{"orpha":263553,"name":"Peeling skin syndrome type B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Generalized peeling skin disease type B","Generalized peeling skin syndrome type B","Inflammatory peeling skin disease","Inflammatory peeling skin syndrome","PSS type B","PSS1","Peeling skin syndrome 1"],"definition":"A form of generalized peeling skin syndrome (PSS) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263553/","orphanet_url":"https://www.orpha.net/en/disease/detail/263553","names":{"fr":{"name":"Peeling skin syndrome type B","synonyms":["PSS type B","PSS1","Peeling skin syndrome généralisé type B","Peeling skin syndrome inflammatoire"],"definition":"Forme de PSS (pour peeling skin syndrome) de distribution généralisée, caractérisée par une desquamation superficielle de toute la surface cutanée et par une érythrodermie, un prurit et une atopie sous-jacents."},"de":{"name":"Peeling-Skin-Syndrom Typ B","synonyms":["PSS Typ B","PSS1","Peeling-Skin-Syndrom 1","Peeling-Skin-Syndrom Typ B, inflammatorisches","Peeling-Skin-Syndrom, generalisiertes, Typ B"],"definition":"Eine Form des generalisierten Peeling Skin-Syndroms (PSS), das durch oberflächliches, fleckiges Peeling der gesamten Haut mit Erythrodermie, Juckreiz und Atopie gekennzeichnet ist."},"es":{"name":"Síndrome de descamación cutánea tipo B","synonyms":["Enfermedad de descamación generalizada de la piel tipo B","Enfermedad inflamatoria de descamación de la piel","PSS tipo B","PSS1","Síndrome de descamación de la piel 1","Síndrome de descamación generalizada de la piel tipo B","Síndrome inflamatorio de descamación de la piel"],"definition":"Es una forma generalizada del síndrome de descamación cutánea (PSS, por sus siglas en inglés) caracterizada por una descamación superficial parcheada de toda la superficie cutánea con eritrodermia subyacente, prurito y atopia."},"it":{"name":"Sindrome da desquamazione cutanea tipo B","synonyms":["Malattia da desquamazione cutanea generalizzata tipo B","Malattia infiammatoria da desquamazione cutanea","PSS tipo B","PSS, tipo B","PSS1","Pelle deciduale generalizzata, tipo B","Sindrome da desquamazione cutanea generalizzata tipo B","Sindrome da desquamazione cutanea generalizzata, tipo B","Sindrome da desquamazione cutanea tipo 1","Sindrome infiammatoria da desquamazione cutanea"],"definition":"La sindrome da desquamazione cutanea (PSS) tipo B, o malattia cutanea desquamativa (PSD), è una forma rara di ittiosi infiammatoria caratterizzata dalla desquamazione cutanea superficiale a chiazze di tutta la superficie cutanea, associata a un sottostante eritroderma, prurito e atopia."},"nl":{"name":"'Peeling skin'-syndroom type B","synonyms":["'Peeling skin'-syndroom 1","Gegeneraliseerde 'peeling skin'-syndroom type B","Gegeneraliseerde 'peeling skin'-ziekte type B","Inflammatoire 'peeling skin'-syndroom","Inflammatoire 'peeling skin'-ziekte","PSS type B","PSS1"],"definition":"Een vorm van gegeneraliseerde 'peeling skin'-syndroom (PSS), gekenmerkt door oppervlakkige pleksgewijze afschilfering van de gehele huid met onderliggende erytrodermie, pruritus, en atopie."},"pt":{"name":"Síndrome de pele descamativa tipo B","synonyms":["Doença de pele descamativa generalizada tipo B","PSS tipo B","PSS1","Síndrome de pele descamativa 1","Síndrome de pele descamativa generalizada tipo B","Síndrome de pele descamativa inflamatória"],"definition":"Forma de síndrome de descamação cutânea (SDC) generalizada caracterizada por descamação superficial irregular de toda a pele com eritrodermia subjacente, prurido e atopia."},"pl":{"name":"Uogólniony zespół złuszczania się skóry typu B","synonyms":["Zespół złuszczania skóry typu B"]},"cs":{"name":"Syndrom loupající se kůže typ B","synonyms":["PSS typ B","Generalizovaná opadavá kůže typ B","Generalizovaný syndrom loupající se kůže typ B","Zánětlivý syndrom loupající se kůže"]},"uk":{"name":"Синдром лущення шкіри, тип В","synonyms":["Генералізоване лущення шкіри типу В","Синдром генералізованого лущення шкіри типу В","Запальне лущення шкіри","Синдром запального лущення шкіри","Синдром лущення шкіри 1","PSS тип B","PSS1"],"definition":"A form of generalized peeling skin syndrome (PSS) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy."},"zh":{"name":"皮肤剥脱综合征B型","synonyms":["广泛性皮肤剥脱综合征B型"],"definition":"B型脱皮综合征(PSS)，也称为脱皮皮肤病(PSD)，是一种罕见的炎症性鱼鳞病(见该词条)，其特征是整个皮肤表面出现斑片状脱皮，并伴有潜在的红皮病、瘙痒和特应性反应。"},"tr":{"name":"Peeling cilt sendromu tip B","synonyms":["PSS tip B","Jeneralize deri dökülmesi tip B","İnflamatuar cilt soyulması sendromu","Jeneralize cilt soyulması sendromu tip B"]}},"xrefs":[{"source":"OMIM","code":"270300","qualifier":"NTBT","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":"2101227193"},{"source":"MONDO","code":"0024548","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679693","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":"CDSN","name":"corneodesmosin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1802","ensembl":"ENSG00000204539","omim":"602593","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"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}