Trichothiodystrophy: an electron-histochemical study of the hair shaft.

Abstract

We have used sensitive electron-histochemical methods to study the subtle ultrastructural variations of cystine incorporation into the hair shaft in trichothiodystrophy. We have shown a general reduction in the cystine (sulphur) content of both the cuticle and the cortex. 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 & Marshall (1981) in demonstrating the absence or re-characterization of the high sulphur matrix proteins and show further evidence for the incorporation, and abnormal distribution and deposition of sulphur-rich proteins in the hair cortex and cuticle. We conclude that 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 more than one metabolic disturbance.

• Authors: C L Gummer, R P Dawber, V H Price
• Journal: The British journal of dermatology (Br J Dermatol) Vol. 110 Issue 4 Pg. 439-49 (Apr 1984) ISSN: 0007-0963 [Print] England
• PMID: 6201187 (Publication Type: Journal Article)

Chemical References

• Cystine

Topics

• Cystine (metabolism)
• Hair (metabolism, ultrastructure)
• Hair Diseases (metabolism, pathology)
• Histocytochemistry
• Humans
• Microscopy, Electron
• Staining and Labeling