{"orpha":512103,"name":"Autosomal recessive epidermolytic ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AREI"],"definition":"A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-512103/","orphanet_url":"https://www.orpha.net/en/disease/detail/512103","names":{"fr":{"name":"Ichtyose épidermolytique autosomique récessive","synonyms":["AREI"],"definition":"Ichtyose héréditaire rare non syndromique caractérisée par une érythrodermie congénitale généralisée avec des vésicules et des érosions cutanées, dont le signe à la naissance se présente sous la forme d'un bébé collodion, évoluant dans un deuxième temps vers une hyperkératose progressive plus tard dans la vie, sans atteinte palmoplantaire. L'analyse ultrastructurale révèle des filaments de kératine épars et des amas de kératine présentant une structure amorphe presque homogène."},"de":{"name":"Ichthyose, epidermolytische, autosomal-rezessive","synonyms":["AREI"],"definition":"Eine hereditäre nicht-syndromale Ichthyose, die durch eine kongenitale, generalisierte Erythrodermie mit Blasenbildung und Erosionen der Haut gekennzeichnet ist, die bei der Geburt einer Kollodiumpräsentation ähnelt und im späteren Leben durch eine progressive Hyperkeratose ohne palmoplantare Beteiligung abgelöst wird. Die ultrastrukturelle Pathologie besteht aus spärlichen Keratinfilamenten und Keratinklumpen, die eine nahezu homogene, amorphe Struktur aufweisen."},"es":{"name":"Ictiosis epidermolítica autosómica recesiva","synonyms":["AREI"],"definition":"Es una ictiosis no sindrómica, hereditaria y poco frecuente caracterizada por eritrodermia generalizada congénita con ampollas y erosiones cutáneas, similar a la presentación de bebé colodión, reemplazada por una hiperqueratosis progresiva en edades más tardías sin afectación palmoplantar. El examen ultraestructural muestra escasez de filamentos y formación de acúmulos de queratina, mostrando una estructura amorfa casi homogénea."},"it":{"name":"Ittiosi epidermolitica autosomica recessiva","synonyms":["AREI"],"definition":"Si tratta di un'ittiosi rara ereditaria non sindromica, caratterizzata da eritroderma congenito generalizzato associato a vesciche ed erosioni cutanee, simile alla membrana congenita di collodio, successivamente sostituita da ipercheratosi progressiva, in assenza di un coinvolgimento palmoplantare. Il quadro ultrastrutturale è composto da filamenti radi di cheratina e da grumi di cheratina con struttura amorfa quasi omogenea."},"nl":{"name":"Autosomaal recessieve epidermolytische ichthyosis","synonyms":["AREI"],"definition":"Een zeldzame hereditaire niet-syndromale ichthyosis, gekarakteriseerd door congenitale, gegeneraliseerde erytrodermie met cutane blaarvorming en erosie, gelijkend op collodium bij de geboorte, die vervangen wordt door progressieve hyperkeratose op latere leeftijd, zonder palmoplantaire betrokkenheid. De ultrastructurele pathologie bestaat uit schaarse keratinefilamenten en -aggregaten die een nagenoeg homogene, amorfe structuur vertonen."},"pt":{"name":"Ictiose epidermolítica autossómica recessiva"},"pl":{"name":"Autosomalna recesywna rybia łuska epidermolityczna","synonyms":["AREI"]},"cs":{"name":"Autozomálně recesivní epidermolytická ichtyóza","synonyms":["AREI"]},"uk":{"name":"Аутосомно-рецесивний епідермолітичний іхтіоз","synonyms":["AREI"],"definition":"A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure."},"zh":{"name":"常染色体隐性表皮松解性鱼鳞病","synonyms":["AREI"]},"tr":{"name":"Otozomal resesif epidermolitik iktiyoz","synonyms":["AREI"]}},"xrefs":[{"source":"OMIM","code":"620707","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"244597687"},{"source":"MONDO","code":"0044742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437635","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":"KRT10","name":"keratin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21271994[PMID]_23957016[PMID]","hgnc":"6413","ensembl":"ENSG00000186395","omim":"148080","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}