{"orpha":281139,"name":"Annular epidermolytic ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AEI"],"definition":"A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281139/","orphanet_url":"https://www.orpha.net/en/disease/detail/281139","names":{"fr":{"name":"Ichtyose épidermolytique annulaire","synonyms":["AEI"],"definition":"L'ichtyose épidermolytique annulaire (IEA) est une variante clinique rare de l'ichtyose épidermolytique (IE). Elle est caractérisée par la présence de bulles à la naissance et par le développement de plaques érythémateuses polycycliques annulaires sur le tronc et les extrémités."},"de":{"name":"Ichthyose, anuläre epidermolytische","synonyms":["AEI"],"definition":"Die ringförmige epidermolytische Ichthyose (AEI) ist eine seltene klinische Variante der Epidermolytischen Ichthyose (EI; siehe dort) und gekennzeichnet durch einen blasenbildenden Phänotyp bei der Geburt und eine ab dem frühen Säuglingsalter einsetzende Entwicklung von ringförmigen polyzyklischen erythematösen Abschuppungen am Rumpf und den Extremitäten."},"es":{"name":"Ictiosis epidermolítica anular","synonyms":["AEI"],"definition":"Es una variante clínica poco frecuente de la ictiosis epidermolítica (IE) caracterizada por la presencia de un fenotipo ampollar al nacimiento y por el desarrollo, desde la infancia temprana, de lesiones descamativas, eritematosas, policíclicas y anulares en tronco y extremidades."},"it":{"name":"Ittiosi epidermolitica anulare","synonyms":["AEI"],"definition":"L'ittiosi epidermolitica anulare (AEI) è una variante clinica rara dell'ittiosi epidermolitica (EI; si veda questo termine). Alla nascita è caratterizzata dalla formazione di vescicole e, nella prima infanzia, dalla presenza di squame eritematose anulari policicliche sul tronco e sulle estremità."},"nl":{"name":"Annulaire epidermolytische ichthyosis","synonyms":["AEI","Ringvormige epidermolytische ichthyosis"],"definition":"Een zeldzame klinische variant van epidermolytische ichthyosis (EI), gekarakteriseerd door de aanwezigheid van een blaarvormend fenotype bij de geboorte en de ontwikkeling vanaf de vroege zuigelingentijd van ringvormige polycyclische erythemateuze schilfers op romp en ledematen."},"pt":{"name":"Ictiose epidermolítica anular","synonyms":["AEI"]},"pl":{"name":"Rybia łuska pierścieniowa epidermolityczna","synonyms":["AEI"]},"cs":{"name":"Anulární epidermolytická ichtyóza","synonyms":["AEI"]},"uk":{"name":"Кільцевий епідермолітичний іхтіоз","synonyms":["AEI"],"definition":"A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities."},"zh":{"name":"环状表皮松解性鱼鳞病","synonyms":["AEI"],"definition":"表皮松解性鱼鳞病（EI）的一种罕见的临床变体，其特征是出生时出现水疱，从婴儿早期开始在躯干和四肢出现多环性红斑。"},"tr":{"name":"Anüler epidermolitik iktiyoz","synonyms":["AEI"]}},"xrefs":[{"source":"OMIM","code":"607602","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620148","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"280058464"},{"source":"MONDO","code":"0011870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843463","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281103,"name":"Keratinopathic ichthyosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT1","name":"keratin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10053007[PMID]","hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]},{"symbol":"KRT10","name":"keratin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9856845[PMID]_9036939[PMID]","hgnc":"6413","ensembl":"ENSG00000186395","omim":"148080","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"17596149[PMID]_14594577[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}