{"Name":"Nevus of Ito","DiseaseID__c":"GARD:0010830","id":10830,"encodedName":"nevus-of-ito","IsDeleted":false,"Disease_Name_Full__c":"Nevus of Ito","Xref_IDs__c":"C7582; CN305360; MEDGEN:987817; MONDO:0016985; ORPHA:263432","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016985","Disease_Description__c":"Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.","GARD_Name__c":"Nevus of Ito","GARD_Synonym__c":"ito's nevus; nevi of ito; nevus fuscocaeruleus acromiodeltoideus","Curated_Disease_Description_Source__c":"GARD:0010830","Curated_Disease_Description__c":"Nevus of Ito is a colored birth mark that is usually slate-brown or blue/gray. It is an unusual birthmark in which the melanocytes (pigment cells) are found deeper than normal in the skin. This type of birthmark is usually located on the shoulder and upper arm area on one side of the body. It can sometimes be associated with sensory changes in the involved skin area. Very rarely does Nevus of Ito become cancerous. The exact cause is unknown. They are most commonly found in Asian populations and appear more frequently in females. They are very uncommon in Caucasians.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:263432","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016985","ORPHANET_ID__c":"ORPHA:263432","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevo de ito","Spanish_Description_Source__c":"ORPHA:263432","Spanish_Description__c":"Es una melanocitosis dérmica benigna que se presenta con mayor frecuencia en poblaciones asiáticas, caracterizada por una pigmentación cutánea azulada, grisácea o parduzca asintomática, unilateral, en la zona acromioclavicular y en el tórax superior (afectando la cara lateral del cuello, la región supraclavicular y escapular, y el hombro). Suele diagnosticarse en la primera infancia y en la adolescencia temprana. Puede aumentar de tamaño y oscurecerse progresivamente (especialmente en la pubertad) permaneciendo estable una vez alcanzada la edad adulta, pero sin una regresión espontánea. Excepcionalmente se ha descrito el desarrollo de melanoma maligno sobre este tipo de nevo. Comparte características clínicas con el nevo de Ota (distinta localización anatómica) y, excepcionalmente, pueden coexistir ambas lesiones.","Spanish_Disease_Name__c":"nevo de ito","Spanish_GARD_Synonym__c":"nevo de ota acromiodeltoide","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":"Nevus of Ito is a colored birth mark that is usually slate-brown or blue/gray. It is an unusual birthmark in which the melanocytes (pigment cells) are found deeper than normal in the skin. This type of birthmark is usually located on the shoulder and upper arm area on one side of the body. It can sometimes be associated with sensory changes in the involved skin area. Very rarely does Nevus of Ito become cancerous. The exact cause is unknown. They are most commonly found in Asian populations and appear more frequently in females. They are very uncommon in Caucasians.","Curated_Disease_Description_Source__c":"GARD:0010830","GARD_Synonym__c":"ito's nevus; nevi of ito; nevus fuscocaeruleus acromiodeltoideus","Name":"Nevus of Ito","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"All ages","Provided_By__c":"ORPHA:263432"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7582","Source__c":"MONDO:0016985","Xref__c":"C7582"},{"URL__c":"https://www.orpha.net/en/disease/detail/263432","Source__c":"CN305360; MONDO:0016985","Xref__c":"ORPHA:263432"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN305360","Source__c":"CN305360","Xref__c":"CN305360"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=987817","Source__c":"CN305360","Xref__c":"MEDGEN:987817"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016985","Source__c":"GARD:0010830","Xref__c":"MONDO:0016985"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263432","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025534","HPO_Synonym__c":"Melanosis oculi; Ocular melanosis","HPO_Name__c":"Ocular melanocytosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263432","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Pediatrics"],"Disease Category":["Cancer","Dermatology"],"Account":["Dermatology"]},"synonyms":["ito's nevus"," nevi of ito"," nevus fuscocaeruleus acromiodeltoideus"]}