{"orpha":263543,"name":"Generalized peeling skin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Generalized deciduous skin","Generalized PSS"],"definition":"A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263543/","orphanet_url":"https://www.orpha.net/en/disease/detail/263543","names":{"fr":{"name":"Peeling skin syndrome généralisé","synonyms":["PSS généralisé","Peau déciduale généralisée"],"definition":"Forme de peeling skin syndrome caractérisée par une distribution généralisée. Elle comprend deux sous-types : la forme non inflammatoire (PSS type A) et la forme inflammatoire (PSS type B). Le PSS type A se caractérise par une desquamation généralisée constituée de squames blanches et un peeling superficiel non inflammatoire de la peau, alors que le PSS type B se caractérise par un peeling superficiel localisé affectant toute la surface cutanée avec une érythrodermie sous-jacente, un prurit et une atopie."},"de":{"name":"Peeling-Skin-Syndrom, generalisiertes","synonyms":["Generalisiertes PSS","Hautablösung, generalisierte"],"definition":"Eine Form des Peeling Skin-Syndroms (PSS), die durch eine generalisierte Verteilung gekennzeichnet ist. Es umfasst zwei Subtypen: die nicht-entzündliche (PSS Typ A) und die entzündliche (PSS Typ B) Form. PSS Typ A ist durch eine generalisierte weiße Schuppung mit oberflächlicher, nicht-entzündlicher Abschälung der Haut gekennzeichnet, während PSS Typ B durch eine oberflächliche, fleckige Abschälung der gesamten Haut mit darunterliegender Erythrodermie, Pruritus und Atopie gekennzeichnet ist."},"es":{"name":"Síndrome de descamación cutánea generalizada","synonyms":["PSS generalizado","Piel decidual generalizada"],"definition":"Es una forma de síndrome de descamación de la piel caracterizado por una distribución generalizada. Comprende dos subtipos: la forma no inflamatoria (PSS tipo A) y la inflamatoria (PSS tipo B). El PSS tipo A se caracteriza por descamación blanca generalizada con descamación superficial no inflamatoria de la piel, mientras que el PSS tipo B se caracteriza por descamación superficial en parches de toda la piel con eritrodermia subyacente, prurito y atopia."},"it":{"name":"Sindrome da desquamazione cutanea generalizzata","synonyms":["PSS generalizzata","Pelle deciduale generalizzata"],"definition":"La sindrome generalizzata da desquamazione cutanea (PSS) è una forma di PSS (si veda questo termine) che ha una distribuzione generalizzata. Si suddivide in due sottotipi: la forma non infiammatoria (PSS tipo A) e la forma infiammatoria (PSS tipo B) (si vedano questi termini). La PSS tipo A è caratterizzata dalla formazione generalizzata di squame bianche con desquamazione cutanea superficiale, mentre la PSS tipo B è caratterizzata da desquamazione superficiale a chiazze su tutta la superficie cutanea, con sottostante eritroderma associato a prurito e atopia."},"nl":{"name":"Gegeneraliseerde 'peeling skin'-syndroom","synonyms":["Gegeneraliseerde PSS","Gegeneraliseerde afschilferende huid"],"definition":"Een vorm van peeling skin-syndroom, gekenmerkt door een gegeneraliseerde verdeling. Er bestaan twee subtypes: de niet-inflammatoire (PSS type A) en de inflammatoire (PSS type B) vorm. PSS type A wordt gekenmerkt door gegeneraliseerde witte schilfering met oppervlakkige niet-inflammatoire afschilfering van huid, terwijl PSS type B wordt gekenmerkt door oppervlakkige pleksgewijze afschilfering van gehele huid met onderliggende erytrodermie, pruritus, en atopie."},"pt":{"name":"Síndrome de pele descamativa generalizado","definition":"Forma da síndrome de descamação da pele caracterizada por uma distribuição generalizada. Compreende dois subtipos: a forma não inflamatória (PSS tipo A) e a inflamatória (PSS tipo B). PSS tipo A é caracterizada por descamação branca generalizada com descamação superficial não inflamatória da pele, enquanto a PSS tipo B é caracterizada por descamação superficial irregular de toda a pele com eritrodermia, prurido e atopia subjacentes."},"pl":{"name":"Uogólniony zespół złuszczania się skóry","synonyms":["Generalized deciduous skin","Generalized PSS"],"definition":"Postać zespołu złuszczającej się skóry, charakteryzująca się uogólnioną dystrybucją zmian. Wyróżnia się dwa podtypy: postać niezapalną (PSS typ A) i zapalną (PSS typ B). PSS typu A charakteryzuje się uogólnionym występowaniem zmian skórnych pod postacią białej łuski z powierzchownym niezapalnym złuszczaniem skóry, podczas gdy PSS typu B charakteryzuje się powierzchownym, niejednolitym złuszczaniem całej skóry z towarzyszącą erytrodermią, świądem i atopią."},"cs":{"name":"Generalizovaný syndrom loupající se kůže","synonyms":["Generalizovaný PSS","Generalizovaná opadavá kůže"]},"uk":{"name":"Синдром генералізованого лущення шкіри","synonyms":["Генералізований лишай","Узагальнена ПСС"],"definition":"A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy."},"zh":{"name":"全身皮肤剥脱综合征","synonyms":["广泛性皮肤剥脱"],"definition":"泛发性脱皮综合征(PSS)是PSS(见该词条)的一种形式，呈广泛分布。它包括两个亚型：非炎症型(PSSA型)和炎症型(PSSB型)(参见该类词条)。A型PSS的特点是全身白色鳞屑伴皮肤浅层脱皮，而B型PSS的特点是整个皮肤浅层片状脱皮，伴有红皮病、瘙痒和特应性。"},"tr":{"name":"Jeneralize cilt soyulması sendromu","synonyms":["PSS","Jeneralize deri dökülmesi"]}},"xrefs":[{"source":"OMIM","code":"270300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616265","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":"attributed","validated":true},{"source":"MONDO","code":"0010033","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305156","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12862","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":263558,"name":"OBSOLETE: Peeling skin syndrome type C","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":817,"name":"Peeling skin syndrome","classifications":[156,187]}],"children":[{"orpha":263548,"name":"Peeling skin syndrome type A","type":"Clinical subtype"},{"orpha":263553,"name":"Peeling skin syndrome type B","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":263548,"name":"Peeling skin syndrome type A"}},{"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"],"via":{"orpha":263548,"name":"Peeling skin syndrome type A"}},{"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"],"via":{"orpha":263548,"name":"Peeling skin syndrome type A"}},{"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"],"via":{"orpha":263553,"name":"Peeling skin syndrome type B"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}