{"orpha":3165,"name":"Eosinophilic fasciitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse fasciitis with eosinophilia","Shulman syndrome"],"definition":"A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3165/","orphanet_url":"https://www.orpha.net/en/disease/detail/3165","names":{"fr":{"name":"Fasciite à éosinophiles","synonyms":["Fasciite diffuse avec éosinophilie","Syndrome de Shulman"],"definition":"La fasciite à éosinophiles est une maladie rare du tissu conjonctif qui se caractérise par une inflammation et un épaississement des fascias, généralement associée à une éosinophilie périphérique. Elle se manifeste au cours de l'âge adulte par un oedème symétrique et douloureux principalement des extrémités, qui s'indure progressivement. Une fatigue, une fibrose cutanée invalidante, une myosite et une arthrite peuvent aussi être observées."},"de":{"name":"Fasziitis, eosinophile","synonyms":["Shulman-Syndrom"],"definition":"Eine seltene idiopathische entzündliche Myopathie, die durch eine Entzündung und Verdickung der Faszien gekennzeichnet ist und in der Regel mit einer peripheren Eosinophilie einhergeht. Die Krankheit beginnt im Erwachsenenalter mit symmetrischer schmerzhafter Schwellung vor allem der Extremitäten, die zunehmend verhärten. Erschöpfung, beeinträchtigende Hautfibrose, Myositis und Arthritis sind weitere Symptome."},"es":{"name":"Fascitis eosinofílica","synonyms":["Fascitis difusa con eosinofilia","Síndrome de Shulman"],"definition":"Es una miopatía inflamatoria idiopática poco frecuente que se caracteriza por la inflamación y engrosamiento de la fascia, normalmente asociado con eosinofilia periférica. Se presenta durante la edad adulta con hinchazón simétrica y dolorosa, principalmente de las extremidades que progresivamente se endurecen. También puede observarse fatiga, fibrosis cutánea incapacitante, miositis y artritis."},"it":{"name":"Fascite eosinofila","synonyms":["Fascite diffusa con eosinofilia","Sindrome di Shulman"],"definition":"La fascite eosinofila è una connettive rara caratterizzata da infiammazione e ispessimento delle fasce, di solito associati a eosinofilia periferica. Esordisce nell'età adulta con un rigonfiamento doloroso e simmetrico, per lo più a livello degli arti, che si indurisce progressivamente. Si può associare ad affaticamento, fibrosi cutanea invalidante, miosite e artrite."},"nl":{"name":"Eosinofiele fasciitis","synonyms":["Diffuse fasciitis met eosinofilie","Shulmansyndroom"],"definition":"Een zeldzame idiopathische inflammatoire myopathie, gekarakteriseerd door inflammatie en verdikking van fascie, meestal geassocieerd met perifere eosinofilie. De ziekte manifesteert zich tijdens de volwassenheid met symmetrische en pijnlijke zwelling van vooral ledematen die progressief hard en taai worden. Vermoeidheid, invaliderende cutane fibrose, myositis en artritis kunnen ook waargenomen worden."},"pt":{"name":"Fasceíte eosinofílica","synonyms":["Síndrome Shulman"]},"pl":{"name":"Eozynofilowe zapalenie powięzi","synonyms":["Rozlane zapalenie powięzi z eozynofilią","Zespół Shulmana"]},"cs":{"name":"Eozinofilní fasciitida","synonyms":["Difuzní fasciitida s eozinofilií","Shulmanův syndrom"]},"uk":{"name":"Еозинофільний фасциїт","synonyms":["Дифузний фасцит з еозинофілією","Синдром Шульмана"],"definition":"A rare idiopathic inflammatory myopathy that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed."},"zh":{"name":"嗜酸细胞性筋膜炎","synonyms":["弥漫性筋膜炎伴嗜酸粒细胞增多"]},"tr":{"name":"Eozinofilik fasiit","synonyms":["Shulman sendromu","Eozinofili ile yaygın fasiit"]}},"xrefs":[{"source":"OMIM","code":"226350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A43.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1977389237"},{"source":"MONDO","code":"0009175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0264005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014954","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]},{"orpha":90077,"name":"Other acquired skin disease","classifications":[187]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"France","status":"Validated","source":"29526049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001879","label":"Abnormality of eosinophils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100748","label":"Muscular edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100537","label":"Fasciitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}