{"orpha":263534,"name":"Acral peeling skin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acral PSS","Localized PSS","PSS 2","Peeling skin syndrome 2"],"definition":"A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263534/","orphanet_url":"https://www.orpha.net/en/disease/detail/263534","names":{"fr":{"name":"Peeling skin syndrome type acral","synonyms":["PSS acral","PSS localisé","PSS2"],"definition":"Peeling skin syndrome rare caractérisé par une desquamation superficielle de la peau affectant principalement le dos des mains et des pieds."},"de":{"name":"Peeling-Skin-Syndrom, akrales","synonyms":["Akrales PSS","Lokalisiertes PSS","PSS2","Peeling Skin-Syndrom Typ 2"],"definition":"Ein seltenes Peeling Skin-Syndrom, das durch oberflächliches Schälen der Haut gekennzeichnet ist, wobei vor allem die Dorsa der Hände und Füße betroffen ist."},"es":{"name":"Síndrome de descamación cutánea acral","synonyms":["PSS 2","PSS acral","PSS localizado","Síndrome de descamación de la piel 2"],"definition":"Es un síndrome poco frecuente de descamación cutánea caracterizado por una descamación superficial de la piel que afecta predominantemente al dorso de las manos y de los pies."},"it":{"name":"Sindrome da desquamazione cutanea acrale","synonyms":["PSS acrale","PSS localizzata","PSS2","Pelle deciduale acrale","Pelle deciduale localizzata","Sindrome da desquamazione cutanea 2"],"definition":"La sindrome acrale da desquamazione cutanea (PSS) è una forma di PSS (si veda questo termine) caratterizzata da desquamazione cutanea superficiale che interessa prevalentemente il dorso delle mani e il collo dei piedi."},"nl":{"name":"Acrale 'peeling skin'-syndroom","synonyms":["'Peeling skin'-syndroom 2","Acrale PSS","Gelokaliseerde PSS","PSS2"],"definition":"Een zeldzaam 'peeling skin'-syndroom, gekenmerkt door oppervlakkige afschilfering van huid, voornamelijk aan de rugzijde van handen en voeten."},"pt":{"name":"Síndrome de pele descamativa acral","synonyms":["PSS acral","PSS localizada","PSS2","Síndrome 2 de pele descamativa"],"definition":"Síndrome rara de descamação da pele, caracterizada por descamação superficial da pele, afetando predominantemente o dorso das mãos e dos pés."},"pl":{"name":"Zlokalizowany zespół złuszczania się skóry","synonyms":["Zespół złuszczania skóry kończyn"]},"cs":{"name":"Akrální syndrom loupající se kůže","synonyms":["Akrální PSS","Lokalizovaný PSS","Akrální opadavá kůže","Lokalizovaná opadavá kůže"]},"uk":{"name":"Синдром акрального лущення шкіри","synonyms":["Acral PSS","Локалізований PSS","Синдром лущення шкіри 2","PSS 2"],"definition":"A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet."},"zh":{"name":"肢端皮肤剥脱综合征","synonyms":["局部性皮肤剥脱"],"definition":"一种罕见的脱皮综合征，特征是皮肤表面脱皮，主要影响手背和脚背。"},"tr":{"name":"Akral soyulma cilt sendromu","synonyms":["Akral PSS","Lokalize PSS","Akral deri dökülmesi","Lokalize deri dökülmesi"]}},"xrefs":[{"source":"OMIM","code":"609796","qualifier":"E","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":"1869724137"},{"source":"MONDO","code":"0012345","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853354","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12863","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078538","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":817,"name":"Peeling skin syndrome","classifications":[156,187]}],"children":[],"genes":[{"symbol":"CSTA","name":"cystatin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26684698[PMID]","hgnc":"2481","ensembl":"ENSG00000121552","omim":"184600","loci":["3q21.1"]},{"symbol":"TGM5","name":"transglutaminase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9767297[PMID]","hgnc":"11781","ensembl":"ENSG00000104055","omim":"603805","loci":["15q15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"22622422[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-24","source":"20164844[PMID]_26684698[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007605","label":"Excessive wrinkling of palmar skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null}]}}