Neuroichthyosis With a De Novo Variant <scp>c.494C>T</scp> in <scp><i>ELOVL1</i></scp> and Severe Pruritus Relieved by Dupilumab
We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports. After multiple treatment failures, he responded well clinically and subjectively to the monoclonal antibody dupilumab.
Authors
- Danielle Marcoux (ORCID: https://orcid.org/0000-0003-2079-9166)
- Sophie‐Anne Savard (ORCID: https://orcid.org/0009-0003-0218-8932)
- Luis H. Ospina (ORCID: https://orcid.org/0000-0003-2941-6336)
- Elsa Rossignol (ORCID: https://orcid.org/0000-0002-9304-9385)
- Victor Kokta
Institutions
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1111/pde.15904
- Citations
- 1
- Primary Topic
- Dermatology and Skin Diseases
- Type
- article
- Field-Weighted Citation Impact
- 2.00