{"orpha":477650,"name":"Fibroblastic rheumatism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477650/","orphanet_url":"https://www.orpha.net/en/disease/detail/477650","names":{"fr":{"name":"Rhumatisme fibroblastique","definition":"Maladie rhumatologique rare caractérisée par l'apparition soudaine d'une polyarthrite inflammatoire distale symétrique et de multiples nodules cutanés fermes, avec une prédilection pour les membres supérieurs et inférieurs. Les patients développent souvent une sclérodactylie et des contractures articulaires. La biopsie cutanée révèle une prolifération fibroblastique dans une matrice de fibres de collagène épaissies, avec une perte de fibres élastiques et sans dépôt de mucine."},"de":{"name":"Rheumatismus, fibroblastischer","definition":"Eine seltene rheumatologische Erkrankung, die durch eine plötzlich auftretende symmetrische entzündliche distale Polyarthritis und multiple feste Hautknötchen mit bevorzugter Ausprägung an den oberen und unteren Extremitäten gekennzeichnet ist. Die Patienten entwickeln häufig Sklerodaktylie und Gelenkkontrakturen. Die Hautbiopsie zeigt eine fibroblastische Proliferation in einer Matrix aus verdickten Kollagenfasern, mit Verlust von elastischen Fasern und ohne Muzinablagerungen."},"es":{"name":"Reumatismo fibroblástico","definition":"Es una enfermedad reumatológica poco frecuente caracterizada por la aparición repentina de poliartritis inflamatoria distal simétrica y múltiples nódulos cutáneos firmes con predilección por las extremidades superiores e inferiores. A menudo, los pacientes desarrollan esclerodactilia y contracturas articulares. La biopsia de piel muestra proliferación fibroblástica en una matriz de fibras de colágeno engrosadas, con pérdida de fibras elásticas y sin deposición de mucina."},"it":{"name":"Reumatismo fibroblastico","definition":"Si tratta di una malattia reumatica rara, caratterizzata da poliartrite infiammatoria distale simmetrica ad esordio improvviso, associata a noduli cutanei solidi multipli, che interessano prevalentemente gli arti. I pazienti spesso sviluppano sclerodattilia e contratture articolari. La biopsia della cute mostra la proliferazione fibroblastica in una matrice delle fibre del collagene che sono ispessite, la perdita delle fibre elastiche, e l'assenza dei depositi di mucina."},"nl":{"name":"Fibroblastische reuma","definition":"Een zeldzame reumatologische aandoening, gekarakteriseerd door plotse aanvang van symmetrische inflammatoire distale polyartritis en multipele solide cutane noduli met predilectie voor bovenste en onderste ledematen. Patiënten ontwikkelen vaak sclerodactylie en gewrichtscontracturen. Biopsie van huid toont fibroblastische proliferatie in een matrix van verdikte collageenvezels, met verlies van elastische vezels en geen afzetting van mucine."},"pt":{"name":"Reumatismo fibroblástico"},"pl":{"name":"Reumatyzm fibroblastyczny"},"cs":{"name":"Fibroblastický revmatizmus"},"uk":{"name":"Фібробластичний ревматизм","definition":"A rare rheumatologic disease characterized by sudden onset of symmetric inflammatory distal polyarthritis and multiple firm cutaneous nodules with predilection for the upper and lower extremities. Patients often develop sclerodactyly and joint contractures. Skin biopsy shows fibroblastic proliferation in a matrix of thickened collagen fibers, with loss of elastic fibers and no mucin deposition."},"zh":{"name":"成纤维细胞性风湿病","definition":"是一种罕见的风湿病，以突发对称性炎症性远端多关节炎和多发性硬皮肤小节为特征，偏重于上、下肢。患者常出现指端硬化和关节挛缩。皮肤活检显示纤维细胞增生，基质为增厚的胶原纤维，弹性纤维消失，无粘蛋白沉积。"},"tr":{"name":"Fibroblastik romatizma"}},"xrefs":[{"source":"ICD-10","code":"M06.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB51.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"112300601"},{"source":"MONDO","code":"0018783","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1302753","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":486955,"name":"Rare pediatric rheumatologic disease","classifications":[231]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"25545215[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25545215[PMID]"}],"phenotypes":null}