{"Name":"Peeling skin syndrome","DiseaseID__c":"GARD:0007347","id":7347,"encodedName":"peeling-skin-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Peeling skin syndrome","Xref_IDs__c":"239065004; C1849193; DOID:0060283; MEDGEN:336530; MONDO:0019347; OMIMPS:270300; ORPHA:817","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019347","Disease_Description__c":"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).","GARD_Name__c":"Peeling skin syndrome","GARD_Synonym__c":"deciduous skin; familial continuous skin peeling syndrome; hereditary skin peeling syndrome; idiopathic deciduous skin; keratosis exfoliativa congenita; peeling skin disease; pss","Curated_Disease_Description_Source__c":"GARD:0007347","Curated_Disease_Description__c":"Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can appear anytime from birth to adulthood, but usually occur by childhood. There are two forms of PSS. In the generalized form, skin peeling involves most of the body. The generalized form has two subtypes, noninflammatory and inflammatory. There is an acral form in which skin peeling is limited to the hands and feet. PSS is caused by genetic variants in several different genes and is inherited in an autosomal recessive pattern of inheritance. PSS is diagnosed based on the symptoms. Other more common conditions may need to be excluded.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:817","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019347","ORPHANET_ID__c":"ORPHA:817","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de descamación cutánea","Spanish_Description_Source__c":"ORPHA:817","Spanish_Description__c":"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).","Spanish_Disease_Name__c":"síndrome de descamación cutánea","Spanish_GARD_Synonym__c":"enfermedad de descamación de la piel; piel decidual; piel decidual idiopática; pss; queratosis exfoliativa congénita; síndrome de descamación continua de la piel familiar","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can appear anytime from birth to adulthood, but usually occur by childhood. There are two forms of PSS. In the generalized form, skin peeling involves most of the body. The generalized form has two subtypes, noninflammatory and inflammatory. There is an acral form in which skin peeling is limited to the hands and feet. PSS is caused by genetic variants in several different genes and is inherited in an autosomal recessive pattern of inheritance. PSS is diagnosed based on the symptoms. Other more common conditions may need to be excluded.","Curated_Disease_Description_Source__c":"GARD:0007347","GARD_Synonym__c":"deciduous skin; familial continuous skin peeling syndrome; hereditary skin peeling syndrome; idiopathic deciduous skin; keratosis exfoliativa congenita; peeling skin disease; pss","Name":"Peeling skin syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:817"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:817"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS270300","Source__c":"MONDO:0019347","Xref__c":"OMIMPS:270300"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060283","Source__c":"MONDO:0019347","Xref__c":"DOID:0060283"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239065004","Source__c":"MONDO:0019347","Xref__c":"239065004"},{"URL__c":"https://www.orpha.net/en/disease/detail/817","Source__c":"C1849193; MONDO:0019347; ORPHA:817","Xref__c":"ORPHA:817"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019347","Source__c":"GARD:0007347","Xref__c":"MONDO:0019347"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724838009","Source__c":"C1849193","Xref__c":"724838009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849193","Source__c":"C1849193","Xref__c":"C1849193"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336530","Source__c":"C1849193","Xref__c":"MEDGEN:336530"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["deciduous skin"," familial continuous skin peeling syndrome"," hereditary skin peeling syndrome"," idiopathic deciduous skin"," keratosis exfoliativa congenita"," peeling skin disease"," pss"]}