{"orpha":477742,"name":"Nodular fasciitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudosarcomatous fasciitis","Pseudosarcomatous fibromatosis"],"definition":"A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477742/","orphanet_url":"https://www.orpha.net/en/disease/detail/477742","names":{"fr":{"name":"Fasciite nodulaire","synonyms":["Fasciite pseudo-sarcomateuse","Fibromatose pseudosarcomateuse"],"definition":"Tumeur rare des tissus mous caractérisée par une prolifération fibreuse solitaire formant une masse qui se développe généralement dans le tissu sous-cutané, composée de cellules fibroblastiques/myofibroblastiques uniformes présentant un schéma de croissance lâche. Les membres supérieurs, le tronc, la tête et le cou sont les plus fréquemment touchés. De manière générale, la lésion se développe rapidement et mesure presque toujours moins de cinq centimètres de diamètre. Macroscopiquement, elle peut apparaître circonscrite ou infiltrée, mais n'est pas encapsulée. La récidive après une excision est très rare, et il n'y a pas de présence de métastases."},"de":{"name":"Noduläre Fasziitis","synonyms":["Fibromatose, pseudosarkomatöse","Pseudosarkomatöse Fasziitis"],"definition":"Ein seltener Weichteiltumor, der durch eine solitäre, faserige Gewebeverdichtung gekennzeichnet ist, die gewöhnlich im Unterhautgewebe auftritt und aus einheitlichen fibroblastischen/myofibroblastischen Zellen besteht, die ein lockeres Wachstumsmuster aufweisen. Am häufigsten sind die oberen Extremitäten, der Rumpf sowie Kopf und Hals betroffen. Die Läsion wächst typischerweise schnell und misst fast immer weniger als fünf Zentimeter im Durchmesser. Makroskopisch kann sie umschrieben oder infiltrativ erscheinen, ist aber nicht abgekapselt. Ein Rezidiv nach der Exzision ist sehr selten, und Metastasen treten nicht auf."},"es":{"name":"Fascitis nodular","synonyms":["Fascitis pseudosarcomatosa","Fibromatosis pseudosarcomatosa"],"definition":"Es un tumor de partes blandas poco frecuente caracterizado por una masa única (o solitaria) fibrosa , que se desarrolla habitualmente en el tejido subcutáneo, compuesto por células fibroblásticas/miofibroblásticas uniformes que muestran un patrón de crecimiento laxo. Afecta mayoritariamente a las extremidades superiores, al tronco, la cabeza y la región cervical. La lesión suele ser de rápido crecimiento y en la mayoría de los casos mide menos de cinco centímetros de diámetro. Macroscópicamente, puede aparecer circunscrito o infiltrante, pero no encapsulado. La recidiva después de la escisión es muy infrecuente y no metastatiza."},"it":{"name":"Fascite nodulare","definition":"Si tratta di un tumore raro dei tessuti molli, caratterizzato da una proliferazione fibrosa solitaria con formazione di una massa, di solito localizzata nel tessuto sottocutaneo, composta da cellule fibroblastiche/miofibroblastiche uniformi a crescita libera. Sono maggiormente interessati gli arti superiori, il tronco, la testa e il collo. La lesione in genere cresce rapidamente e misura quasi sempre meno di cinque centimetri di diametro. Dal punto di vista macroscopico, il tumore può essere circoscritto o infiltrativo, ma non è incapsulato. Le recidive dopo l'escissione sono molto rare. Non si associa a metastasi."},"nl":{"name":"Nodulaire fasciitis","synonyms":["Pseudosarcomateuze fasciitis","Pseudosarcomateuze fibromatose"],"definition":"Een zeldzame tumor van weke delen, gekarakteriseerd door een solitaire massavormende fibreuze proliferatie die meestal voorkomt in onderhuids weefsel, bestaande uit uniforme fibroblastische/myofibroblastische cellen met een los groeipatroon. Bovenste ledematen, romp, hoofd en nek worden het vaakst aangetast. De laesie groeit doorgaans snel en heeft nagenoeg altijd een diameter kleiner dan vijf centimeter. Macroscopisch kan het begrensd of infiltratief lijken, maar het is niet ingekapseld. Terugkeer na excisie is zeer zeldzaam, en metastase komt niet voor."},"pt":{"name":"Fascite nodular"},"pl":{"name":"Guzkowe zapalenie powięzi","synonyms":["Pseudosarcomatous fasciitis","Pseudosarcomatous fibromatosis"]},"cs":{"name":"Nodulární fascitida","synonyms":["Pseudosarcomatous fasciitis","Pseudosarcomatous fibromatosis"]},"uk":{"name":"Вузликовий фасціїт","synonyms":["Псевдосаркоматозний фасціїт","Псевдосаркоматозний фіброматоз"],"definition":"A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur."},"zh":{"name":"增生性筋膜炎","synonyms":["假肉瘤性纤维瘤病"],"definition":"一种罕见的软组织肿瘤，其特点是通常发生在皮下组织的单发团状纤维增生，由均匀的成纤维细胞/肌纤维细胞组成，表现为松散的生长方式。上肢、躯干、头颈部最常受累。病变通常生长迅速，直径几乎总是小于5厘米。宏观上看，可呈环状或浸润，但没有包膜。切除后复发非常罕见，不会发生转移。"},"tr":{"name":"Nodüler fasiit","synonyms":["Psödosarkomatöz fasiit","Psödosarkomatöz fibromatoz"]}},"xrefs":[{"source":"ICD-10","code":"M79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB51.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"789101380"},{"source":"MONDO","code":"0004187","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065988","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"MYH9","name":"myosin heavy chain 9","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21826056[PMID]","hgnc":"7579","ensembl":"ENSG00000100345","omim":"160775","loci":["22q12.3"]},{"symbol":"USP6","name":"ubiquitin specific peptidase 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21826056[PMID]","hgnc":"12629","ensembl":"ENSG00000129204","omim":"604334","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}