{"Name":"Cutaneous nodular amyloidosis","DiseaseID__c":"GARD:0010562","id":10562,"encodedName":"cutaneous-nodular-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"Cutaneous nodular amyloidosis","Xref_IDs__c":"716704007; C4274331; HP:0032348; MEDGEN:900275; MONDO:0015302; ORPHA:137810","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015302","Disease_Description__c":"Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms).","GARD_Name__c":"Cutaneous nodular amyloidosis","GARD_Synonym__c":"amyloidosis cutis nodularis atrophicans; amyloidosis nodular localised cutaneous; amyloidosis nodular localized cutaneous; nlca; nodular amyloidosis; nodular cutaneous amyloidosis; plcna; plcna - primary localized cutaneous nodular amyloidosis; primary localised cutaneous nodular amyloidosis; primary localized cutaneous nodular amyloidosis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Nodular cutaneous amyloidosis is a rare skin disease where there is an abnormal buildup of anyloids (insoluble protein fibrils) in the skin. It is characterized by yellowish waxy crusted nodules and papules on the face, legs, trunk, scalp, and genitalia. Primary localized cutaneous nodular amyloidosis (PLCNA) is the rarest form of primary cutaneous amyloidosis. PLCNA can be associated with connective tissue disorders such as Sjögren's syndrome and CREST syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:137810","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015302","ORPHANET_ID__c":"ORPHA:137810","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis cutánea nodular","Spanish_Description_Source__c":"ORPHA:137810","Spanish_Description__c":"La amiloidosis nodular cutánea localizada primaria (PLCNA) es la forma menos frecuente de la amiloidosis cutánea primaria (consulte este término), una enfermedad de la piel con acumulación de depósitos amiloides en la dermis, y se caracteriza clínicamente por nódulos y pápulas amarillentas de costra cerosa en la cara, las extremidades inferiores, el tronco, el cuero cabelludo y los genitales, e histológicamente por depósitos amiloides localizados derivados de inmunoglobulina en la dermis papilar y el subcutis. La PLCNA puede estar asociada con trastornos del tejido conectivo tales como el síndrome de Sjögren y el síndrome CREST (consulte estos términos).","Spanish_Disease_Name__c":"amiloidosis cutánea nodular","Spanish_GARD_Synonym__c":"amiloidosis nodular primaria cutánea localizada; plcna","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":"Nodular cutaneous amyloidosis is a rare skin disease where there is an abnormal buildup of anyloids (insoluble protein fibrils) in the skin. It is characterized by yellowish waxy crusted nodules and papules on the face, legs, trunk, scalp, and genitalia. Primary localized cutaneous nodular amyloidosis (PLCNA) is the rarest form of primary cutaneous amyloidosis. PLCNA can be associated with connective tissue disorders such as Sjögren's syndrome and CREST syndrome.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"amyloidosis cutis nodularis atrophicans; amyloidosis nodular localised cutaneous; amyloidosis nodular localized cutaneous; nlca; nodular amyloidosis; nodular cutaneous amyloidosis; plcna; plcna - primary localized cutaneous nodular amyloidosis; primary localised cutaneous nodular amyloidosis; primary localized cutaneous nodular amyloidosis","Name":"Cutaneous nodular amyloidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Amyloidosis Support Groups Inc.","Website__c":"https://www.amyloidosissupport.org/"}],"GARD_Disease_Tag__c":[{"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://uts.nlm.nih.gov/uts/umls/concept/C4274331","Source__c":"C4274331","Xref__c":"C4274331"},{"URL__c":"https://www.orpha.net/en/disease/detail/137810","Source__c":"MONDO:0015302","Xref__c":"ORPHA:137810"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716704007","Source__c":"C4274331; MONDO:0015302","Xref__c":"716704007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=900275","Source__c":"C4274331","Xref__c":"MEDGEN:900275"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015302","Source__c":"GARD:0010562","Xref__c":"MONDO:0015302"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032348","Source__c":"C4274331","Xref__c":"HP:0032348"}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["amyloidosis cutis nodularis atrophicans"," amyloidosis nodular localised cutaneous"," amyloidosis nodular localized cutaneous"," nlca"," nodular amyloidosis"," nodular cutaneous amyloidosis"," plcna"," plcna - primary localized cutaneous nodular amyloidosis"," primary localised cutaneous nodular amyloidosis"," primary localized cutaneous nodular amyloidosis"]}