{"orpha":493,"name":"Familial keratoacanthoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary keratoacanthoma","Multiple keratoacanthoma"],"definition":"A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-493/","orphanet_url":"https://www.orpha.net/en/disease/detail/493","names":{"fr":{"name":"Kératoacanthome familial","synonyms":["Kératoacanthome héréditaire","Kératoacanthome multiple"],"definition":"Syndrome héréditaire rare de cancer de la peau caractérisé par la coexistence de caractéristiques typiques à la fois de l'épithéliome squameux multiple spontanément curable et du kératoacanthome éruptif généralisé, se présentant sous la forme de multiples petites lésions de type miliaire, des lésions plus étendues régressant spontanément et des lésions nodulo-ulcéreuses. Les lésions n'ont pas de prédilection pour les surfaces muqueuses."},"de":{"name":"Keratoakanthom, familiäres","synonyms":["Keratoakanthom, hereditäres","Keratoakanthome, multiple"],"definition":"Ein seltenes vererbtes Hautkrebssyndrom, das durch das gleichzeitige Auftreten von Merkmalen gekennzeichnet ist, die sowohl für multiple selbstheilende Plattenepithelkarzinome als auch für generalisierte eruptive Keratoakanthome typisch sind, z. B. multiple kleine milienartige Läsionen, größere selbstheilende Läsionen und nodulöse ulzerative Läsionen. Die Läsionen zeigen keine Präferenz für Schleimhautoberflächen."},"es":{"name":"Queratoacantoma familiar","definition":"Es un síndrome de cáncer cutáneo hereditario poco frecuente caracterizado por la coexistencia de rasgos típicos del epitelioma escamoso autocurativo y del queratoacantoma eruptivo generalizado, en forma de múltiples pápulas de pequeño tamaño de tipo miliar, lesiones autoinvolutivas de mayor tamaño y lesiones nódulo-ulcerativas. No suelen afectar a las superficies mucosas."},"it":{"name":"Cheratoacantoma familiare","synonyms":["Epitelioma multiplo squamoso a guarigione spontanea"],"definition":"Il cheratoacantoma (KA) familiare multiplo di Witten e Zak è una neoplasia cutanea rara ereditaria, caratterizzata dall'associazione tra i segni clinici caratteristici del KA multiplo tipo Ferguson-Smith e il cheratoacantoma eruttivo generalizzato (si vedano questi termini), con lesioni multiple di piccole dimensioni che ricordano il chicco del miglio, lesioni più grandi che guariscono spontaneamente e lesioni nodulari ulcerose. Le lesioni non mostrano predilezione per le mucose. La trasmissione è autosomica dominante."},"nl":{"name":"Familiaal keratoacanthoom","synonyms":["Erfelijk keratoacanthoom","Meervoudig keratoacanthoom"],"definition":"Een zeldzaam erfelijk syndroom van huidkanker, gekenmerkt door co-existentie van kenmerken die typisch zijn voor zowel multipel zelfhelend squameus epithelioom en gegeneraliseerd eruptief keratoacanthoom, zoals multipele kleine laesies van het miliaire type, grotere zelfhelende laesies, en nodulo-ulceratieve laesies. Laesies hebben geen voorkeur voor mucosale oppervlakken."},"pt":{"name":"Queratoacantoma familiar","synonyms":["Epitelioma escamoso múltiplo de remissão espontânea"]},"pl":{"name":"Rodzinny rogowiak kolczystokomórkowy","synonyms":["Dziedziczny rogowiak kolczystokomórkowy","Mnogi rogowiak kolczystokomórkowy"],"definition":"Rzadki dziedziczny rak skóry, charakteryzujący się współistnieniem cech typowych zarówno dla mnogiego samoleczącego się nabłoniaka płaskonabłonkowego, jak i uogólnionego rozsianego rogowiaka kolczystokomórkowego, takich jak mnogie małe zmiany prosówkowe, większe zmiany samogojące się oraz zmiany guzkowo-wrzodziejące. Zmiany nie szerzą się na powierzchnię błon śluzowych."},"cs":{"name":"Familiární keratoakantom","synonyms":["Hereditární keratoakantom","Mnohočetný keratoakantom"]},"uk":{"name":"Сімейна кератоакантома","synonyms":["Спадкова кератоакантома","Множинна кератоакантома"],"definition":"A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces."},"zh":{"name":"家族性角化棘皮瘤","synonyms":["遗传性角化棘皮瘤"]},"tr":{"name":"Ailesel keratoakantom","synonyms":["Çoklu keratoakantom","Kalıtsal keratoakantom"]}},"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":"1434188859"},{"source":"MONDO","code":"0018851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536150","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848325","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009720","label":"Adenoma sebaceum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}