{"Name":"Familial pityriasis rubra pilaris","DiseaseID__c":"GARD:0024612","id":24612,"encodedName":"familial-pityriasis-rubra-pilaris","IsDeleted":false,"Disease_Name_Full__c":"Familial pityriasis rubra pilaris","Xref_IDs__c":"C2930842; C531784; MEDGEN:443914; MONDO:0008251","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008251","Disease_Description__c":"Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.","GARD_Name__c":"Familial pityriasis rubra pilaris","GARD_Synonym__c":"hereditary pityriasis rubra pilaris; prp","Curated_Disease_Description_Source__c":"MONDO:0008251","Curated_Disease_Description__c":"Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term 'pityriasis' refers to scaling; 'rubra' means redness; and 'pilaris' suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008251","ORPHANET_ID__c":"ORPHA:2897","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:2897","Spanish_Description__c":"La pitiriasis rubra pilaris es una patología papuloescamosa crónica, poco frecuente y de etiología desconocida, caracterizada por la presencia de pápulas foliculares pequeñas, placas escamosas rojo-anaranjadas y una hiperqueratosis palmoplantar, que puede progresar a la formación de placas o eritroderma. Aunque la mayor parte de los casos sean esporádicos y adquiridos, existe una forma familiar de la enfermedad.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"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":"Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term 'pityriasis' refers to scaling; 'rubra' means redness; and 'pilaris' suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.","Curated_Disease_Description_Source__c":"MONDO:0008251","GARD_Synonym__c":"hereditary pityriasis rubra pilaris; prp","Name":"Familial pityriasis rubra pilaris","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=443914","Source__c":"C2930842","Xref__c":"MEDGEN:443914"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531784","Source__c":"MONDO:0008251","Xref__c":"C531784"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2930842","Source__c":"C2930842","Xref__c":"C2930842"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris","Source__c":"GARD:0024612","Xref__c":"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008251","Source__c":"GARD:0024612","Xref__c":"MONDO:0008251"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CARD14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/card14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["hereditary pityriasis rubra pilaris"," prp"]}