{"orpha":449566,"name":"Eosinophilic angiocentric fibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IgG4-related eosinophilic angiocentric fibrosis"],"definition":"A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449566/","orphanet_url":"https://www.orpha.net/en/disease/detail/449566","names":{"fr":{"name":"Fibrose angiocentrique à éosinophiles","synonyms":["Fibrose angiocentrique à éosinophiles associée à IgG4"],"definition":"Maladie othorinolaryngologique rare caractérisée par une masse sous-muqueuse indolente de taille et d'étendue variables, se développant le plus souvent dans la cavité nasale antérieure, touchant la cloison nasale et la paroi nasale latérale, et pouvant s'étendre aux sinus adjacents. L'atteinte du larynx et des voies respiratoires inférieures ou de l'orbite est rare. L'examen histologique révèle une fibrose stromale concentrique en bulbe d'oignon et une accumulation d'éosinophiles. On peut également observer un nombre élevé de plasmocytes IgG4-positifs dans la lésion, en plus d'une élévation du taux d'IgG4 sériques. Les patients manifestent généralement des symptômes d'obstruction de longue date."},"de":{"name":"Eosinophile angiozentrische Fibrose","synonyms":["Eosinophile angiozentrische Fibrose, IgG4-assoziierte"],"definition":"Eine seltene otorhinolaryngologische Erkrankung, die durch eine indolente submuköse Gewebeverdichtung unterschiedlicher Größe und Ausdehnung gekennzeichnet ist, die am häufigsten in der vorderen Nasenhöhle auftritt, die Nasenscheidewand und die seitliche Nasenwand mit einbezieht und sich möglicherweise in die angrenzenden Nasennebenhöhlen ausbreitet. Ein Auftreten im Kehlkopf und in den unteren Atemwegen oder in der Orbita ist selten. Die histologische Untersuchung zeigt eine konzentrische angiozentrische Stromafibrose (\"Zwiebelschalenfibrose\") und auffällige Eosinophile. Neben einem erhöhten IgG4-Serumspiegel kann auch eine erhöhte Anzahl von IgG4-positiven Plasmazellen in der Läsion beobachtet werden. Die Patienten weisen typischerweise lang anhaltende obstruktive Symptome auf."},"es":{"name":"Fibrosis angiocéntrica eosinofílica","synonyms":["Fibrosis angiocéntrica eosinofílica asociada a IgG4"],"definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por una masa submucosa indolente de tamaño y extensión variables, que se origina, con mayor frecuencia, en la cavidad nasal anterior, afectando al tabique nasal y a la pared nasal lateral, pudiendo extenderse a los senos adyacentes. La aparición en la laringe y el tracto respiratorio inferior o en las órbitas es poco frecuente. El examen histológico muestra fibrosis estromal angiocéntrica concéntrica (fibrosis de piel de cebolla) y eosinofilia. También se puede observar un mayor número de células plasmáticas IgG4 positivas en la lesión, además de niveles séricos elevados de IgG4. Los pacientes suelen presentar síntomas obstructivos mantenidos en el tiempo."},"it":{"name":"Fibrosi angiocentrica eosinofila","synonyms":["Fibrosi angiocentrica eosinofila IgG4-correlata"],"definition":"Si tratta di una malattia rara di interesse otorinolaringoiatrico, caratterizzata da una massa sottomucosa silente di dimensioni ed estensione variabili, che di solito origina dalla cavità nasale anteriore, coinvolge il setto nasale e la parete laterale del naso e può estendersi anche ai seni adiacenti. Raramente si localizza nella laringe, nelle vie respiratorie inferiori o nelle orbite. L'esame istologico evidenzia una fibrosi stromale angiocentrica concentrica (fibrosi a buccia di cipolla) ed una marcata presenza di eosinofili. La malattia si associa ad un numero elevato di plasmacellule IgG4-positive nella lesione, e ad un aumento delle IgG4 nel siero. Di solito i pazienti presentano per lungo tempo i sintomi secondari all'ostruzione."},"nl":{"name":"Eosinofiele angiocentrische fibrose","synonyms":["IgG4-gerelateerde eosinofiele angiocentrische fibrose"],"definition":"Een zeldzame otorinolaryngologische aandoening, gekarakteriseerd door een indolente submucosale massa met variabele omvang, die doorgaans ontstaat in anterieure neusholte, neustussenschot en laterale wand van neus aantast, en mogelijk uitbreidt naar aangrenzende sinussen. Aanwezigheid in larynx en onderste luchtwegen of oogkas is zeldzaam. Histologisch onderzoek toont concentrische angiocentrische stromale fibrose ('onionskin' fibrose) en prominente eosinofielen. Mogelijk wordt een verhoogd aantal IgG4-positieve plasmacellen waargenomen in de laesie, bovenop verhoogd IgG4-gehalte in serum. Patiënten presenteren zich doorgaans met langdurige obstructieve symptomen."},"pt":{"name":"Fibrose angiocêntrica eosinofílica"},"pl":{"name":"Eozynofilowe włóknienie angiocentryczne","synonyms":["Eozynofilowe włóknienie angiocentryczne związane z IgG4"]},"cs":{"name":"Eosinofilní angiocentrická fibróza","synonyms":["IgG4 asociovaná eosinofilní angiocentrická fibróza"]},"uk":{"name":"Еозинофільний ангіоцентричний фіброз","synonyms":["Еозинофільний ангіоцентричний фіброз, повязаний з IgG4"],"definition":"A rare otorhinolaryngologic disease characterized by an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall, and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms."},"zh":{"name":"嗜酸性血管中心性纤维变性","synonyms":["lgG4相关嗜酸性血管中心性纤维变性"]},"tr":{"name":"Eozinofilik anjiyosentrik fibroz","synonyms":["IgG4-lişkili eozinofilik anjiyosentrik fibroz"]}},"xrefs":[{"source":"ICD-10","code":"J39.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"57609544"},{"source":"MONDO","code":"0018676","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5578050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":284264,"name":"IgG4-related disease","classifications":[196]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":52.0,"area":"Worldwide","status":"Validated","source":"26674883[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26674883[PMID]"}],"phenotypes":null}