At birth, affected babies are called “burned child” because they look red and have a fragile top layer of skin which easily forms blisters and wounds. Such injury can be caused by diapers orjust by touching the baby.

Epidermolytic hyperkeratosis is a dominant genetic condition caused by mutations in the genes encoding the proteins keratin 1 and keratin 10.

Keratin 1 is associated with the variants affecting the palms and nose.

Keratin 10 is associated with the variants in which these are unaffected.

Epidermolytic hyperkeratosis affects the stratum granulosum and stratum spinosum of the epidermis.

The excessive keratinization causes a breakdown of the epidermis.