Dupilumab Provides Meaningful Clinical Responses in Harlequin Ichthyosis ( <i>ABCA12</i> ‐ <scp>nEDD</scp> ): A Report of Two Cases

Harlequin ichthyosis (HI) is a rare epidermal differentiation disorder characterized by thick hyperkeratotic plates, fissuring, and high neonatal morbidity. Long-term management remains challenging. We report two children with genetically confirmed HI who demonstrated meaningful improvement in pruritus, erythema, scaling, and overall well-being following dupilumab therapy, suggesting a potential role for IL-4/IL-13 blockade as an adjunct or alternative treatment in HI.

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Publication Details

Journal
Pediatric Dermatology
Published
2026-07-27
DOI
https://doi.org/10.1111/pde.70327
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Dupilumab Provides Meaningful Clinical Responses in Harlequin Ichthyosis ( ABCA12 ‐ nEDD ): A Report of Two Cases

Minu Jose Chiramel, Rebecca Levy, Elaine Siegfried, Cynthia Chen
Pediatric Dermatology
Skin and Cellular Biology Research
article

Dupilumab Provides Meaningful Clinical Responses in Harlequin Ichthyosis ( ABCA12 ‐ nEDD ): A Report of Two Cases

Minu Jose Chiramel, Rebecca Levy, Elaine Siegfried, Cynthia Chen
article en

Abstract

Harlequin ichthyosis (HI) is a rare epidermal differentiation disorder characterized by thick hyperkeratotic plates, fissuring, and high neonatal morbidity. Long-term management remains challenging. We report two children with genetically confirmed HI who demonstrated meaningful improvement in pruritus, erythema, scaling, and overall well-being following dupilumab therapy, suggesting a potential role for IL-4/IL-13 blockade as an adjunct or alternative treatment in HI.

Pediatric Dermatology
Washington University in St. Louis (US), Hospital for Sick Children (CA), Cardinal Glennon Children’s Medical Center (US)
Openalex Percentile: Top 12%
Skin and Cellular Biology Research
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