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Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.

Mutation research. Reviews in mutation research - 1 Jan 2025

Lanzafame Manuela, Brevi Francesca, Veniali Gaia, Botta Elena

Abstract excerpt

Trichothiodystrophy (TTD) is a rare hereditary disease characterized by brittle, sulphur deficient hair associated with a wide and varied spectrum of clinical features which include skin alterations, neurodevelopmental defects, and immune dysfunction. The presence of hypersensitivity to UV light defines the two main forms of TTD: photosensitive (PS-TTD) and non-photosensitive (NPS-TTD). The disease arises from...

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PMID: 40737808
DOI: 10.1016/j.mrrev.2025.108555

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NPS

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