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

    January 1989
    D. Van Neste, H. Degreef, N. Van Haute, J Van Hee, J. Vandermaesen, Taïeb A, Maleville A, D. Fontan, N. Bakry, J. M. Gillespie, R. C. Marshall, D. Van Neste, H. Degreef, N. Van Haute, J Van Hee, J. Vandermaesen, Taïeb A, Maleville A, D. Fontan, N. Bakry, J. M. Gillespie, R. C. Marshall
    Studysummary This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition. Our plain-language summary of this paper — not a Tressless recommendation.
    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.
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