Case report highlights novel compound heterozygous variants in ERCC3 gene linked to genotypic spectrum of trichothiodystrophy.
We report a case of photosensitive trichothiodystrophy in a 21-year-old male presenting with brittle hair and characteristic "tiger-tail" banding on polarized light microscopy. Genetic analysis identified novel compound heterozygous variants in the ERCC3 gene, an exceptionally rare cause of this condition previously reported in only one family. This case expands the genotypic spectrum of trichothiodystrophy.
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