Congenital ichthyosis is primarily caused by mutations in genes involved in skin barrier function and lipid metabolism. These genes include:
- TGM1: Encodes for transglutaminase 1, an enzyme essential for the formation of the cornified cell envelope. - ABCA12: Involved in lipid transport and crucial for normal skin barrier function. - SPINK5: Encodes for a serine protease inhibitor, which is important for skin homeostasis.
