High-Sulfur Protein Deficient Human Hair: Clinical Aspects and Biochemical Study of Two Unreported Cases of a Variant Type of Trichothiodystrophy

The document reported on two cases of trichothiodystrophy (TTD), a condition characterized by sulfur-deficient brittle hair. The study focused on the biochemical analysis of hair from two patients, revealing a unique pattern of high-sulfur protein deficiency. Unlike typical TTD cases, these patients exhibited a partial loss of high-sulfur proteins without significant changes in amino acid composition. The high-sulfur proteins in their hair were reduced to about 50% of normal levels, with an increase in intermediate filaments. The study suggested the existence of a TTD subgroup with distinct biochemical characteristics, highlighting the variability within the condition.