{"Name":"Ichthyosis linearis circumflexa","DiseaseID__c":"GARD:0002967","id":2967,"encodedName":"ichthyosis-linearis-circumflexa","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis linearis circumflexa","Xref_IDs__c":"54336006; C0265962; HP:0025810; MEDGEN:78578; MONDO:0043106","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Ichthyosis linearis circumflexa","GARD_Synonym__c":"double-edged scaling; serpiginous scaling","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare genetic skin disease is a form of Netherton syndrome, a disease that affects the skin, hair, and immune system. Newborns with this disease have skin that is very red and scaly, and the skin may leak fluid. Some babies are born with a tight, clear layer of skin called a collodion membrane, which usually peels off in the first few weeks of life. Because their skin does not protect them well, these babies can become dehydrated, get serious skin and body infections, and may have trouble growing and gaining weight as expected. As children with Netherton syndrome grow older, their health often improves, but many remain shorter and weigh less than their peers. Skin problems can vary over time and may include ongoing redness, scaling, or ring-shaped patches. Itching is common and scratching can lead to frequent infections. Dead skin can build up in the ear canals and affect hearing. The skin also absorbs lotions and ointments more than usual, and people may have trouble keeping a normal body temperature. Hair on the scalp, eyelashes, and eyebrows can be fragile, break easily, and have uneven thickness. Many people also have immune-related problems such as food allergies, hay fever, asthma, or eczema.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0043106","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"This rare genetic skin disease is a form of Netherton syndrome, a disease that affects the skin, hair, and immune system. Newborns with this disease have skin that is very red and scaly, and the skin may leak fluid. Some babies are born with a tight, clear layer of skin called a collodion membrane, which usually peels off in the first few weeks of life. Because their skin does not protect them well, these babies can become dehydrated, get serious skin and body infections, and may have trouble growing and gaining weight as expected. As children with Netherton syndrome grow older, their health often improves, but many remain shorter and weigh less than their peers. Skin problems can vary over time and may include ongoing redness, scaling, or ring-shaped patches. Itching is common and scratching can lead to frequent infections. Dead skin can build up in the ear canals and affect hearing. The skin also absorbs lotions and ointments more than usual, and people may have trouble keeping a normal body temperature. Hair on the scalp, eyelashes, and eyebrows can be fragile, break easily, and have uneven thickness. Many people also have immune-related problems such as food allergies, hay fever, asthma, or eczema.","GARD_Synonym__c":"double-edged scaling; serpiginous scaling","Name":"Ichthyosis linearis circumflexa","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78578","Source__c":"C0265962","Xref__c":"MEDGEN:78578"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54336006","Source__c":"C0265962; MONDO:0043106","Xref__c":"54336006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265962","Source__c":"C0265962","Xref__c":"C0265962"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025810","Source__c":"C0265962","Xref__c":"HP:0025810"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0043106","Source__c":"GARD:0002967","Xref__c":"MONDO:0043106"}],"Inheritance__c":["Autosomal recessive"],"tags":{},"synonyms":["double-edged scaling"," serpiginous scaling"]}