Structural and Molecular Hair Abnormalities in Trichothiodystrophy

Researchers examined hair from 15 patients with trichothiodystrophy (TTD), a rare disorder characterized by brittle, cystine-deficient hair. They found a variety of phenotypes, from brittle hair to severe intellectual impairment. Microscopic analyses revealed structural abnormalities, including irregular melanin distribution and surface irregularities. All TTD hair samples had reduced sulfur content, with an inverse correlation between sulfur content and hair shaft abnormalities. Raman spectra indicated more energetically less favored disulfide conformers in TTD hairs. The study concluded that TTD hair brittleness was due to multiple organizational abnormalities, making the hair prone to breakage and weathering.