{"orpha":352657,"name":"Hereditary benign intraepithelial dyskeratosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HBID","Hereditary benign corneal intraepithelial dyskeratosis"],"definition":"A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352657/","orphanet_url":"https://www.orpha.net/en/disease/detail/352657","names":{"fr":{"name":"Dyskératose intraépithéliale héréditaire bénigne","synonyms":["Dyskératose intraépithéliale cornéenne héréditaire bénigne","HBID"],"definition":"Dystrophie cornéenne superficielle génétique rare caractérisée par des plaques épithéliales blanches, en relief, situées sur la conjonctive bulbaire (recouvrant parfois la cornée) et sur la muqueuse buccale (pouvant affecter toute partie de la cavité buccale), associées à une dilatation des vaisseaux sanguins du tissu conjonctif et une hyperhémie, observée principalement chez les descendants des Amérindiens Haliwa-Saponi. Les patients peuvent être asymptomatiques ou présenter des démangeaisons oculaires, des cicatrices cornéennes superficielles, un larmoiement excessif, une photophobie et une perte de vision due à une opacité cornéenne. Sur le plan histologique, les lésions oculaires et buccales présentent une acanthose qui s'accompagne d'une hyperkératose et d'une dyskératose proéminente."},"de":{"name":"Hereditäre benigne intraepitheliale Dyskeratose","synonyms":["HBID"],"definition":"Eine seltene, genetisch bedingte oberflächliche Hornhautdystrophie. Sie ist gekennzeichnet durch weiße, erhabene, epitheliale Plaques auf der bulbären Bindehaut (manchmal mit Beteiligung der Hornhaut) und der Mundschleimhaut (in jedem Teil der Mundhöhle) in Verbindung mit erweiterten, hyperämischen, konjunktivalen Blutgefäßen. Die Krankheit tritt gehäuft bei Nachkommen der Haliwa-Saponi-Indianer auf. Die Patienten können asymptomatisch sein oder sich mit Augenjucken, oberflächlicher Hornhautvernarbung, übermäßigem Tränenfluss, Photophobie und Sehverlust aufgrund von Hornhauttrübungen präsentieren. Histologisch zeigen sowohl die okulären als auch die oralen Läsionen Akanthose mit Hyperkeratose und ausgeprägter Dyskeratose."},"es":{"name":"Disqueratosis intraepitelial benigna hereditaria","synonyms":["Disqueratosis intraepitelial corneal benigna hereditaria","HBID"],"definition":"Es una distrofia corneal superficial, genética y poco frecuente, caracterizada por placas epiteliales elevadas de color blanco localizadas en la conjuntiva bulbar (a menudo con invasión corneal) y en la mucosa oral (en cualquier parte de la cavidad oral), asociada a dilatación e hiperemia de los vasos sanguíneos conjuntivales observada principalmente en descendientes de los nativos americanos Haliwa-Saponi. Los pacientes pueden permanecer asintomáticos o presentarse con prurito ocular, cicatrización corneal superficial, lagrimeo excesivo, fotofobia y pérdida visual debida a la opacidad corneal. Histológicamente, las lesiones oculares y orales muestran acantosis con hiperqueratosis y marcada disqueratosis."},"it":{"name":"Discheratosi intraepiteliale benigna ereditaria","synonyms":["Discheratosi intraepiteliale corneale benigna ereditaria","HBID"],"definition":"È una distrofia superficiale rara della cornea, di origine genetica, caratterizzata da placche epiteliali bianche rilevate, localizzate sulla congiuntiva bulbare (talvolta con invasione della cornea) e sulla mucosa orale (in qualsiasi punto della cavità orale), associate alla dilatazione e all'iperemia dei vasi sanguigni della congiuntiva. La malattia colpisce per lo più i discendenti nei nativi americani Haliwa-Saponi. I pazienti possono essere asintomatici oppure presentare prurito oculare, cicatrici corneali superficiali, eccessiva lacrimazione, fotofobia e perdita della vista secondaria alle opacità della cornea. Dal punto di vista istologico, sia le lesioni oculari che quelle orali mostrano acantosi con ipercheratosi e marcata discheratosi."},"nl":{"name":"Hereditaire benigne intra-epitheliale dyskeratose","synonyms":["Erfelijke goedaardige corneale intra-epitheliale dyskeratose","HBID"],"definition":"Een zeldzame, genetische, oppervlakkige corneadystrofie die gekarakteriseerd wordt door witte, verheven, epitheliale plaques gesitueerd op de bulbaire conjunctiva (soms met aantasting van het hoornvlies) en het wangslijmvlies (eender waar in de mondholte), geassocieerd met dilatatie en hyperemie van conjunctivale bloedvaten, en die voornamelijk waargenomen wordt bij afstammelingen van Haliwa-Saponi inheemse Amerikanen. Patiënten kunnen asymptomatisch zijn of zich presenteren met jeukende ogen, oppervlakkige littekenvorming aan het hoornvlies, overmatige traanproductie, fotofobie en functieverlies van het zicht als gevolg van hoornvliestroebeling. Histologisch vertonen zowel oculaire als orale laesies acanthose met hyperkeratose en aanzienlijke dyskeratose."},"pt":{"name":"Disqueratose intraepitelial da córnea, hereditária e benigna"},"pl":{"name":"Dziedziczna łagodna dyzkeratoza wewnątrznabłonkowa","synonyms":["Dziedziczna łagodna dyzkeratoza wewnątrznabłonkowa rogówki","HBID"]},"cs":{"name":"Dědičná benigní intraepiteliální dyskeratóza","synonyms":["HBID","Dědičná benigní intraepiteliální dyskeratóza rohovky"]},"uk":{"name":"Спадковий доброякісний інтраепітеліальний дискератоз","synonyms":["HBID","Спадковий доброякісний інтраепітеліальний дискератоз рогівки"],"definition":"A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis."},"zh":{"name":"遗传性良性上皮内角化不良","synonyms":["遗传性良性上皮角膜内角化不良"],"definition":"本病是一种罕见的遗传性浅层角膜营养不良病，特征是球结膜(有时伴有角膜受累)和口腔粘膜(口腔的任何部分)上有白色隆起的上皮斑块，与扩张、充血的结膜血管有关，主要见于哈利瓦-萨波尼印第安人后裔。患者可以无症状或出现眼部瘙痒、角膜浅表瘢痕、过度流泪、畏光和因角膜混浊而导致的视力丧失。组织学上，眼和口腔病变均表现为棘皮病，伴有角化过度和明显角化不良。"},"tr":{"name":"Kalıtsal selim intraepitelyal diskeratoz","synonyms":["HBID","Kalıtsal selim korneal intraepitelyal diskeratoz"]}},"xrefs":[{"source":"OMIM","code":"127600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA02.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2059594980"},{"source":"MONDO","code":"0007486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265966","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522562,"name":"Genetic superficial corneal dystrophy","classifications":[156]},{"orpha":98625,"name":"Superficial corneal dystrophy","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}