A fault in a gene causes the skin to be extremely fragile. The layers of the skin do not adhere properly and painful widespread blisters occur very easily. These can lead to increasing disfigurement, disability and in the most severe forms death in early childhood. Summary of Research EB Simplex is caused by defects in keratin genes.
Keratins are filamentous proteins which are found in a number of tissues including the skin.
They are important for its structural integrity and alterations in these proteins can make the cells fragile and less resilient to mechanical stress. There is still no treatment or cure. The murine gene encoding keratin K14, a gene responsible for EB Simplex, will be cloned and fully sequenced. The human K14 promoter will also be cloned and sequenced. A murine transformed keratinocyte cell line will be produced.