Pediatr Dermatol. 2025 Aug 17. doi: 10.1111/pde.70015. Online ahead of print.
ABSTRACT
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.
PMID:40820264 | DOI:10.1111/pde.70015
