{"orpha":252164,"name":"Benign schwannoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neurilemmoma","Neurilemoma","Peripheral fibroblastoma"],"definition":"A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-252164/","orphanet_url":"https://www.orpha.net/en/disease/detail/252164","names":{"fr":{"name":"Schwannome bénin","synonyms":["Fibroblastome périphérique","Neurilemmome","Neurilémome"],"definition":"Tumeur bénigne rare de la gaine des nerfs périphériques caractérisée par une lésion volumineuse, généralement encapsulée, composée de cellules de Schwann néoplasiques différenciées. Elle se développe aux dépends des nerfs périphériques de la tête et du cou et des extenseurs des membres, mais aussi des nerfs spinaux et crâniens, en particulier du nerf vestibulaire. La tumeur peut être asymptomatique ou provoquer des symptômes liés à un effet de masse tumorale. Elle se développe lentement et l'évolution vers une forme maligne est rare."},"de":{"name":"Schwannom, benignes","synonyms":["Fibroblastoma, peripheres","Neurilemmom","Neurolemmom"],"definition":"Ein seltener, gutartiger peripherer Nervenscheidentumor, der durch eine voluminöse, meist abgekapselte Läsion gekennzeichnet ist, die aus differenzierten neoplastischen Schwann-Zellen besteht. Er entsteht am häufigsten an peripheren Nerven in der Kopf- und Halsregion und an den Streckseiten der Extremitäten, aber auch an Rückenmarks- und Hirnnerven, insbesondere dem Nervus vestibularis. Der Tumor kann asymptomatisch sein oder Symptome im Zusammenhang mit einer Gewebeverdichtung hervorrufen. Er wächst langsam und maligne Transformation sind selten."},"es":{"name":"Schwannoma benigno","synonyms":["Fibroblastoma periférico","Neurilemoma"],"definition":"Es un tumor de la vaina del nervio periférico, benigno y poco frecuente, caracterizado por una lesión ocupante de espacio, por lo general encapsulada, compuesta por células de Schwann neoplásicas bien diferenciadas. Se origina con mayor frecuencia en los nervios periféricos de la región de la cabeza y el cuello y en los aspectos extensores de las extremidades, aunque también en los nervios espinales y craneales, especialmente en el nervio vestibular. El tumor puede ser asintomático o causar síntomas asociados al efecto de masa. Presenta un crecimiento lento y la transformación maligna es poco frecuente."},"it":{"name":"Schwannoma benigno","synonyms":["Fibroblastoma periferico","Neurilemmoma","Neurilemoma"],"definition":"Si tratta di un tumore benigno raro della guaina dei nervi periferici, caratterizzato da una lesione voluminosa di solito incapsulata, composta da cellule neoplastiche di Schwann differenziate. In genere origina dai nervi periferici della testa e del collo e dalla porzione estensoria degli arti, ma anche dai nervi spinali e cranici, in particolare dal nervo vestibolare. I pazienti possono essere asintomatici oppure presentare sintomi secondari alla presenza della massa tumorale. La crescita è lenta e l'evoluzione maligna è rara."},"nl":{"name":"Goedaardig schwannoom","synonyms":["Neurilemmoom","Neurilemoom","Perifeer fibroblastoom"],"definition":"Een zeldzame, goedaardige perifere zenuwschedetumor, gekarakteriseerd door een meestal ingekapselde, ruimte-innemende laesie bestaande uit gedifferentieerde neoplastische Schwanncellen. Deze ontstaat doorgaans uit perifere zenuwen in hoofd en nek, en ter hoogte van strekspieren van ledematen, maar ook uit spinale en craniale zenuwen, voornamelijk nervus vestibularis (evenwichtszenuw). De tumor kan asymptomatisch of symptomen gerelateerd aan een massa-effect veroorzaken. De tumor groeit traag en ondergaat maar zelden maligne transformatie."},"pt":{"name":"Schwannoma benigno","synonyms":["Fibroblastoma periférico","Neurilemoma","Neurolemoma"]},"pl":{"name":"Łagodny nerwiak osłonkowy","synonyms":["Fibroblastoma obwodowa","Neurilemmoma","Neurilemoma","Neurolemmoma"]},"cs":{"name":"Benigní schwannom","synonyms":["Neurilemom","Periferní fibroblastom"]},"uk":{"name":"Доброякісна шваннома","synonyms":["Нейрилеммома","Нейрилема","Периферична фібробластома"],"definition":"A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation."},"zh":{"name":"良性神经鞘瘤","synonyms":["外周成纤维细胞瘤"],"definition":"一种罕见的良性周围神经鞘膜瘤，其特征是由分化的肿瘤性施旺细胞组成的呈囊状的占位性病变。它最常见的来源是头颈部和四肢伸展部分的周围神经，但也可以来自脊神经和颅神经，尤其是前庭神经。肿瘤可能没有症状或引起与肿块效应有关的症状。它生长缓慢，很少发生恶变。"},"tr":{"name":"Selim schwannom","synonyms":["Nörilemoma","Nörilemmoma","Periferik fibroblastom"]}},"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":"378766741"},{"source":"MeSH","code":"D009442","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027809","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4767","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029235","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":[{"orpha":252175,"name":"Vestibular schwannoma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-23","source":"8283540[PMID]_9326316[PMID]_8889506[PMID]_2577271[PMID]_25965126[PMID]_25549149[PMID]_25077322[PMID]_24978928[PMID]_23808475[PMID]_23681039[PMID]_16823047[PMID]_12437849[PMID]_8730376[PMID]_8578360[PMID]_7484619[PMID]_8427574[PMID]_2013780[PMID]","terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030177","label":"Abnormality of peripheral nervous system electrophysiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009593","label":"Peripheral schwannoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100011","label":"Scleral schwannoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009588","label":"Vestibular schwannoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012533","label":"Allodynia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002031","label":"Abnormal esophagus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000197","label":"Abnormal parotid gland morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000769","label":"Abnormality of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010826","label":"Abnormality of the twelfth cranial nerve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003489","label":"Acute episodes of neuropathic symptoms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100697","label":"Neurofibrosarcoma","frequency":"Excluded (0%)","criteria":null}]}}