Trichothiodystrophy

Trichothiodystrophy was identified as a condition marked by sulfur-deficient brittle hair, serving as a clinical marker 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 of hair from two new patients revealed distinctive bright and dark bands under polarizing microscopy, associated with low sulfur content. Two-dimensional electrophoresis confirmed that the abnormality was due to decreased synthesis of high-sulfur matrix proteins. The condition suggested disturbances in the transport or utilization of sulfur-containing amino acids in neuroectodermal tissues, potentially explaining the various symptoms observed.