft en doorgaans lijken er bij de manifestatie geen gebieden buiten de huid betrokken te zijn. De ziekte behoort tot het spectrum van primaire cutane CD30+ lymfoproliferatieve aandoeningen samen met lymfomatoïde papulose (zie deze term), waarmee het klinische en histopathologische overeenkomsten vertoont."},"pt":{"name":"Linfoma anaplásico de grandes células, cutâneo primário"},"pl":{"name":"Pierwotny skórny chłoniak anaplastyczny z dużych komórek","synonyms":["Histiocytoza regresywna atypowa","Primary C-ALCL"]},"cs":{"name":"Primární velkobuněčný anaplastický kožní lymfom","synonyms":["Primární C-ALCL","Regresivní atypická histiocytóza"]},"uk":{"name":"Первинна шкірна анапластична великоклітинна лімфома","synonyms":["Первинний C-ALCL","Регресивний атиповий гістіоцитоз"],"definition":"Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features."},"zh":{"name":"原发皮肤间变性大细胞淋巴瘤","synonyms":["隐性遗传非典型性组织细胞增生"],"definition":"原发性皮肤间变性大细胞淋巴瘤（C-ALCL）是一种罕见的T细胞非霍奇金淋巴瘤，累及皮肤，一般无皮肤外表现。它属于原发性皮肤性CD30+淋巴增生性疾病和淋巴瘤样丘疹病（见本术语）谱系，临床和组织病理学特征重叠。"},"tr":{"name":"Primer kutanöz anaplastik büyük hücreli lenfoma","synonyms":["Primer C-ALCL","Gerileyen atipik histiyositoz"]}},"xrefs":[{"source":"ICD-10","code":"C86.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2B03.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1972636482"},{"source":"MONDO","code":"0017598","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1301362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065863","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":541,"name":"Primary cutaneous CD30+ T-cell lymphoproliferative disease","classifications":[187,194,202,233]}],"children":[],"genes":[{"symbol":"NPM1","name":"nucleophosmin 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25349176[PMID]","hgnc":"7910","ensembl":"ENSG00000181163","omim":"164040","loci":["5q35.1"]},{"symbol":"TYK2","name":"tyrosine kinase 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25349176[PMID]","hgnc":"12440","ensembl":"ENSG00000105397","omim":"176941","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}