{"orpha":357154,"name":"Oral submucous fibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OSMF"],"definition":"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357154/","orphanet_url":"https://www.orpha.net/en/disease/detail/357154","names":{"fr":{"name":"Fibrose buccale sous-muqueuse","synonyms":["OSMF"],"definition":"La fibrose buccale sous-muqueuse (OSMF) est une maladie chronique progressive qui modifie la fibroélasticité de la sous-muqueuse buccale. Elle est répandue en Inde et en Asie de Sud-Est, mais rare ailleurs. Elle se caractérise par une douleur et une sensation de brûlure dans la bouche, une perte de sensation gustative, la présence de bandes fibreuses blanchâtres et un raidissement de la muqueuse buccale et de l'oropharynx (conduisant à un trismus et à une diminution progressive de l'ouverture de la bouche), ainsi qu'un risque accru de développer un cancer épidermoïde de la bouche (3-19%). La maladie est généralement associée à la mastication de noix d'arec (un ingrédient de la chique de bétel) mais l'étiologie exacte est inconnue. Aucun traitement efficace n'existe actuellement."},"de":{"name":"Orale submuköse Fibrose","synonyms":["OSMF"],"definition":"Die Orale submuköse Fibrose (OSMF) ist eine chronische progressive Erkrankung mit veränderter Elastizität des Bindegewebes der oralen Submukosa. Sie tritt häufiger in Indien und Südostasien auf und seltener im Rest der Welt. Symptome sind ein brennendes Gefühl und Schmerzen in der Mundhöhle, Verlust der Geschmacksempfindung, blass-fibröse Bänderung und Versteifung der Mundschleimhaut und des Rachenraumes (mit der Folge von Trismus und zunehmender Reduktion der Mundöffnung). Es besteht ein erhöhtes Risiko (3-19 %) für die Entwicklung eines Plattenepithel-Karzinoms der Mundhöhle. Meist steht die Krankheit in Verbindung mit dem Kauen der Arekanuss (einem Bestandteil des Betelbissens), aber die eigentliche Ursache ist nicht genau bekannt. Gegenwärtig gibt es keine wirksame Behandlung."},"es":{"name":"Fibrosis submucosa oral","synonyms":["OSMF"],"definition":"La fibrosis submucosa oral (OSMF) es una enfermedad progresiva crónica que altera la fibroelasticidad de la submucosa oral. Es prevalente en la India y el sudeste asiático pero poco frecuente en el resto del mundo, y se caracteriza por ardor y dolor en la cavidad oral, pérdida de la sensibilidad gustativa, presencia de bandas fibrosas blanqueadas y rigidez de la mucosa oral y orofaríngea (que conlleva trismo y la reducción progresiva de la apertura oral) y un incremento del riesgo de desarrollar un cáncer oral de células escamosas (3-19%). Suele estar asociada con la masticación de la nuez de areca pero la etiología exacta es desconocida y actualmente no hay un tratamiento efectivo."},"it":{"name":"Fibrosi orale sottomucosa","synonyms":["OSMF"],"definition":"La fibrosi orale sottomucosa (OSMF) è una malattia progressiva cronica che altera la fibroelasticità della mucosa orale. Comune in India e nell'Asia sudorientale e rara nel resto del mondo, è caratterizzata da bruciore e dolore nel cavo orale, perdita del senso del gusto, presenza di bande fibrose bianche e irrigidimento della mucosa orale e dell'orofaringe (che esitano nel trisma e nella progressiva riduzione dell'apertura della bocca), e rischio di sviluppare il cancro orale a cellule squamose (3-19%). Si associa di solito alla masticazione della noce di areca (un ingrediente della \"cicca di betel\"), sebbene l'eziologia esatta non sia nota e non esista attualmente un trattamento efficace."},"nl":{"name":"Orale submuceuze fibrose","synonyms":["OSMF"],"definition":"Orale submuceuze fibrose (OSMF) is een chronische, progressieve ziekte die de fibro-elasticiteit van de orale submucosa wijzigt. Ze komt overwegend voor in India en Zuidoost-Azië maar is elders zeldzaam. Karakteristieken zijn een branderig gevoel en pijn in de mond, een verlies van smaakzin, de aanwezigheid van gebleekte vezelachtige stroken en verstijving van het mondslijmvlies en de orofarynx (wat leidt tot trismus en een progressieve vermindering van mondopening), en een verhoogd risico op het ontwikkelen van plaveiselcelcarcinoom van de mond (3-19%). Het wordt doorgaans geassocieerd met het kauwen van betelnoot (een ingrediënt van betelpruim) maar de precieze etiologie is onbekend en momenteel bestaat er geen effectieve behandeling."},"pt":{"name":"Fibrose oral submucosa"},"pl":{"name":"Zwłóknienie podśluzówkowe jamy ustnej","synonyms":["OSMF"]},"cs":{"name":"Orální submukózní fibróza","synonyms":["OSMF"]},"uk":{"name":"Підслизовий фіброз ротової порожнини","synonyms":["OSMF"],"definition":"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment."},"zh":{"name":"口腔粘膜下纤维性变","synonyms":["OSMF"],"definition":"口腔粘膜下纤维化(OSMF)是一种慢性进行性疾病，会造成口腔粘膜下层纤维弹性的改变。本病在印度和东南亚流行，但在其他地方很少见。本病的特征为口腔灼热和疼痛，味觉丧失，口腔粘膜和口咽部出现漂白的纤维带和僵硬(导致口部痉挛和张口度逐渐减少)，并导致口腔鳞状细胞癌的发生风险增加(3-19%)。本病通常与咀嚼槟榔(槟榔中的一种成分)有关，但确切的病因尚不清楚，目前还没有有效的治疗方法。"},"tr":{"name":"Oral submukoz fibroz","synonyms":["OSMF"]}},"xrefs":[{"source":"ICD-10","code":"K13.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"DA02.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1798376929"},{"source":"MONDO","code":"0018166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009914","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029172","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7264","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031023","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68329,"name":"Rare maxillo-facial surgical disease"},"parents":[{"orpha":68329,"name":"Rare maxillo-facial surgical disease","classifications":[209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012182","label":"Oropharyngeal squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}