Epidermolytic Hyperkeratosis - Presentation

Presentation

At birth, affected babies are called "enfant brûlé", from the French for "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, or just by touching the baby. The wounds should be properly cared for, otherwise they are at risk from infection.

The skin is stressed by birth. It gets better after some weeks and fewer blisters are formed. Some months later the skin starts scaling; this is caused by hyperkeratosis. There is a fairly large variation in the degree and extent of the scaling and the blisters.

In particular, some patients have scaling and blisters on the palms and soles of the feet, known as Palmo Planter EHK whereas others do not. Usually scaling is seen on the rest of the body, often concentrated around the joints.

Additionally, the skin develops blisters (hence the bullous part of the name). Typically these will be more common in children than in adults. Depending on the form of the disease patients may also experience palmoplantar keratoderma and frequent superimposed infections. There are the bullous form of EHK and non bullous form.