Trichothiodystrophy: an electron-histochemical study of the hair shaft

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Abstract
Sensitive electron-histochemical methods were used to study the subtle ultrastructural variations of cystine incorporation into the hair shaft in trichothiodystrophy. A general reduction in the cystine (S) content of the cuticle and the cortex was found. Discontinuity and, in some cases, complete absence of the cuticular A-layer results in premature weathering of the cuticle and weakening of the hair shaft. The ultrastructural findings support the work of Gillespie and Marshall (1981) in demonstrating the absence or recharacterization of the high S matrix proteins and show further evidence for the incorporation, and abnormal distribution and deposition of S-rich proteins in the hair cortex and cuticle. The similar, yet different, results obtained from each patient''s hair sample are characteristic of trichothiodystrophy, a neuro-ectodermal symptom complex which may represent a final common pathway of > 1 metabolic disturbance.