{"id":"W4408377182","doi":"10.1111/pde.15904","title":"Neuroichthyosis With a De Novo Variant <scp>c.494C&gt;T</scp> in <scp><i>ELOVL1</i></scp> and Severe Pruritus Relieved by Dupilumab","year":2025,"lang":"en","type":"article","venue":"Pediatric Dermatology","topic":"Dermatology and Skin Diseases","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Dupilumab; Medicine; Monoclonal antibody; Monoclonal; Quality of life (healthcare); Dermatology; Immunology; Antibody; Atopic dermatitis","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002227317,0.0005295909,0.001113821,0.0007247087,0.000206427,0.00005065004,0.0003172601,0.0005886458,0.0000189391],"category_scores_gemma":[0.002007746,0.000486741,0.0001223485,0.001207988,0.0003150427,0.0001475476,0.0002126197,0.0007310919,0.000075756],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007893591,"about_ca_system_score_gemma":0.0008005648,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007399875,"about_ca_topic_score_gemma":0.00007401111,"domain_scores_codex":[0.9964575,0.0003672496,0.0008247805,0.0008828372,0.0002967875,0.001170909],"domain_scores_gemma":[0.9964426,0.00209847,0.0002556262,0.0006117613,0.0001434803,0.0004480801],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008978787,0.0006408535,0.7496222,0.0006662172,0.0001489233,0.006873701,0.0004292757,0.000006067233,0.0001174357,0.0003070312,0.2408464,0.0002520499],"study_design_scores_gemma":[0.01917001,0.000336213,0.7687576,0.000201575,0.002356463,0.05748318,0.0009314943,0.0005823215,0.0009351912,0.001824549,0.1471059,0.0003154399],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9660281,0.01591384,0.0003135497,0.003031424,0.0003202805,0.0007808584,0.0000432371,0.0002098683,0.01335883],"genre_scores_gemma":[0.9871708,0.003773008,0.0007579417,0.005651525,0.0001117508,0.0001917913,0.00007329663,0.0000636082,0.002206287],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09374049,"threshold_uncertainty_score":0.9997584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004196545249508987,"score_gpt":0.2219620121358516,"score_spread":0.2177654668863426,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}