{"orpha":1954,"name":"Congenital lethal erythroderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1954/","orphanet_url":"https://www.orpha.net/en/disease/detail/1954","names":{"fr":{"name":"Erythrodermie congénitale létale","definition":"Une maladie rare cutanée caractérisée par une peau érythrodermique desquamante dès la naissance, en absence d'anomalie unguéale ou capillaire. Les autres anomalies associées incluent une diarrhée, un retard de croissance staturo-pondérale et une hypoalbuminémie sévère résistante à la correction par supplémentation entérale ou intraveineuse. La maladie se transmet très probablement selon un mode autosomique récessif. Le pronostic est pauvre et la maladie est fatale chez les nourrissons au cours des premiers mois de vie. Il n'y a pas eu de description ultérieure dans la littérature depuis 1992."},"de":{"name":"Erythrodermie, kongenitale letale"},"es":{"name":"Eritrodermia congénita letal","definition":"Es un trastorno de la piel poco frecuente caracterizado por una descamación cutánea eritrodérmica desde el nacimiento sin anomalías patentes en las uñas o el tallo capilar, y asociado a otras anomalías tales como diarrea, fallo de medro y grave hipoalbuminemia resistente a la corrección por suplementación enteral o intravenosa. Probablemente el trastorno sigue un patrón de herencia autosómico recesivo. El pronóstico es desfavorable y los lactantes fallecen en los primeros meses de vida. No ha habido más casos descritos en la literatura desde 1992."},"it":{"name":"Eritroderma congenito letale"},"nl":{"name":"Congenitale letale erytrodermie","definition":"Een zeldzame huidaandoening gekarakteriseerd door erytrodermische, afschilferende huid vanaf de geboorte, zonder duidelijke afwijkingen van nagels of haarschachten, en andere geassocieerde anomalieën waaronder diarree, groeifalen en ernstige hypoalbuminemie resistent tegen correctie met enterale of intraveneuze supplementen. Een autosomaal recessieve manier van overerving is hoogst waarschijnlijk. De prognose is slecht en zuigelingen sterven tijdens de eerste levensmaanden. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Eritrodermia letal congénita"},"pl":{"name":"Wrodzona letalna erytrodermia"},"cs":{"name":"Vrozená letální erytrodermie"},"uk":{"name":"Вроджена летальна еритродермія","definition":"A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992."},"zh":{"name":"先天性致死性红皮病"},"tr":{"name":"Doğumsal letal eritrodermi"}},"xrefs":[{"source":"OMIM","code":"227090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L21.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EH40.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535513","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79385,"name":"Unclassified genetic skin disorder","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"1535034[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1535034[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007381","label":"Congenital exfoliative erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null}]}}