{"orpha":411777,"name":"Generalized eruptive keratoacanthoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GEKA","Generalized eruptive keratoacanthomas of Grzybowski","Grzybowski syndrome"],"definition":"Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411777/","orphanet_url":"https://www.orpha.net/en/disease/detail/411777","names":{"fr":{"name":"Kératoacanthome éruptif généralisé","synonyms":["GEKA","Kératoacanthome éruptif généralisé de Grzybowski","Syndrome de Grzybowski"],"definition":"Le kératoacanthome éruptif généralisé (GEKA) est un variant rare du kératoacanthome (KA) affectant la peau et les membranes muqueuses. Il est caractérisé par une éruption soudaine et généralisée, composée de centaines à de milliers de petites papules folliculaires extrêmement prurigineuses, souvent associées à un bouchon kératosique central."},"de":{"name":"Keratoakanthom, eruptives generalisiertes"},"es":{"name":"Queratoacantoma eruptivo generalizado","synonyms":["GEKA","Queratoacantoma eruptivo generalizado de Grzybowski","Síndrome de Grzybowski"],"definition":"Es una variante poco frecuente del queratoacantoma (AC) que afecta a la piel y a las membranas mucosas caracterizado por una erupción generalizada de inicio brusco formada por cientos a miles de pequeñas pápulas foliculares pruriginosas, a menudo con un tapón queratósico central."},"it":{"name":"Cheratoacantoma eruttivo generalizzato","synonyms":["Cheratoacantomi eruttivi generalizzati di Grzybowski","GEKA","Sindrome di Grzybowski"],"definition":"Il cheratoacantoma eruttivo generalizzato (GEKA) è una variante rara del cheratoacantoma (KA) che interessa la cute e le mucose. È caratterizzato dall'eruzione improvvisa e generalizzata di centinaia o migliaia di piccole papule follicolari molto pruriginose, che spesso presentano una chiazza cheratosica centrale."},"nl":{"name":"Gegeneraliseerd eruptief keratoacanthoom","synonyms":["GEKA","Gegeneraliseerde eruptieve keratoacanthomen van Grzybowski","Grzybowskisyndroom"],"definition":"Gegeneraliseerd eruptief keratoacanthoom (GEKA) is een zeldzame variant van keratoacanthoom (KA) die de huid en slijmvliezen treft, en die gekarakteriseerd wordt door een plotse, gegeneraliseerde uitbraak van fel jeukende, honderden tot duizenden kleine folliculaire papels, vaak met een centrale keratotische prop."},"pt":{"name":"Queratoacantoma eruptivo generalizado"},"pl":{"name":"Uogólniony rozsiany rogowiak kolczystokomórkowy","synonyms":["GEKA","Uogólniony rozsiany rogowiak kolczystokomórkowy Grzybowskiego","Zespół Grzybowskiego"]},"cs":{"name":"Generalizovaný eruptivní keratoakantom","synonyms":["GEKA","Generalizovaný eruptivní keratoakantom Grzybowského","Grzybowského syndrom"]},"uk":{"name":"Генералізована еруптивна кератоакантома","synonyms":["GEKA","Генералізована еруптивна кератоакантома Гжибовського","Синдром Гжибовського"],"definition":"Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug."},"zh":{"name":"广泛爆发性角棘皮瘤","synonyms":["格里波夫斯基全身性爆发性角棘皮瘤"],"definition":"全身性爆发性角化棘皮瘤（GEKA）是一种罕见的角膜棘皮瘤（KA）变化形态，会累及皮肤和粘膜，其特征是突发的全身性爆发性严重瘙痒，数百至数千个小滤泡丘疹，通常带有中央角化堵塞。"},"tr":{"name":"Jeneralize erüptif keratoakantom","synonyms":["GEKA","Grzybowski sendromu","Grzybowski'nin jeneralize eruptif keratoakantomları"]}},"xrefs":[{"source":"ICD-10","code":"L85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C31.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1659428165"},{"source":"MONDO","code":"0018471","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"25070745[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25070745[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-07","source":"14594609[PMID]","terms":[{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null}]}}