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Case Reports
. 2024 Sep-Oct;41(5):881-883.
doi: 10.1111/pde.15612. Epub 2024 Apr 16.

Dupilumab treatment of trichothiodystrophy in a child

Elisabetta Magnaterra  1 , Mattia Giovannini  1   2 , Cesare Filippeschi  3 , Fausto Andrea Pedaci  3 , Greta Tronconi  3 , Michele Callea  4 , Silvia Ricci  1   5 , Francesca Mori  2 , Maria Parpagnoli  6 , Teresa Oranges  3
Affiliations
Case Reports

Dupilumab treatment of trichothiodystrophy in a child

Elisabetta Magnaterra et al. Pediatr Dermatol. 2024 Sep-Oct.

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.

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References

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