Keratohyalin granules are heterogeneous in ridged and non-ridged human skin: evidence from anti-filaggrin immunogold labelling of normal skin and skin of autosomal dominant ichthyosis vulgaris patients

Arch Dermatol Res. 1991;283(7):421-32. doi: 10.1007/BF00371777.

Abstract

Recent biochemical and morphological investigations have provided evidence for a heterogeneous composition of keratohyalin in human skin. A major component is filaggrin. In interfollicular epidermis the heterogeneity of keratohyalin is not directly visible, whereas in normal ridged skin bicomponent keratohyalin is revealed by electron microscopy. Skin biopsies of ridged and non-ridged skin of normal individuals and patients with autosomal dominant ichthyosis vulgaris (ADI)--characterized by defective keratohyalin synthesis and lack of filaggrin--were investigated by routine transmission electron microscopy and immunogold postembedding techniques using a commercial monoclonal anti-filaggrin antibody. In normal interfollicular epidermis filaggrin labelling was demonstrated on keratohyalin granules and in the lowermost cornified cells, whereas in ADI patients crumbly keratohyalin granules were present that did not show specific labelling for filaggrin. In normal ridged skin only the major (more electron-dense) component reacted with anti-filaggrin, whereas the attached (less electron-dense) component did not react. Ridged skin of ADI patients contained globular keratohyalin that did not react with anti-filaggrin, thus corresponding to the attached keratohyalin component in normal ridged skin. Our results provide a visible counterpart to the recent biochemical investigations of keratohyalin protein heterogeneity and contribute to the understanding of terminal differentiation in human skin and of the defective keratohyalin synthesis in ADI.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Antibodies, Monoclonal / immunology
  • Cytoplasmic Granules / chemistry*
  • Cytoplasmic Granules / metabolism
  • Cytoplasmic Granules / ultrastructure
  • Female
  • Filaggrin Proteins
  • Genes, Dominant
  • Humans
  • Ichthyosis Vulgaris / genetics
  • Ichthyosis Vulgaris / metabolism
  • Ichthyosis Vulgaris / pathology*
  • Immunohistochemistry
  • Intermediate Filament Proteins / immunology*
  • Keratins / analysis*
  • Keratins / metabolism
  • Male
  • Microscopy, Electron / methods
  • Middle Aged
  • Skin / chemistry*
  • Skin / pathology
  • Skin / ultrastructure

Substances

  • Antibodies, Monoclonal
  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins
  • keratohyalin
  • Keratins