{"Name":"Lupus erythematosus tumidus","DiseaseID__c":"GARD:0013003","id":13003,"encodedName":"lupus-erythematosus-tumidus","IsDeleted":false,"Disease_Name_Full__c":"Lupus erythematosus tumidus","Xref_IDs__c":"200941006; C0406636; C117112; MEDGEN:590566; MONDO:0019560; ORPHA:90283","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":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":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0019560","Disease_Description__c":"Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.","GARD_Name__c":"Lupus erythematosus tumidus","GARD_Synonym__c":"intermittent cutaneous lupus; let","Curated_Disease_Description_Source__c":"GARD:0013003","Curated_Disease_Description__c":"Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules) on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:90283","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019560","ORPHANET_ID__c":"ORPHA:90283","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lupus eritematoso túmido","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lupus eritematoso túmido","Spanish_GARD_Synonym__c":"lupus cutáneo intermitente; lupus eritematoso tumidus","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":"Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules) on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars.","Curated_Disease_Description_Source__c":"GARD:0013003","GARD_Synonym__c":"intermittent cutaneous lupus; let","Name":"Lupus erythematosus tumidus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"Lupus Foundation of America","Website__c":"https://www.lupus.org/"},{"Account_Name__c":"Lupus Research Alliance","Website__c":"https://lupusresearch.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:90283"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:90283"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:90283"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90283"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=200941006","Source__c":"C0406636; MONDO:0019560","Xref__c":"200941006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C117112","Source__c":"C0406636; MONDO:0019560","Xref__c":"C117112"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=590566","Source__c":"C0406636","Xref__c":"MEDGEN:590566"},{"URL__c":"https://www.orpha.net/en/disease/detail/90283","Source__c":"C0406636; MONDO:0019560; ORPHA:90283","Xref__c":"ORPHA:90283"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406636","Source__c":"C0406636","Xref__c":"C0406636"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019560","Source__c":"GARD:0013003","Xref__c":"MONDO:0019560"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lesion of the skin with a ring-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025528","HPO_Name__c":"Annular cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007483","HPO_Name__c":"Depigmentation/hyperpigmentation of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020151","HPO_Synonym__c":"Anti-double-stranded DNA antibody positivity","HPO_Name__c":"Anti-dsDNA antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against nuclei or nuclear components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003493","HPO_Synonym__c":"Antinuclear antibodies; Antinuclear antibody positive; Elevated antinuclear antibody; Serum antinuclear antibody","HPO_Name__c":"Antinuclear antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100699","HPO_Synonym__c":"Scarring","HPO_Name__c":"Scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032235","HPO_Name__c":"Anti-La/SS-B antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030351","HPO_Name__c":"Urticarial plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031191","HPO_Synonym__c":"Deep perivascular inflammatory infiltrate","HPO_Name__c":"Deep dermal perivascular inflammatory infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90283","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["intermittent cutaneous lupus"," let"]}