{"Name":"Porokeratosis 4, disseminated superficial actinic type","DiseaseID__c":"GARD:0009504","id":9504,"encodedName":"porokeratosis-4-disseminated-superficial-actinic-type","IsDeleted":false,"Disease_Name_Full__c":"Porokeratosis 4, disseminated superficial actinic type","Xref_IDs__c":"C1843180; MEDGEN:335900; MONDO:0011900; OMIM:607728","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:607728","Disease_Description__c":"Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course ({1:Schamroth et al., 1997}). However, as noted by {2:Sybert (2010)}, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial.\\n\\nDisseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by {3:Wu et al., 2004} and {6:Zhang et al., 2012}).\\n\\nFor a discussion of genetic heterogeneity of porokeratosis, see {175800}.","GARD_Name__c":"Porokeratosis 4, disseminated superficial actinic type","GARD_Synonym__c":"porok4; porokeratosis 4, disseminated superficial actinic; porokeratosis, disseminated superficial actinic 2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Porokeratosis 4, disseminated superficial actinic type is a rare skin disorder that causes one or more raised, ring-shaped patches on the skin. These patches have a scaly border and spread outwards. There are different types of porokeratosis that can look different and affect people in different ways. Disseminated superficial actinic porokeratosis (DSAP) is the most common type. It causes small, raised, scaly patches on sun-exposed areas of the skin, like the face, neck, and limbs. DSAP usually starts in adolescence and can continue into adulthood. It is not contagious. Porokeratosis can be caused by genetic factors, but more research is needed to understand this.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:607728","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011900","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Porokeratosis 4, disseminated superficial actinic type is a rare skin disorder that causes one or more raised, ring-shaped patches on the skin. These patches have a scaly border and spread outwards. There are different types of porokeratosis that can look different and affect people in different ways. Disseminated superficial actinic porokeratosis (DSAP) is the most common type. It causes small, raised, scaly patches on sun-exposed areas of the skin, like the face, neck, and limbs. DSAP usually starts in adolescence and can continue into adulthood. It is not contagious. Porokeratosis can be caused by genetic factors, but more research is needed to understand this.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"porok4; porokeratosis 4, disseminated superficial actinic; porokeratosis, disseminated superficial actinic 2","Name":"Porokeratosis 4, disseminated superficial actinic type","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009504","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335900","Source__c":"C1843180","Xref__c":"MEDGEN:335900"},{"URL__c":"https://www.omim.org/entry/607728","Source__c":"C1843180; MONDO:0011900","Xref__c":"OMIM:607728"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843180","Source__c":"C1843180","Xref__c":"C1843180"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011900","Source__c":"GARD:0009504","Xref__c":"MONDO:0011900"}],"tags":{},"synonyms":["porok4"," porokeratosis 4, disseminated superficial actinic"," porokeratosis, disseminated superficial actinic 2"]}