{"orpha":252183,"name":"Neurofibroma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-252183/","orphanet_url":"https://www.orpha.net/en/disease/detail/252183","names":{"fr":{"name":"Neurofibrome","definition":"Tumeur bénigne rare de la gaine des nerfs périphériques, caractérisée par une lésion intraneurale bien délimitée ou extraneurale infiltrée de façon diffuse et expansive, constituée de cellules de Schwann, de cellules de type périnerveux et de fibroblastes. Elle se présente sous la forme d'un nodule cutané, d'une masse circonscrite dans un nerf périphérique, d'un élargissement plexiforme du tronc nerveux majeur, ou d'une atteinte diffuse, mais localisée de la peau et du tissu sous-cutané. Les neurofibromes multiples sont généralement associés à la neurofibromatose 1. L'évolution maligne concerne presque exclusivement les neurofibromes plexiformes et les neurofibromes des nerfs principaux."},"de":{"name":"Neurofibrom","definition":"Ein seltener gutartiger peripherer Nervenscheidentumor, der durch eine scharf begrenzte intraneurale oder diffus infiltrierende extraneurale raumfordernde Läsion gekennzeichnet ist, die aus Schwann-Zellen, perineuralen Zellen und Fibroblasten besteht. Es zeigt sich als kutanes Knötchen, als umschriebene Gewebeverdichtung eines peripheren Nervs, als plexiforme Vergrößerung eines Hauptnervenstammes oder mit diffuser, aber lokalisierter Beteiligung der Haut und des subkutanen Gewebes. Multiple Neurofibrome sind typischerweise mit Neurofibromatose 1 assoziiert. Eine maligne Transformation tritt fast ausschließlich bei plexiformen Neurofibromen und Neurofibromen der Hauptnerven auf."},"es":{"name":"Neurofibroma","definition":"Es un tumor de la vaina nerviosa periférica, benigno y poco frecuente, caracterizado por una lesión ocupante de espacio, que puede ser tanto intraneural y bien delimitada como extraneural y difusamente infiltrante, compuesto por células de Schwann, células de tipo perineural y fibroblastos. Se presenta como un nódulo cutáneo, una masa delimitada en un nervio periférico, un agrandamiento plexiforme de un tronco nervioso principal o con afectación cutánea y subcutánea difusa aunque localizada. Los neurofibromas múltiples se asocian típicamente a la neurofibromatosis tipo 1. La transformación maligna ocurre casi exclusivamente en los neurofibromas plexiformes y en los neurofibromas de los nervios principales."},"it":{"name":"Neurofibroma","definition":"Si tratta di un tumore benigno raro della guaina dei nervi periferici, caratterizzato da una lesione voluminosa ben delimitata intraneurale o extraneurale diffusamente infiltrante, composta da cellule di Schwann, cellule simil-perineurali e fibroblasti. Si manifesta sotto forma di nodulo cutaneo, di massa circoscritta in un nervo periferico, di ingrossamento plessiforme di uno dei principali tronchi nervosi, oppure interessa diffusamente ma in forma localizzata la cute e il tessuto sottocutaneo. I neurofibromi multipli di solito si associano alla neurofibromatosi tipo 1. Si osserva un'evoluzione maligna quasi esclusivamente nei neurofibromi plessiformi e nei neurofibromi dei nervi principali."},"nl":{"name":"Neurofibroom","definition":"Een zeldzame, goedaardige perifere zenuwschedetumor, gekarakteriseerd door een goed begrensde, intraneurale of diffuus infiltratieve extraneurale, ruimte-innemende laesie bestaande uit Schwanncellen, perineuraal-achtige cellen, en fibroblasten. De tumor presenteert zich als een cutane nodulus, een begrensde massa in een perifere zenuw, een plexiforme vergroting van een zenuwstam, of met diffuse maar gelokaliseerde betrokkenheid van huid en onderhuids weefsel. Multipele neurofibromen zijn doorgaans geassocieerd met neurofibromatose 1. Maligne transformatie komt nagenoeg uitsluitend voor bij plexiforme neurofibromen en neurofibromen van grote zenuwen."},"pt":{"name":"Neurofibroma"},"pl":{"name":"Nerwiakowłókniak"},"cs":{"name":"Neurofibrom"},"uk":{"name":"Нейрофіброма","definition":"A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves."},"zh":{"name":"神经纤维瘤","definition":"一种罕见的良性周围神经鞘膜瘤，其特征为边界清楚的神经内或弥漫性浸润性神经外占位病变，由施旺细胞、神经周样细胞和成纤维细胞组成。表现为皮肤结节、周围神经局限性肿块、主要神经干丛状增大，或皮肤和皮下组织局限性受累但边界不清。多发性神经纤维瘤通常与神经纤维瘤病1相关。恶变几乎只发生在丛状神经纤维瘤和主要神经的神经纤维瘤。"},"tr":{"name":"Nörofibrom"}},"xrefs":[{"source":"ICD-10","code":"D36.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"221014277"},{"source":"MONDO","code":"0016755","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027830","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7191","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029267","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":252131,"name":"Benign peripheral nerve sheath tumor","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-17","source":"15177315[PMID]_28647116[PMID]_28666606[PMID]_22654333[PMID]_17695403[PMID]_20154031[PMID]_21741514[PMID]_23336913[PMID]_20194331[PMID]_26237456[PMID]_25128077[PMID]","terms":[{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012645","label":"Enlarged peripheral nerve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007470","label":"Periarticular subcutaneous nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009732","label":"Plexiform neurofibroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100698","label":"Subcutaneous neurofibromas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006751","label":"Paraspinal neurofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003406","label":"Peripheral nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009735","label":"Spinal neurofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006851","label":"Symmetric spinal nerve root neurofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012440","label":"Abnormal biliary tract morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007524","label":"Atypical neurofibromatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011801","label":"Enlargement of parotid gland","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012289","label":"Facial neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002584","label":"Intestinal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005220","label":"Multiple intestinal neurofibromatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100527","label":"Neoplasia of the pleura","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100551","label":"Neoplasm of the trachea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007576","label":"Palmar neurofibromas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009593","label":"Peripheral schwannoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100010","label":"Spinal meningioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Excluded (0%)","criteria":null}]}}