Aetiology | Medibuddy
7th June 2025

Aetiology

  • Loss of function of the gene filaggrin gene function encoding for the protein filaggrin (FLG). 
    • It is essential in formation of keratohyalin granules which are found in the granular layer of epidermis. 
    • It is responsible for aggregating keratin filaments which covalently cross link and bind them together to form a condensed skin barrier. 
  • The loss of the gene function results in the disruption in its barrier function as well as reduction/loss of the moisturizing function of the epidermal layer (Xerosis). 
  • Excessive scaling forms as a result of the inability of the skin cells to remain hydrated as they move up through the epidermis. 
  • As a compensatory repair mechanism, hyperkeratosis results.
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