Diagnosis of Trichothiodystrophy in Two Siblings
January 1997
in “
Dermatology
”
TLDR Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
Trichothiodystrophy (TTD) was identified in two siblings with related parents, characterized by sparse, brittle hair with low cystine content and associated with various symptoms including epilepsy, ataxia, and spasticity. The study highlighted that the sulfur content in their hair was about 50% of normal, and microscopy revealed specific hair abnormalities. The research emphasized that diagnosing TTD could be challenging due to its varied clinical presentation, but measuring hair sulfur content was a crucial diagnostic tool.
