{"orpha":86884,"name":"Subcutaneous panniculitis-like T-cell lymphoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPTCL","Subcutaneous panniculitic T-cell lymphoma"],"definition":"A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86884/","orphanet_url":"https://www.orpha.net/en/disease/detail/86884","names":{"fr":{"name":"Lymphome T sous-cutané type panniculite","synonyms":["SPTCL"],"definition":"Lymphome T alpha-bêta cutané cytotoxique rare caractérisé par des plaques et des nodules sous-cutanés érythémateux solitaires ou multiples, généralisés ou se limitant aux extrémités inférieures. Il s'agit d'un sous-ensemble distinct de lymphomes périphériques à cellules T prenant naissance et se manifestant principalement dans le tissu adipeux sous-cutané, souvent associés à une lymphohistiocytose hémophagocytaire."},"de":{"name":"T-Zell-Lymphom, subkutanes Pannikulitis-ähnliches","synonyms":["SPTCL","Subkutanes Pannikulitis-artiges T-Zell-Lymphom","T-Zell-Lymphom, pannikulitisches subkutanes"],"definition":"Ein seltenes zytotoxisches kutanes Alpha-Beta-T-Zell-Lymphom, das durch einzelne oder multiple erythematöse subkutane Knötchen und Plaques gekennzeichnet ist, die lokal begrenzt an den unteren Extremitäten oder generalisiert auftreten können. Es wurde als eigenständige Untergruppe der peripheren T-Zell-Lymphome erkannt, die primär im subkutanen Fettgewebe entstehen und auftreten und häufig mit einer hämophagozytischen Lymphohistiozytose assoziiert sind."},"es":{"name":"Linfoma subcutáneo de células T similar a paniculitis","synonyms":["Linfoma de células T subcutáneo paniculítico","Linfoma subcutáneo de células T paniculitis-like","SPTCL"],"definition":"Es un linfoma cutáneo de células T citotóxicas alfa-beta poco frecuente caracterizado por placas y nódulos subcutáneos eritematosos, únicos o múltiples, que pueden localizarse en las extremidades inferiores o de forma generalizada. Se ha reconocido como un subconjunto distinto de linfomas periféricos de células T que se originan y se presentan principalmente en el tejido adiposo subcutáneo y que a menudo se asocian con linfohistiocitosis hemofagocítica."},"it":{"name":"Linfoma sottocutaneo simil-panniculitico a cellule T","synonyms":["Linfoma panniculitico sottocutaneo a cellule T","SPTCL"]},"nl":{"name":"Subcutaan panniculitis-achtig T-cellymfoom","synonyms":["SPTCL","Subcutaan panniculitisachtig T-cellymfoom"],"definition":"Een zeldzaam cytotoxisch cutaan alfa-bèta-T-cellymfoom, gekenmerkt door solitaire of multipele erythemateuze subcutane noduli en plaques die kunnen gelokaliseerd zijn op de onderste extremiteiten of gegeneraliseerd kunnen voorkomen. De aandoening wordt erkend als een aparte subgroep van perifere T-cellymfomen die ontstaan en vooral voorkomen in onderhuids vetweefsel en vaak geassocieerd zijn met hemofagocytaire lymfohistiocytose."},"pt":{"name":"Linfoma de células T, paniculite subcutânea-like","definition":"Linfoma de células T alfa-beta cutâneo citotóxico raro caracterizado por nódulos e placas subcutâneas eritematosas solitárias ou múltiplas que podem ser localizadas nas extremidades inferiores ou generalizadas. Foi reconhecido como um subconjunto distinto de linfomas de células T periféricos originados e apresentados principalmente no tecido adiposo subcutâneo e frequentemente associados à linfohistiocitose hemofagocítica."},"pl":{"name":"Podskórny chłoniak T-komórkowy przypominający zapalenie tkanki podskórnej","synonyms":["SPTCL"]},"cs":{"name":"Subkutánní T-buněčný lymfom podobný panikulitidě","synonyms":["SPTCL","Subkutánní panikulitický T-buněčný lymfom"]},"uk":{"name":"Підшкірна паннікулітоподібна Т-клітинна лімфома","synonyms":["SPTCL","Підшкірна паннікулітна Т-клітинна лімфома"],"definition":"A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis."},"zh":{"name":"皮下脂膜炎样T细胞淋巴瘤","synonyms":["皮下脂膜炎性T-细胞淋巴瘤"]},"tr":{"name":"Deri altı pannikülit benzeri T-hücreli lenfoma","synonyms":["SPTCL","Deri altı panikülitik T hücreli lenfoma"]}},"xrefs":[{"source":"OMIM","code":"618398","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C86.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2B00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1550338805"},{"source":"MONDO","code":"0019475","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537503","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0522624","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10193","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":178548,"name":"Indolent primary cutaneous T-cell lymphoma","classifications":[187,194,202,233]}],"children":[],"genes":[{"symbol":"HAVCR2","name":"hepatitis A virus cellular receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30374066[PMID]","hgnc":"18437","ensembl":"ENSG00000135077","omim":"606652","loci":["5q33.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-24","source":"30374066[PMID]_22829967[PMID]","terms":[{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}