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[Trichothiodystrophy: a morphological and biochemical study].

D Van Neste, P Boré

    Annales De Dermatologie Et De Venereologie
    |January 1, 1983
    PubMed
    Summary
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    Trichothiodystrophy causes brittle hair due to low sulfur amino acids. Research suggests a metabolic issue, not a transport defect, in hair follicles, impacting other tissues too.

    Area of Science:

    • Dermatology
    • Genetics
    • Biochemistry

    Background:

    • Trichothiodystrophy (TTD) is a rare genetic disorder characterized by brittle hair (trichoschisis) and reduced sulfur-containing amino acids.
    • Associated symptoms include neurological impairment and male sterility, suggesting broader systemic involvement.

    Observation:

    • Microscopic examination revealed hair shaft abnormalities and distinct hair bulb morphology in TTD patients.
    • Peripheral blood cystine levels were normal, contrasting with significantly decreased levels in hair shafts.

    Findings:

    • Hair follicle studies with radiolabeled cystine showed normal incorporation, challenging the hypothesis of a defective amino acid transport mechanism.
    • The findings indicate a potential intracellular metabolic defect in sulfur amino acid utilization within the hair follicle.

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    Implications:

    • These results necessitate further investigation into the underlying metabolic pathways of TTD.
    • Understanding these pathways could elucidate the cause of systemic symptoms and inform potential therapeutic strategies for these rare syndromes.