{"orpha":404507,"name":"Chondromyxoid fibroma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404507/","orphanet_url":"https://www.orpha.net/en/disease/detail/404507","names":{"fr":{"name":"Fibrome chondromyxoïde","definition":"Tumeur osseuse rare caractérisée par une lésion bénigne composée de lobules de cellules fusiformes ou stellaires et d'une matrice myxoïde ou chondroïde abondante. La tumeur peut se développer dans presque tous les os, mais elle est plus fréquente dans les os longs, en particulier le tibia proximal et le fémur distal. La douleur est le symptôme le plus fréquent. Même en cas de récidive locale, le pronostic reste excellent."},"de":{"name":"Chondromyxoidfibrom","definition":"Ein seltener Knochentumor, der durch eine gutartige Läsion gekennzeichnet ist, die aus Läppchen spindelförmiger oder sternförmiger Zellen und einer reichlich vorhandenen myxoiden oder chondroiden Matrix besteht. Der Tumor kann an fast jeder Stelle des Knochens auftreten, ist jedoch am häufigsten in den langen Knochen zu finden, insbesondere im proximalen Schienbein und im distalen Oberschenkelknochen. Schmerzen sind das häufigste Symptom. Die Prognose ist selbst in Fällen mit Lokalrezidiven ausgezeichnet."},"es":{"name":"Fibroma condromixoide","definition":"Es un tumor óseo poco frecuente caracterizado por una lesión benigna compuesta por lóbulos de células fusiformes o estrelladas con una abundante matriz mixoide o condroide. El tumor puede aparecer en casi cualquier localización ósea, siendo más frecuente en los huesos largos, en particular en la tibia proximal y el fémur distal. El dolor es el síntoma de presentación más frecuente. El pronóstico es excelente incluso en los casos de recurrencia local."},"it":{"name":"Fibroma condromixoide","definition":"Si tratta di un tumore osseo raro caratterizzato da una lesione benigna composta da lobuli di cellule fusiformi o stellate e da un'abbondante matrice mixoide o condroide. Il tumore può manifestarsi in qualsiasi regione ossea, ma è più comune nelle ossa lunghe, in particolare nella porzione prossimale della tibia e nella porzione distale del femore. Il dolore è il sintomo d'esordio più comune. La prognosi è eccellente, anche nei pazienti con recidive locali."},"nl":{"name":"Chondromyxoïd fibroom","definition":"Een zeldzame bottumor, gekarakteriseerd door een goedaardige laesie bestaande uit lobuli van spoelvormige of stervormige cellen en een overvloedige myxoïde of chondroïde matrix. De tumor kan voorkomen in nagenoeg elk bot, maar komt vooral voor in pijpbeenderen, vooral proximale tibia en distale femur. Pijn is het meest gangbare presenterende symptoom. De prognose is excellent, zelfs in geval van locale recidive."},"pt":{"name":"Fibroma condromixóide"},"pl":{"name":"Włókniak chrzęstno-śluzowaty"},"cs":{"name":"Chondromyxoidní fibrom"},"uk":{"name":"Хондроміксоїдна фіброма","definition":"A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence."},"zh":{"name":"软骨粘液样纤维瘤","definition":"一种罕见的骨肿瘤，其良性病灶主要由纺锤形或星状细胞的小叶和丰富的粘液样或软骨样基质组成。肿瘤可能发生在几乎所有骨骼，但最常见于长骨，特别是胫骨近端和股骨远端。疼痛是最常见的症状。即使局部复发，预后也很好。"},"tr":{"name":"Kondromiksoid fibroma"}},"xrefs":[{"source":"ICD-10","code":"D16.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E82.Z","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018447","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221290","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[{"symbol":"GRM1","name":"glutamate metabotropic receptor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24658000[PMID]","hgnc":"4593","ensembl":"ENSG00000152822","omim":"604473","loci":["6q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"24658000[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24658000[PMID]"}],"phenotypes":null}