{"Name":"Linear atrophoderma of Moulin","DiseaseID__c":"GARD:0019932","id":19932,"encodedName":"linear-atrophoderma-of-moulin","IsDeleted":false,"Disease_Name_Full__c":"Linear atrophoderma of Moulin","Xref_IDs__c":"403395007; C1274753; MEDGEN:698076; MONDO:0015371; ORPHA:140933","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":1,"Description_Source__c":"MONDO:0015371","Disease_Description__c":"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.","GARD_Name__c":"Linear atrophoderma of Moulin","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:140933","Curated_Disease_Description__c":"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:140933","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015371","ORPHANET_ID__c":"ORPHA:140933","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofodermia lineal de moulin","Spanish_Description_Source__c":"ORPHA:140933","Spanish_Description__c":"El atrofoderma lineal de Moulin (ALM) se caracteriza por lesiones ligeramente atróficas e hiperpigmentadas dispuestas en bandas según las líneas de Blaschko del tronco y de las extremidades. Desde su primera descripción en 1992, se han descrito menos de 30 casos en la literatura. Aparece durante la infancia o la adolescencia y es una enfermedad no progresiva. No existe una inflamación que la preceda, ni una esclerodermia subsecuente. Se desconoce la etiología, pero como la ALM sigue las líneas de Blaschko, se ha sugerido que la enfermedad podría estar causada por un mosaicismo de un gen de susceptibilidad.","Spanish_Disease_Name__c":"atrofodermia lineal de moulin","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":"Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.","Curated_Disease_Description_Source__c":"ORPHA:140933","Name":"Linear atrophoderma of Moulin","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:140933"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403395007","Source__c":"C1274753; MONDO:0015371","Xref__c":"403395007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=698076","Source__c":"C1274753","Xref__c":"MEDGEN:698076"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1274753","Source__c":"C1274753","Xref__c":"C1274753"},{"URL__c":"https://www.orpha.net/en/disease/detail/140933","Source__c":"C1274753; MONDO:0015371; ORPHA:140933","Xref__c":"ORPHA:140933"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015371","Source__c":"GARD:0019932","Xref__c":"MONDO:0015371"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:140933","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An induration (hardening) of the skin","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030053","HPO_Synonym__c":"Indurated skin; Skin induration; Stiff skin","HPO_Name__c":"Stiff skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140933","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100324","HPO_Synonym__c":"Progressive systemic scleroderma; Pseudoscleroderma","HPO_Name__c":"Scleroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140933","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007546","HPO_Name__c":"Linear hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140933","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140933","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011123","HPO_Synonym__c":"Abnormal tendency to infections of the skin; Inflammatory abnormality of the skin; Skin inflammation","HPO_Name__c":"Inflammatory abnormality of the skin","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}