{"orpha":263548,"name":"Peeling skin syndrome type A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Generalized peeling skin syndrome type A","Non-inflammatory generalized peeling skin syndrome type A.","Non-inflammatory peeling skin syndrome type A","PSS type A"],"definition":"A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263548/","orphanet_url":"https://www.orpha.net/en/disease/detail/263548","names":{"fr":{"name":"Peeling skin syndrome type A","synonyms":["PSS type A","Peeling skin syndrome généralisé non inflammatoire type A","Peeling skin syndrome généralisé type A","Peeling skin syndrome non inflammatoire type A"],"definition":"Forme non inflammatoire de PSS (pour peeling skin syndrome) de distribution généralisée, caractérisée par une desquamation superficielle et indolore de la peau, constituée de squames blanches."},"de":{"name":"Peeling-Skin-Syndrom Typ A","synonyms":["PSS Typ A","Peeling-Skin-Syndrom Typ A, nicht-inflammatorisches","Peeling-Skin-Syndrom, generalisiertes, Typ A"],"definition":"Das Peeling Skin-Syndrom (PSS) Typ A ist eine nicht-entzündliche Form des generalisierten PSS mit generalisierter weißer Schuppung und oberflächlicher schmerzloser Abschälung der Haut."},"es":{"name":"Síndrome de descamación cutánea tipo A","synonyms":["PSS tipo A","Síndrome no inflamatorio de descamación de la piel tipo A","Síndrome no inflamatorio de descamación generalizada de la piel tipo A"],"definition":"Es una forma generalizada no inflamatoria de PSS (síndrome de descamación cutánea; por sus siglas en inglés) caracterizada por la presencia de escamas blanquecinas y descamación cutánea superficial e indolora."},"it":{"name":"Sindrome da desquamazione cutanea tipo A","synonyms":["PSS tipo A","PSS, tipo A","Pelle deciduale generalizzata, tipo A","Sindrome da desquamazione cutanea generalizzata tipo A","Sindrome da desquamazione cutanea generalizzata, tipo A","Sindrome non infiammatoria da desquamazione cutanea tipo A","Sindrome non infiammatoria da desquamazione cutanea, tipo A"],"definition":"La sindrome da desquamazione cutanea (PSS) tipo A è una forma non infiammatoria della PSS generalizzata (si veda questo termine), una forma di ittiosi (si veda questo termine), caratterizzata dalla formazione generalizzata di squame bianche e dalla desquamazione cutanea superficiale indolore."},"nl":{"name":"'Peeling skin'-syndroom type A","synonyms":["Gegeneraliseerde 'peeling skin'-syndroom type A","Niet-inflammatoire 'peeling skin'-syndroom type A","Niet-inflammatoire gegeneraliseerde 'peeling skin'-syndroom type A","PSS type A"],"definition":"Een niet-inflammatoire vorm van gegeneraliseerde PSS, gekenmerkt door witte schilfers en oppervlakkige, pijnloze afschilfering van huid."},"pt":{"name":"Síndrome de pele descamativa tipo A","synonyms":["PSS tipo A","Síndrome de pele descamativa generalizada tipo A","Síndrome de pele descamativa não-inflamatória generalizada tipo A","Síndrome de pele descamativa não-inflamatória tipo A"],"definition":"Forma não inflamatória de síndrome de pele descamativa (SPD) generalizada caracterizada por descamação branca, superficial e indolor da pele."},"pl":{"name":"Uogólniony zespół złuszczania się skóry typu A","synonyms":["Zespół złuszczania skóry typu A"]},"cs":{"name":"Syndrom loupající se kůže, typ A","synonyms":["PSS typ A","Generalizovaná opadavá kůže, typ A","Generalizovaný syndrom loupající se kůže, typ A","Nezánětlivý generalizovaný syndrom loupající se kůže, typ A","Nezánětlivý syndrom loupající se kůže, typ A"]},"uk":{"name":"Синдром лущення шкіри, тип А","synonyms":["Синдром генералізованого лущення шкіри типу А","Незапальний синдром генералізованого лущення шкіри типу А.","Синдром незапального лущення шкіри типу А","PSS тип A"],"definition":"A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin."},"zh":{"name":"皮肤剥脱综合征A型","synonyms":["非炎性广泛性皮肤剥脱综合征A.型"],"definition":"A型脱皮综合征(PSS)是一种全身性PSS(见该词条)的非炎症性形式，是鱼鳞病(见该词条)的一种类型，其特征是全身白斑和皮肤表面无痛性脱皮。"},"tr":{"name":"Peeling cilt sendromu tip A","synonyms":["PSS tip A","Jeneralize deri dökülmesi tip A","Jeneralize cilt soyulması sendromu tip A","İnflamatuar olmayan cilt soyulması sendromu tip A","İnflamatuar olmayan jeneralize cilt soyulması sendromu tip A."]}},"xrefs":[{"source":"OMIM","code":"616265","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617115","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618084","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1307732876"},{"source":"MONDO","code":"0014555","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679692","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":263543,"name":"Generalized peeling skin syndrome","classifications":[156,187]}],"children":[],"genes":[{"symbol":"CHST8","name":"carbohydrate sulfotransferase 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22289416[PMID]","hgnc":"15993","ensembl":"ENSG00000124302","omim":"610190","loci":["19q13.11"]},{"symbol":"FLG2","name":"filaggrin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28884927[PMID]","hgnc":"33276","ensembl":"ENSG00000143520","omim":"616284","loci":["1q21.3"]},{"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":"Cases/families","qualification":"Family(ies)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}