This report reveals the atypical features of a second type 9 trichothiodystrophy case, highlighting its clinical implications.
Trichothiodystrophy exhibits a broad clinical spectrum, and cases with an uncommon phenotype can go unnoticed, complicating the diagnosis. We present the second case of type 9 non‐photosensitive trichothiodystrophy caused by a homozygous variant in the MARS1 gene. It presented with atypical features, including long hair, normal hair density of eyebrows and eyelashes, and precocious puberty.
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Lasheras‐Pérez et al. (2025) studied this question.
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