[1]: 598 [2] It is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.
[4] The skin blisters easily, even from very minor friction and rubbing.
Epidermolysis bullosa simplex is caused by genetic mutations that prevent the proper formation of protein structures in the skin’s epidermis.
The proteins of the outer epidermis do not bond properly with those of the inner dermis layer (dermal-epidermal junction).
However, a small number of epidermolysis bullosa simplex patients do not have mutations in their KRT5 and KRT14 genes.