Rare Diseases Symptoms Automatic Extraction

Regulation of keratin expression by retinoids.

[epidermolysis bullosa simplex]

Vitamin A and its natural and synthetic metabolites (retinoids) affect growth and differentiation of human skin and among the genes affected by retinoids in epidermis are keratin genes. Keratins are intermediate filament proteins that have essential functions in maintaining the structural integrity of epidermis and its appendages. Their expressions are under strict control to produce keratins that are optimally adapted to their environment. In this article, retinoid regulation of keratin expression in cultured human epidermal keratinocytes and in human skin in vivo will be reviewed. The direct and indirect mechanisms involved will be discussed and novel therapeutic strategies will be proposed for utilizing retinoids in skin disorders due to keratin mutations (e.g., epidermolysis bullosa simplex and epidermolytic ichthyosis).

Diseases presenting "keratin mutations" symptom

  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • lamellar ichthyosis

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