Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome

Abstract

Sjögren-Larsson Syndrome (SLS), now termed ALDH3A2-syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4-year-old twin girls with genetically confirmed SLS who showed significant and lasting improvement in itch following treatment with dupilumab, a biologic targeting interleukin-4 receptor signaling. Within 6 months, pruritus severity scores declined markedly, improving sleep and quality of life without adverse effects, supporting further investigation of dupilumab for SLS-associated itch.

Keywords: Sjögren–Larsson syndrome; congenital ichthyosis; dupilumab; pruritus.