Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab.

• Tác giả: Victor Kokta, Danielle Marcoux, Luis H Ospina, Elsa Rossignol, Sophie-Anne Savard
• Ngôn ngữ: eng
• Ký hiệu phân loại: 023.2 Professional positions
• Thông tin xuất bản: United States : Pediatric dermatology , 2025
• Bộ sưu tập: NCBI
• ID: 697015

Tóm tắt

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.