A New Case of Isolated Trichothiodystrophy
January 1993
in “
Dermatology
”
TLDR A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
The document described a new case of isolated trichothiodystrophy, a condition marked by sparse, brittle hair with low sulfur content, and a distinctive tiger tail pattern under polarizing microscopy. This case was notable as one of only two reported instances of isolated trichothiodystrophy without additional ectodermal or neuroectodermal dysplasias. The study confirmed low sulfur content through amino acid analysis and observed transverse fractures and banding in the hair. The authors highlighted the confusion caused by various terms for sulfur-deficient brittle hair and recommended a simplified classification based on the severity of associated features.
