Cuticle cell defects in lamellar ichthyosis hair and anomalous hair shaft syndromes visualized after detergent extraction

The Anatomical Record
Robert H RiceK E Pinkerton

Abstract

The biochemical bases for fragility in most of the rare brittle hair shaft syndromes are unknown. The hypothesis being investigated in several syndromes is that the hair cuticle cells show defects in cross-linked protein features. Since transglutaminases stabilize protein structures by cross-linking them, hair from autosomal recessive lamellar ichthyosis patients lacking keratinocyte transglutaminase was examined to find whether this enzyme participates in hair shaft stabilization. Hair shaft samples from patients afflicted with lamellar ichthyosis or several brittle hair syndromes were examined ultrastructurally by transmission electron microscopy after vigorous extraction with detergent and reducing agent to reveal cross-linked protein features. In hair cuticle cells from three patients with lamellar ichthyosis the marginal band (A layer) was present but nonuniform and subject to breakage, while in a fourth sample it was missing altogether. The exocuticle appeared less dense than in normal hair, consistent with extensive protein loss during detergent extraction. In cuticle cells from trichothiodystrophy hair, the exocuticle layer was essentially fully extractable in one sample, while in two others (from siblings) the exocutic...Continue Reading

References

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Citations

Mar 20, 2009·The Journal of Investigative Dermatology·Robert H RiceJohn P Sundberg
Nov 25, 2003·The British Journal of Dermatology·R H RiceP M Elias
Oct 12, 2007·Experimental Dermatology·Scott D BringansWarren G Bryson
Feb 1, 2006·Molecular & Cellular Proteomics : MCP·Young Jin LeeYoung Moo Lee
Sep 1, 2005·Archives of Dermatological Research·Robert H RicePeter M Elias
Feb 11, 1999·The Anatomical Record·R H RiceJ P Sundberg
Mar 29, 2020·Royal Society Open Science·Fanny ChuBradley R Hart

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