{"orpha":817,"name":"Peeling skin syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Deciduous skin","Familial continuous skin peeling syndrome","Idiopathic deciduous skin","Keratosis exfoliativa congenita","PSS","Peeling skin disease"],"definition":"A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-817/","orphanet_url":"https://www.orpha.net/en/disease/detail/817","names":{"fr":{"name":"Peeling skin syndrome","synonyms":["Keratosis exfoliativa congenita","PSS","Peau déciduale"],"definition":"Groupe de formes rares d'ichtyose autosomique récessive caractérisée, sur le plan clinique, par une desquamation superficielle, asymptomatique et spontanée de la peau et, sur le plan histologique, par une desquamation des couches les plus superficielles de l'épiderme. Le PSS présente une distribution acrale (PSS type acral) ou généralisée pour le PSS de type A (non inflammatoire) ou B (inflammatoire)."},"de":{"name":"Peeling Skin-Syndrom","synonyms":["Abschälende Haut","Familiäres fortdauerndes Peeling Skin-Syndrom","Hautablösung, idiopathische","Keratosis exfoliativa congenita","PSS","Peeling Skin-Krankheit","Schalenhaut-Syndrom"],"definition":"Das Peeling Skin-Syndrom (PSS) bezeichnet eine Gruppe von seltenen, autosomal-rezessiven Formen von Ichthyose. Klinisch ist sie gekennzeichnet durch oberflächliche, beschwerdefrei spontane Abschälung der Haut, histologisch durch Abwerfen der äußeren Epidermisschichten. Das PSS betrifft entweder lokalisiert die Akren (akrales PSS) oder tritt generalisiert in 2 Formen auf: Typ A (nicht-entzündlich) oder Typ B (entzündlich)."},"es":{"name":"Síndrome de descamación cutánea","synonyms":["Enfermedad de descamación de la piel","PSS","Piel decidual","Piel decidual idiopática","Queratosis exfoliativa congénita","Síndrome de descamación continua de la piel familiar"],"definition":"Es un grupo de formas autosómicas recesivas poco frecuentes de ictiosis caracterizadas clínicamente por descamación superficial, asintomática y espontánea de la piel e histológicamente por un desprendimiento de las capas externas de la epidermis. El PSS se presenta con una distribución acral (PSS acral) o diseminada en el PSS generalizado tipo A (no inflamatorio) o B (inflamatorio)."},"it":{"name":"Sindrome da desquamazione cutanea","synonyms":["Cheratolisi esfoliativa congenita","Malattia da desquamazione cutanea","PSS","Pelle deciduale","Pelle deciduale idiopatica","Sindrome familiare da desquamazione cutanea continua"],"definition":"La sindrome da desquamazione cutanea (PSS) comprende un gruppo di ittiosi rare autosomiche recessive (si veda questo termine) caratterizzato, dal punto di vista clinico, dalla desquamazione cutanea superficiale, asintomatica e spontanea e, dal punto di vista istologico, dalla caduta degli strati più esterni dell'epidermide. La PSS può avere sia una distribuzione acrale (PSS acrale) che generalizzata (PSS generalizzata tipo A [non infiammatorio] o B [infiammatorio]) (si vedano questi termini). Alcuni casi sono difficili da classificare e questo farebbe ipotizzare l'esistenza di ulteriori sottotipi della PSS."},"nl":{"name":"'Peeling skin'-syndroom","synonyms":["'Peeling skin'-ziekte","Afschilferende huid","Familiaal continu afschilferende huid-syndroom","Idiopathische afschilferende huid","Keratosis exfoliativa congenita","PSS"],"definition":"Een groep van zeldzame autosomaal recessieve vormen van ichthyosis, klinisch gekenmerkt door oppervlakkig, asymptomatisch en spontaan afschilferen van huid, en histologisch gekenmerkt door afschilfering van de buitenste lagen van epidermis. Peeling skin-syndroom (PSS) vertoont acrale (acraal PSS) of gegeneraliseerde distributie (gegeneraliseerd PSS type A (niet-inflammatoir) of B (inflammatoir))."},"pt":{"name":"Síndrome pele descascada","synonyms":["Pele decícua"],"definition":"Grupo de formas autossómicas recessivas raras de ictiose caracterizadas clinicamente por descamação superficial, assintomática e espontânea da pele e histologicamente por descamação das camadas externas da epiderme. PSS apresenta uma distribuição acral (PSS acral) ou generalizada para PSS generalizada tipo A (não inflamatória) ou B (inflamatória)."},"pl":{"name":"Zespół złuszczającej się skóry","synonyms":["Skóra liściasta"],"definition":"Grupa rzadko występujących postaci rybiej łuski o dziedziczeniu autosomalnym recesywnym, klinicznie charakteryzująca się powierzchownym, samoistnym złuszczaniem skóry, zaś na poziomie histologicznym - złuszczaniem zewnętrznych warstw naskórka. PSS objawia się dystalnym albo uogólnionym rozkładem zmian, wyróżnia się typ A (niezapalny) i B (zapalny)."},"cs":{"name":"Syndrom olupování kůže","synonyms":["Keratolysis exfoliativa","Keratosis exfoliativa congenita","PSS","Familiární trvalý syndrom olupování kůže","Idiopatická opadavá kůže","Nemoc olupování kůže"]},"uk":{"name":"Синдром лущення шкіри","synonyms":["Листяна шкіра","Сімейний синдром безперервного лущення шкіри","Ідіопатичне висихання шкіри","Вроджений ексфоліативний кератоз","Лущення шкіри","PSS"],"definition":"A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory)."},"zh":{"name":"皮肤剥离综合征","synonyms":["家族性持续皮肤剥离综合征"]},"tr":{"name":"Peeling cilt sendromu","synonyms":["PSS","Belirli mevsimlerde dökülen cilt","Cilt soyulması hastalığı","İdiyopatik belirli mevsimlerde dökülen cilt","Keratoz eksfoliativa konjenita","Ailesel sürekli cilt soyulması sendromu"]}},"xrefs":[{"source":"ICD-11","code":"EC20.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"523640904"},{"source":"MONDO","code":"0019347","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19347","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849193","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]}],"children":[{"orpha":263534,"name":"Acral peeling skin syndrome","type":"Disease"},{"orpha":263543,"name":"Generalized peeling skin syndrome","type":"Disease"}],"genes":[],"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}