{"Name":"Localized lichen myxedematosus","DiseaseID__c":"GARD:0007321","id":7321,"encodedName":"localized-lichen-myxedematosus","IsDeleted":false,"Disease_Name_Full__c":"Localized lichen myxedematosus","Xref_IDs__c":"1222586005; C5575846; MEDGEN:1802421; MONDO:0019446; ORPHA:86795","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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019446","Disease_Description__c":"A group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.","GARD_Name__c":"Localized lichen myxedematosus","GARD_Synonym__c":"focal lichen myxedematosus; localized lichenoid myxedema","Curated_Disease_Description_Source__c":"GARD:0007321","Curated_Disease_Description__c":"Localized lichen myxedematosus is a rare skin disorder characterized by deposits of mucin in the skin. The terms \"Papular mucinosis\" and \"lichen myxoedematosus\" are generally used interchangeably to describe the occurrence of this condition as a localized and less severe form, while the term scleromyxoedema refers to a generalized, more severe form. Signs and symptoms of the condition include the presence of small, firm, waxy papules on the skin that are confined to a few sites on the body. Affected individuals are typically otherwise healthy. The cause of the condition is unknown, but it is commonly associated with monoclonal gammopathy. It has also been reported in association with bone marrow cancers as well HIV infection, hepatitis C, exposure to toxic oil and contaminated L-tryptophan. Localized lichen myxedematosus typically does not require therapy, but topical corticosteroids and oral isotretinoin may help to reduce hardening of the skin.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:86795","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019446","ORPHANET_ID__c":"ORPHA:86795","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Liquen mixedematoso localizado","Spanish_Description_Source__c":"ORPHA:86795","Spanish_Description__c":"Es un grupo de enfermedades de la piel caracterizadas por el desarrollo de pápulas, nódulos y/o placas con depósitos de mucina y un grado variable de fibrosis en ausencia de una enfermedad tiroidea. El grupo incluye cinco sub-formas: liquen mixedematoso nodular, liquen mixedematoso papular discreto, mucinosis papular de la infancia, mucinosis papular acral persistente y mucinosis papular de resolución espontánea.","Spanish_Disease_Name__c":"liquen mixedematoso localizado","Spanish_GARD_Synonym__c":"mucinosis papular","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":"Localized lichen myxedematosus is a rare skin disorder characterized by deposits of mucin in the skin. The terms \"Papular mucinosis\" and \"lichen myxoedematosus\" are generally used interchangeably to describe the occurrence of this condition as a localized and less severe form, while the term scleromyxoedema refers to a generalized, more severe form. Signs and symptoms of the condition include the presence of small, firm, waxy papules on the skin that are confined to a few sites on the body. Affected individuals are typically otherwise healthy. The cause of the condition is unknown, but it is commonly associated with monoclonal gammopathy. It has also been reported in association with bone marrow cancers as well HIV infection, hepatitis C, exposure to toxic oil and contaminated L-tryptophan. Localized lichen myxedematosus typically does not require therapy, but topical corticosteroids and oral isotretinoin may help to reduce hardening of the skin.","Curated_Disease_Description_Source__c":"GARD:0007321","GARD_Synonym__c":"focal lichen myxedematosus; localized lichenoid myxedema","Name":"Localized lichen myxedematosus","estimateUsa":""}],"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/C5575846","Source__c":"C5575846","Xref__c":"C5575846"},{"URL__c":"https://www.orpha.net/en/disease/detail/86795","Source__c":"C5575846; MONDO:0019446; ORPHA:86795","Xref__c":"ORPHA:86795"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1802421","Source__c":"C5575846","Xref__c":"MEDGEN:1802421"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019446","Source__c":"GARD:0007321","Xref__c":"MONDO:0019446"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222586005","Source__c":"C5575846","Xref__c":"1222586005"}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["focal lichen myxedematosus"," localized lichenoid myxedema"]}