{"orpha":100002,"name":"Extraneural perineurioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Soft tissue perineurioma"],"definition":"Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100002/","orphanet_url":"https://www.orpha.net/en/disease/detail/100002","names":{"fr":{"name":"Périneuriome extraneural","synonyms":["Périneuriome des tissus mous"],"definition":"Tumeur rare des nerfs crâniens et spinaux prenant naissance dans la gaine des nerfs périphériques et composée exclusivement ou majoritairement de cellules présentant une différenciation périneurale. Elle se présente sous la forme d'une masse bien circonscrite, rarement encapsulée, non associée à un nerf spécifique, apparaissant le plus souvent dans le derme et le tissu sous-cutané des membres ou du tronc, plus rarement dans les tissus mous profonds ou dans la peau (par exemple, dans l'estomac, les reins, le pancréas, le sinus maxillaire, la mandibule, l'arbre bronchique et le visage). Le tableau clinique dépend de la localisation."},"de":{"name":"Perineuriom, extraneurales","synonyms":["Weichteilperineuriom"],"definition":"Das extraneurale Perineuriom ist ein seltener Tumor der Hirn- und Spinalnerven, der aus dem peripheren Nervenblatt entsteht und ausschließlich oder überwiegend aus Zellen besteht, die eine perineuriale Differenzierung aufweisen. Es präsentiert sich als gut umschriebene, selten eingekapselte Masse, die nicht mit einem (erkennbaren) Nerv assoziiert ist und meist in der Dermis und Subkutis der Extremitäten oder des Rumpfes oder selten in tiefem Weichteilgewebe oder der Haut (z. B. im Magen, der Niere, der Bauchspeicheldrüse, der Kieferhöhle, dem Unterkiefer, dem Bronchialbaum und dem Gesicht) entsteht. Das klinische Erscheinungsbild hängt von der Lokalisation ab."},"es":{"name":"Perineurioma extraneural","synonyms":["Perineurioma de tejidos blandos"],"definition":"Es un tumor poco frecuente de los nervios craneales y espinales que se origina en la lámina nerviosa periférica y se compone exclusiva- o predominantemente de células que muestran diferenciación perineural. Se presenta como una masa bien circunscrita, raramente encapsulada, no asociada a un nervio reconocible, que surge más comúnmente en la dermis y subcutis de las extremidades o del tronco, o, rara vez, en tejidos blandos profundos o la piel (p. ej., en el estómago, riñón, páncreas, seno maxilar, mandíbula, árbol bronquial y cara). La presentación clínica depende de la localización."},"it":{"name":"Perineurinoma extraneurale","synonyms":["Perineurinoma dei tessuti molli"],"definition":"Il perineurinoma extraneurale è una neoplasia rara dei nervi cranici e spinali, che origina dalla guaina dei nervi periferici ed è composto esclusivamente o prevalentemente da cellule differenziate in senso perineurale. Esordisce come massa ben circoscritta, raramente incapsulata e non associata a un nervo identificabile, che spesso origina dal derma e dalla regione sottocutanea degli arti o del tronco, oppure, raramente, dai tessuti molli profondi o dalla cute (a livello dello stomaco, dei reni, del pancreas, del seno mascellare, della mandibola, dell'albero bronchiale e del volto). Il quadro clinico dipende dalla localizzazione."},"nl":{"name":"Extraneuraal perineurioom","synonyms":["Perineurioom van de weke delen"],"definition":"Extraneuraal perineurioom is een zeldzame tumor van craniale en spinale zenuwen die ontstaat uit perifere zenuwscheden en bestaat exclusief of voornamelijk uit cellen die perineuriale differentiatie vertonen. Het komt voor als een goed begrensde, zelden ingekapselde massa, die niet is geassocieerd met een herkenbare zenuw, en die doorgaans ontstaat in de dermis en de subcutis (onderhuids weefsel) van de ledematen of de romp, of in zeldzamere gevallen, in diepe weke delen of huid (e.g. in de maag, nier, pancreas, kaaksinus, onderkaak, bronchiaalboom en het gelaat). Het klinisch beeld hangt af van de locatie."},"pt":{"name":"Perineurioma extraneural"},"pl":{"name":"Nerwiak zewnątrznerwowy","synonyms":["Guz okołonerwowy/Onerwiak tkanek miękkich"],"definition":"*Nerwiak zewnątrznerwowy jest rzadkim nowotworem nerwów czaszkowych i rdzeniowych, który powstaje z osłonek nerwów obwodowych i jest zbudowany wyłącznie lub w przeważającej części z komórek wykazujących różnicowanie w kierunku komórek okołonerwowych (perineuronalnych). Przyjmuje postać dobrze ograniczonej, z reguły nieotorbionej masy, niezwiązanej z konkretnym nerwem, która najczęściej zlokalizowana jest w skórze właściwej i tkance podskórnej kończyn lub tułowia, rzadziej w głębokiej tkance miękkiej lub skórze (np. w żołądku, nerce, trzustce, zatoce szczękowej, żuchwie, drzewie oskrzelowym i na twarzy). Objawy kliniczne zależą od lokalizacji."},"cs":{"name":"Extraneurální perineuriom","synonyms":["Perineuriom z měkkých tkání"]},"uk":{"name":"Екстраневральна периневріома","synonyms":["Периневрома мяких тканин"],"definition":"Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization."},"zh":{"name":"神经外神经鞘瘤","synonyms":["软组织神经膜瘤"],"definition":"神经外神经束膜瘤是一种罕见的脑神经和脊神经肿瘤，起源于周围神经鞘，仅由或主要由显示神经周围分化的细胞组成。它表现为边界清楚，很少包膜的肿块，与可识别的神经无关，最常发生在四肢或躯干的真皮和皮下组织，也有少数发生在深层软组织或皮肤(如胃、肾、胰腺、上颌窦、下颌骨、支气管树和面部)。临床表现取决于定位。"},"tr":{"name":"Ekstranöral perinörom","synonyms":["Yumuşak doku perinöryomu"]}},"xrefs":[{"source":"ICD-10","code":"D36.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"691853283"},{"source":"MONDO","code":"0015031","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":85102,"name":"Perineurioma","classifications":[181,202]}],"children":[{"orpha":100000,"name":"Reticular perineurioma","type":"Clinical subtype"},{"orpha":100001,"name":"Sclerosing perineurioma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}