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A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.

The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.

This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.

This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.

This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.