{"orpha":289586,"name":"Exfoliative ichthyosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive exfoliative ichthyosis","Ichthyosis exfoliativa"],"definition":"Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289586/","orphanet_url":"https://www.orpha.net/en/disease/detail/289586","names":{"fr":{"name":"Ichtyose exfoliative","synonyms":["Ichtyose exfoliative autosomique récessive"],"definition":"L'ichtyose exfoliative est un trouble ichtyosique congénital héréditaire, non syndromique. Elle se caractérise par l'apparition pendant la petite enfance d'une desquamation cutanée palmoplantaire (aggravée par l'exposition à l'eau et par l'occlusion), associée à une peau sèche, écailleuse sur une grande partie du corps. Un prurit et une hypohidrose peuvent aussi être associés. Des zones bien délimitées de peau sans desquamation sont trouvées dans les régions humides et traumatisées. Les biopsies cutanées révèlent une diminution de l'adhérence cellule-cellule dans les couches basales et suprabasales, un oedème intercellulaire proéminent, de nombreux agrégats de filaments de kératine dans les kératinocytes basaux, une atténuation des enveloppes de cellules cornées, et une atteinte de la barrière épidermique."},"de":{"name":"Ichthyose, exfoliative","synonyms":["Ichthyose, exfoliative, autosomal-rezessive"],"definition":"Die exfoliative Ichthyose ist eine vererbte, nicht-syndromale, kongenitale Ichthyose-Erkrankung, die durch das im Säuglingsalter einsetzende palmoplantare Abschälen der Haut (verschlimmert durch Wassereinwirkung und durch Abdeckung) in Verbindung mit trockener, schuppiger Haut über den größten Teil des Körpers gekennzeichnet ist. Juckreiz und Hypohidrose können ebenfalls assoziiert sein. Gut abgegrenzte Bereiche denudierter Haut erscheinen in feuchten und traumatisierten Regionen und Hautbiopsien zeigen eine reduzierte Zell-Zell-Adhäsion in den basalen und suprabasalen Schichten, ein ausgeprägtes interzelluläres Ödem, zahlreiche Aggregate von Keratinfilamenten in basalen Keratinozyten, abgeschwächte verhornte Zellhüllen und eine Beeinträchtigung der epidermalen Barriere."},"es":{"name":"Ictiosis exfoliante","synonyms":["Ictiosis exfoliante autosómica recesiva","Ictiosis exfoliativa"],"definition":"La ictiosis exfoliativa es un tipo de ictiosis congénita, no-sindrómica, hereditaria, caracterizada por la aparición en la lactancia de descamación palmoplantar de la piel (agravada por la exposición al agua y por oclusión) asociada con piel escamosa y seca en la mayor parte del cuerpo. También puede estar asociada a prurito e hipohidrosis. En las regiones húmedas y dañadas aparecen áreas bien demarcadas de piel denudada y las biopsias de piel revelan una reducción de la adhesión intercelular en las capas basal y suprabasal, edema intercelular prominente, numerosos agregados de filamentos de queratina en queratinocitos basales, envolturas celulares cornificadas atenuadas y alteración de la barrera cutánea."},"it":{"name":"Ittiosi esfoliativa","synonyms":["Ittiosi esfoliativa autosomica recessiva"],"definition":"L'ittiosi esfoliativa è una forma di ittiosi congenita ereditaria non sindromica, caratterizzata dalla desquamazione della cute palmo-plantare ad esordio infantile (aggravata dall'esposizione all'acqua e dall'occlusione), associata a cute molto secca e desquamata su gran parte del corpo. Può associarsi a prurito e ipoidrosi. Nelle aree umide e sottoposte a traumi si osservano zone ben delimitate di cute disepitelizzata; la biopsia cutanea evidenzia una riduzione dell'adesione cellula-cellula nello strato basale e soprabasale, un evidente edema intracellulare, numerosi aggregati di filamenti di cheratina nei cheratinociti basali, membrane cellulari cheratinizzate attenuate e una compromissione della barriera epidermica."},"nl":{"name":"Exfoliatieve ichthyosis","synonyms":["Autosomaal recessieve exfoliatieve ichthyosis","Ichthyosis exfoliativa"],"definition":"Exfoliatieve ichthyosis is een erfelijke, niet-syndromale, congenitale ichthyosis die wordt gekarakteriseerd door aanvang in de zuigelingentijd van palmoplantaire afschilfering van de huid (verergert bij blootstelling aan water en bij occlusie), geassocieerd met een droge, schilferige huid op nagenoeg het hele lichaam. Pruritus en hypohidrose kunnen ook geassocieerd zijn. Er verschijnen goed begrensde gebieden van gedenudeerde huid in vochtige en getraumatiseerde regio's en biopsie van de huid toont gereduceerde cel-cel adhesie in de basale en suprabasale lagen, prominent intercellulair oedeem, talrijke aggregaten van keratinefilamenten in basale keratinocyten, verzwakte verhoornde celenveloppen, en aantasting van de epidermale barrière."},"pt":{"name":"Ictiose exfoliativa","synonyms":["Ictiose exfoliativa, autossómica recessiva"]},"pl":{"name":"Rybia łuska złuszczająca","synonyms":["Autosomalna recesywna rybia łuska złuszczajaca"]},"cs":{"name":"Exfoliativní ichtyóza","synonyms":["Autozomálné recesivní exfoliativní ichtyóza","Ichtyosis exfoliativa"]},"uk":{"name":"Ексфоліативний іхтіоз","synonyms":["Аутосомно-рецесивний ексфоліативний іхтіоз","Відлущувальний іхтіоз"],"definition":"Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment."},"zh":{"name":"剥脱性鱼鳞病","synonyms":["常染色体隐性遗传剥脱性鱼鳞病"],"definition":"剥脱性鱼鳞病是一种遗传性、非综合征性、先天性鱼鳞病，其特征是婴儿期出现掌跖部皮肤剥脱（因暴露于水和闭塞而加重），与身体大部分部位干燥、鳞状皮肤有关。也可能和瘙痒、少汗也相关。在潮湿和创伤区出现界限清晰的裸露皮肤，皮肤活检显示基底层和基底上层细胞间粘附减少，细胞间水肿明显，基底角质形成细胞中大量角蛋白丝聚集，角质化细胞包膜变薄，表皮屏障受损。"},"tr":{"name":"Eksfolyatif iktiyoz","synonyms":["İktiyoz eksfoliatif","Otozomal çekinik eksfolyatif iktiyoz"]}},"xrefs":[{"source":"OMIM","code":"607936","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617115","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563978","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838440","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281097,"name":"Autosomal recessive congenital ichthyosis","classifications":[147,156,187,189]},{"orpha":250811,"name":"Serpinopathy with loss of serpin function","classifications":[156]}],"children":[],"genes":[{"symbol":"CSTA","name":"cystatin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21944047[PMID]","hgnc":"2481","ensembl":"ENSG00000121552","omim":"184600","loci":["3q21.1"]},{"symbol":"SERPINB8","name":"serpin family B member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27476651[PMID]","hgnc":"8952","ensembl":"ENSG00000166401","omim":"601697","loci":["18q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}