{"orpha":199251,"name":"Ledderhose disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Plantar fibromatosis"],"definition":"A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199251/","orphanet_url":"https://www.orpha.net/en/disease/detail/199251","names":{"fr":{"name":"Maladie de Ledderhose","synonyms":["Fibromatose plantaire"],"definition":"Fibromatose superficielle bénigne rare caractérisée par un nodule isolé ou par de multiples nodules fermes et ronds, unilatéraux ou bilatéraux, à progression lente, généralement localisés sur la zone médiane de l'aponévrose plantaire, sans calcification. Les patients sont souvent asymptomatiques ou peuvent présenter des douleurs aux pieds, des difficultés à marcher ou à rester debout et, dans de rares cas, des contractures des orteils. L'examen histopathologique met en évidence un tissu fibrocellulaire dense avec une disposition nodulaire et parallèle des fibrocytes et du collagène fibrillaire, de morphologie caractéristique en tire-bouchon et sans atypie."},"de":{"name":"Ledderhose-Krankheit","synonyms":["Fibromatose, plantare"],"definition":"Eine seltene, gutartige, oberflächliche Fibromatose, die durch einzelne oder mehrere, ein- oder beidseitige, fixierte, langsam wachsende, runde, feste Knötchen gekennzeichnet ist, die sich typischerweise im medialen Teil der Plantaraponeurose befinden und nicht verkalkt sind. Die Patienten sind häufig asymptomatisch oder haben Fußschmerzen, Schwierigkeiten beim Gehen oder Stehen und, selten, Zehenkontrakturen. Die Histopathologie zeigt dichtes fibrozelluläres Gewebe mit parallelen und knotigen Anordnungen von Fibrozyten und fibrillärem Kollagen mit einer ausgeprägten Korkenzieher-Morphologie und keiner Atypie."},"es":{"name":"Enfermedad de Ledderhose","synonyms":["Fibromatosis plantar"],"definition":"Es una fibromatosis superficial, benigna y poco frecuente caracterizada por nódulos aislados o múltiples, uni- o bilaterales, fijos, de crecimiento lento, redondeados, firmes, típicamente localizados en la porción medial de la aponeurosis plantar, con ausencia de calcificaciones. Los pacientes afectados, a menudo, permanecen asintomáticos o pueden presentar dolor en los pies, dificultad en la deambulación o para mantenerse en pie y, excepcionalmente, contracturas en los dedos de los pies. La histopatología revela tejido fibrocelular denso con un entramado paralelo y nodular de fibrocitos y colágeno fibrilar con una morfología distintiva ''en sacacorchos'' y sin atipia."},"it":{"name":"Malattia di Ledderhose","synonyms":["Fibromatosi plantare"],"definition":"È una fibromatosi superficiale benigna rara, caratterizzata dalla presenza di noduli solidi e fissi, singoli o multipli, mono- o bilaterali, dalla forma arrotondata e a crescita lenta, di solito localizzati nella porzione mediana dell'aponeurosi plantare, in assenza di calcificazione. Spesso i pazienti sono asintomatici, oppure presentano dolore ai piedi, difficoltà a deambulare o a mantenere la posizione eretta, e, raramente, contratture delle dita dei piedi. Gli esami istopatologici evidenziano un tessuto fibrocellulare denso con fibrociti e collagene fibrillare a decorso parallelo e nodulare, con un caratteristico aspetto ''a cavatappi'', in assenza di atipie."},"nl":{"name":"Ziekte van Ledderhose","synonyms":["Plantaire fibromatose"],"definition":"Een zeldzame, goedaardige, oppervlakkige fibromatose die gekarakteriseerd wordt door een of meerdere, uni- of bilaterale, gefixeerde, traag groeiende, ronde, stevige noduli doorgaans gesitueerd op het middelste deel van de plantaire aponeurose, zonder calcificatie. Patiënten zijn vaak asymptomatisch of presenteren zich met pijn aan de voet, moeilijkheden om te stappen of staan, en, zelden, teencontracturen. Histopathologie toont dens fibrocellulair met parallel en nodulair geschikte fibrocyten en fibrillair collageen met een kenmerkende kurkentrekker-achtige morfologie en geen atypie."},"pt":{"name":"Doença Ledderhose","synonyms":["Fibromatose plantar"]},"pl":{"name":"Choroba Ledderhose'a","synonyms":["Włokniakowatość podeszwowa"]},"cs":{"name":"Ledderhosův syndrom","synonyms":["Plantární fibromatóza","Ledderhoseova nemoc"]},"uk":{"name":"Хвороба Леддерхауза","synonyms":["Підошовний фіброматоз"],"definition":"A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia."},"zh":{"name":"Ledderhose 病","synonyms":["跖腱膜纤维瘤病"],"definition":"Ledderhose病是一种罕见的良性浅表性纤维瘤病，为单发或多发的圆形硬结节，位于单侧或双侧，活动度差，生长缓慢，通常位于足底腱膜的内侧，无钙化。患者通常无症状，或可出现脚痛、行走或站立困难，很少出现脚趾挛缩。病理组织学显示致密的纤维细胞组织，纤维细胞和胶原纤维平行结节状排列，具有特德的螺旋形状，无异型性。"},"tr":{"name":"Ledderhose hastalığı","synonyms":["Plantar fibromatoz"]}},"xrefs":[{"source":"ICD-10","code":"M72.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB51.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"409482033"},{"source":"MONDO","code":"0004684","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000071380","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158360","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6873","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035154","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":199257,"name":"Superficial fibromatosis","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}