Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms

Trichothiodystrophy was identified as a condition marked by sulfur-deficient brittle hair, serving as a clinical indicator for a neuroectodermal symptom complex that often included mental and physical retardation, nail dystrophy, lamellar ichthyosis, ocular dysplasia, dental caries, and decreased fertility. The study examined hair from two new patients, revealing distinctive bright and dark bands under polarizing microscopy, indicative of low sulfur content. Two-dimensional electrophoresis confirmed that the abnormality was due to decreased synthesis of high-sulfur matrix proteins. The findings suggested that disturbances in the transport or utilization of sulfur-containing amino acids in neuroectodermal tissues could explain the various symptoms observed in affected individuals.