Trichothiodystrophy: A Morphological and Biochemical Study

Trichothiodystrophy was studied as a hair disorder characterized by brittle hair and decreased sulfur-containing amino acids. The study used light and scanning electron microscopy to examine hair dysplasia and hair bulbs, finding normal cystin levels in blood but decreased in hair shafts, with normal cystine incorporation in hair follicles. These findings did not support the hypothesis of a defective transport mechanism in hair follicles. The study suggested that similar defects in other tissues might cause associated symptoms like nervous impairment and male sterility, highlighting the need for further research to understand the metabolic pathways of these rare syndromes.