{"orpha":99922,"name":"Ocular cicatricial pemphigoid","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99922/","orphanet_url":"https://www.orpha.net/en/disease/detail/99922","names":{"fr":{"name":"Pemphigoïde oculaire cicatricielle","definition":"Une maladie oculaire inflammatoire rare caractérisée par la formation de cloques sous-épithéliales se manifestant par une conjonctivite bilatérale asymétrique, chronique ou récurrente, et par une régénération tissulaire aberrante. Elles conduisent à une fibrose conjonctive progressive, secondaire à une vascularisation cornéenne, et dans certains cas, à une cécité. Les patients présentent habituellement une rougeur conjonctivale, un larmoiement excessif, une sensation de brûlure et/ou de présence de corps étranger, un oedème, une limbite et/ou une douleur oculaire de sévérité variable. Un ankyloblépharon peut s'observer dans les stades tardifs de la maladie."},"de":{"name":"Pemphigoid, okuläres vernarbendes","definition":"Eine seltene entzündliche Augenerkrankung, die durch subepitheliale Blasenbildung gekennzeichnet ist und sich durch bilaterale, asymmetrische, chronische oder rezidivierende Konjunktivitis und anomale Geweberegeneration manifestiert, die zu fortschreitender Bindehautfibrose, sekundärer Hornhautvaskularisierung und in einigen Fällen zur Erblindung führt. Die Patienten weisen in der Regel Bindehautrötungen, vermehrten Tränenfluss, Brennen und/oder Fremdkörpergefühl, Ödeme, Limbitis und/oder unterschiedlich starke Augenschmerzen auf. Im Endstadium der Erkrankung kann es zu einem Ankyloblepharon kommen."},"es":{"name":"Penfigoide ocular cicatricial","definition":"Es una enfermedad inflamatoria poco frecuente caracterizada por ampollas subepiteliales que se manifiesta por una conjuntivitis bilateral asimétrica, crónica o recurrente, y una regeneración tisular aberrante que ocasiona una fibrosis conjuntival progresiva, vascularización corneal secundaria y, en algunos casos, ceguera. Los pacientes afectos suelen presentar enrojecimiento conjuntival, lagrimeo, sensación de quemazón y/o cuerpo extraño, edema, limbitis y/o un grado variable de dolor ocular. En las fases finales de la enfermedad puede desarrollarse anquilobléfaron."},"it":{"name":"Pemfigoide cicatriziale oculare","definition":"Il pemfigoide cicatriziale oculare è una malattia infiammatoria rara dell'occhio, caratterizzata dalla formazione di vesciche sottoepiteliali che esordiscono con congiuntiviti bilaterali asimmetriche, croniche o ricorrenti, associate ad anomalie della rigenerazione dei tessuti, che esitano nella fibrosi progressiva della congiuntiva, nella vascolarizzazione secondaria della cornea e, in alcuni pazienti, nella cecità. Di solito i pazienti presentano arrossamento della congiuntiva, aumento della lacrimazione, bruciore e/o sensazione di corpo estraneo, edema, limbite e/o dolore oculare di grado variabile. L'anchiloblefaron può insorgere nelle fasi finali della malattia."},"nl":{"name":"Oculair cicatricieel pemfigoïd","definition":"Een zeldzame inflammatoire aandoening van oog, gekenmerkt door sub-epitheliale blaarvorming die zich manifesteert met bilaterale, asymmetrische, chronische of recidiverende bindvliesontsteking en afwijkende weefselregeneratie die leidt tot progressieve fibrose van bindvlies, secundaire vascularisatie van hoornvlies, en, in sommige gevallen, blindheid. Patiënten vertonen meestal roodheid van bindvlies, verhoogde traanproductie, brandend gevoel en/of gevoel van corpus alienum, oedeem, inflammatie van limbus en/of variabele gradaties van pijn in oog. Ankyloblefaron kan waargenomen worden tijdens finale stadia van de ziekte."},"pt":{"name":"Penfigóide ocular cicatricial"},"pl":{"name":"Pemfigoid bliznowaciejący oczny","definition":"Rzadka zapalna choroba oczu, charakteryzująca się powstawaniem pęcherzy podnabłonkowych, która objawia się obustronnym, asymetrycznym, przewlekłym lub nawracającym zapaleniem spojówek i nieprawidłową regeneracją tkanek prowadzącą do postępującego zwłóknienia spojówek, wtórnego unaczynienia rogówki i, w niektórych przypadkach, do ślepoty. Pacjenci zwykle zgłaszają się z zaczerwienieniem spojówek, zwiększonym łzawieniem, pieczeniem i/lub uczuciem ciała obcego w oku, obrzękiem, zapaleniem rąbka i/lub bólem oka o różnym nasileniu. W końcowych stadiach choroby można zaobserwować zrośnięcie brzegów powiek."},"cs":{"name":"Oční pemfigoid"},"uk":{"name":"Очний рубцевий пемфігоїд","definition":"A rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease."},"zh":{"name":"眼部瘢痕性类天疱疮","definition":"类天疱疮是一种罕见的炎症性眼病，以上皮下起泡为特征，表现为双侧、不对称、慢性或复发性结膜炎和异常组织再生，导致进行性结膜纤维化、继发性角膜血管化，在某些情况下甚至失明。患者通常表现为结膜发红、泪液增多、灼热和/或异物感、水肿、边缘炎和/或不同程度的眼痛。睑缘黏连可见于疾病的末期。"},"tr":{"name":"Oküler sikatrisyel pemfigoid"}},"xrefs":[{"source":"ICD-10","code":"H13.3*","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-10","code":"L12.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9A62","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"953963439"},{"source":"MONDO","code":"0008109","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1282359","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8759","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98610,"name":"Rare disorder with conjunctival involvement as a major feature","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}