Dupilumab treatment of trichothiodystrophy in a child

Elisabetta Magnaterra; Mattia Giovannini; Cesare Filippeschi; Fausto Andrea Pedaci; Greta Tronconi; Michele Callea; Silvia Ricci; Francesca Mori; Maria Parpagnoli; Teresa Oranges

doi:10.1111/pde.15612

Dupilumab treatment of trichothiodystrophy in a child

Pediatr Dermatol. 2024 Apr 16. doi: 10.1111/pde.15612. Online ahead of print.

Authors

Affiliations

¹ Department of Health Sciences, University of Florence, Florence, Italy.
² Allergy Unit, Meyer Children's Hospital, IRCCS, Florence, Italy.
³ Dermatology Unit, Meyer Children's Hospital, IRCCS, Florence, Italy.
⁴ Unit of Pediatric Dentistry and Special Dental Care, Meyer Children's Hospital, IRCCS, Florence, Italy.
⁵ Immunology Unit, Meyer Children's Hospital, IRCCS, Florence, Italy.
⁶ Children With Clinical Complex Needs Unit, Meyer Children's Hospital, IRCCS, Florence, Italy.

PMID: 38627102
DOI: 10.1111/pde.15612

Abstract

Trichothiodystrophy (TTD) is a rare congenital disorder caused by genetic mutations, leading to hair and skin abnormalities. We report successful treatment of a TTD case using dupilumab, a monoclonal antibody targeting IL-4Rα. The patient, a 7-year-old boy, exhibited significant improvement in skin and hair conditions, suggesting the potential of dupilumab as a therapeutic option for TTD. Further research is needed to elucidate its mechanism and efficacy in TTD treatment.

Keywords: atopic dermatitis; dupilumab; ichthyosis; polarized microscopy; trichothiodystrophy.

Publication types

Case Reports