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Dupilumab for Trichothiodystrophy—Case Report and Review of the Literature | Synapse

April 5, 2026Clinical Case Reports0 citationsOpen Access

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Dupilumab for Trichothiodystrophy—Case Report and Review of the Literature

JOJulia O'Mahony COCathal O'Connor

Key Points

To explore the use of dupilumab as a treatment for trichothiodystrophy associated with atopic dermatitis.
Case report of a patient with trichothiodystrophy and atopic dermatitis
Review of existing literature on treatment options for TTD
Assessment of treatment outcomes with dupilumab
Dupilumab demonstrated effectiveness in reducing symptoms of atopic dermatitis
Treatment was well-tolerated with no significant adverse effects reported
Literature review supports the potential of dupilumab in similar cases

Abstract

ABSTRACT Trichothiodystrophy (TTD) arises from pathogenic changes in several genes, most of which participate in DNA repair or transcriptional and translational processes. Atopic dermatitis may accompany TTD in a minority of cases. Dupilumab can offer a safe and effective treatment option for severe atopic dermatitis in this population.

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Cite This Study

O'Mahony et al. (Wed,) studied this question.

synapsesocial.com/papers/69d1fd3da79560c99a0a3148 https://doi.org/https://doi.org/10.1002/ccr3.72473