{"orpha":199267,"name":"Infantile digital fibromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Inclusion body fibromatosis","Recurring digital fibrous tumor of childhood","Reye tumor"],"definition":"A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199267/","orphanet_url":"https://www.orpha.net/en/disease/detail/199267","names":{"fr":{"name":"Fibromatose digitale infantile","synonyms":["Fibromatose à corps d'inclusion","Tumeur de Reye","Tumeur fibreuse digitale récurrente de l'enfance"],"definition":"Fibromatose superficielle bénigne rare caractérisée par des excroissances sous forme de nodules de consistance ferme, de couleur rosée à chair, isolées ou multiples, d'une taille généralement inférieure à 2 cm. Apparaissant sur la face dorsale ou latérale des doigts et des orteils, elles ont tendance à récidiver. L'examen histologique révèle la présence de cellules fusiformes intradermiques avec des corps d'inclusion sphériques périnucléaires."},"de":{"name":"Fibromatose, digitale infantile","synonyms":["Fibroblastentumor mit Zytoplasmaeinschlüssen","Reye-Tumor","Rezidivierender digitaler fibröser Tumor der Kindheit"]},"es":{"name":"Fibromatosis digital infantil","synonyms":["Fibromatosis con cuerpos de inclusión","Tumor de Reye","Tumor fibroso digital recurrente de la infancia"],"definition":"Es una fibromatosis superficial, benigna y poco frecuente, caracterizada por el desarrollo de unos nódulos, múltiples o aislados, indurados, de coloración carne o rosada, generalmente de menos de 2 cm de tamaño. Se desarrollan en la cara dorsal o lateral de los dedos de las manos y los pies y tienen una tendencia a recurrir. La histología revela células fusiformes intradérmicas, blandas, con unos cuerpos de inclusión esféricos perinucleares."},"it":{"name":"Fibromatosi digitale infantile","synonyms":["Fibromatosi con corpi inclusi","Tumore di Reye","Tumore fibroso digitale ricorrente dell'infanzia"],"definition":"La fibromatosi digitale infantile è una fibromatosi superficiale benigna rara, caratterizzata da masse nodulari solide, solitarie o multiple, rosa o color carne, di solito di dimensioni inferiori ai 2 cm, localizzate nella porzione dorsale o laterale delle dita delle mani e dei piedi, con tendenza a recidivare. L'esame istologico evidenzia scarse cellule fusiformi intradermiche con corpi inclusi perinucleari sferici."},"nl":{"name":"Infantiele digitale fibromatose","synonyms":["Inclusielichaamfibromatose","Recidiverende digitale fibreuze tumor in de kindertijd","Reye-tumor"],"definition":"Infantiele digitale fibromatose is een zeldzame, goedaardige, oppervlakkige fibromatose die gekarakteriseerd wordt door stevige, roze tot vleeskleurige, solitaire of meervoudige nodulaire gezwellen, doorgaans met een omvang kleiner dan 2 cm. De gezwellen komen voor op de dorsale of laterale zijde van vingers en tenen en hebben de neiging om terug te keren. Histologisch onderzoek toont goedaardig uitziende intradermale spindelcellen met sferische perinucleaire inclusielichaampjes."},"pt":{"name":"Fibromatose digital da infância"},"pl":{"name":"Dziecięca włókniakowatość palców","synonyms":["Guz Reye'a","Nawracający dziecięcy guz włóknisty palców","Włókniakowatość z ciałkami wtrętowymi"]},"cs":{"name":"Infantilní digitální fibromatóza","synonyms":["Fibromatóza s inkluzními tělísky","Recidivující digitální fibrózní nádor dětského věku","Reyeův nádor"]},"uk":{"name":"Інфантильний дигітальний фіброматоз","synonyms":["Інклюзивний фіброматоз тіла","Рецидивуюча фіброзна пухлина пальця дитячого віку","Пухлина Рейє"],"definition":"A rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies."},"zh":{"name":"婴儿指趾纤维瘤病","synonyms":["儿童期复发指趾纤维瘤病"],"definition":"婴儿指纤维瘤病是一种罕见的良性浅表性纤维瘤病，表现为质硬，粉色或肉色，单发或多发结节状肿瘤，通常小于2厘米，发生于手指和脚趾的背侧或外侧，有复发可能。组织学表现为皮内梭形细胞和球形核周包涵体。"},"tr":{"name":"İnfantil dijital fibromatoz","synonyms":["Reye tümörü","İnklüzyon vücut fibromatozu","Çocukluk çağı nükseden dijital fibröz tümörü"]}},"xrefs":[{"source":"ICD-10","code":"M72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"246280296"},{"source":"MONDO","code":"0016039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1318562","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8487","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":199257,"name":"Superficial fibromatosis","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"23157779[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-02","source":"27684985[PMID]","terms":[{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Very rare (<4-1%)","criteria":null}]}}