Epidermolysis Bullosa

What is Epidermolysis Bullosa?

Epidermolysis bullosa, which is also commonly referred to as EB, is a condition that causes a patient’s skin to become fragile. As a result of this fragility, the skin could become injured easily, and painful blisters begin to form. Those blisters may then become infected, causing complications.

While some individuals who have EB exhibit a mild form of the illness and will only suffer from a few blisters, others may suffer from many blisters. Also, some individuals might develop the blisters internally, such as in the esophagus, stomach, mouth, bladder, and other areas.

Although anyone can have Epidermolysis bullosa, its symptoms typically develop in babies and toddlers. The majority of cases are hereditary.

What are the Symptoms of Epidermolysis Bullosa?

Symptoms will depend on the type of Epidermolysis bullosa and can cause life-threatening symptoms or mild to severe.

Symptoms include

  • Blisters that are filled with fluid. These are found on the skin, particularly on the feet and hands.
  • Deformity, or total loss, of the toenails and/or fingernails
  • Thick skin on the soles of the feet and/or palms of the hands
  • Scarring, hair loss, and blistering of the scalp
  • Skin that appears thin
  • Very small white pimples or skin bumps
  • Blistering that occurs internally
  • Difficulty swallowing
  • Dental ailments

Epidermolysis Bullosa Causes

Epidermolysis Bullosa is an inherited disorder of the skin caused by a mutation to one or more of the 18 genes involved in the manufacture of epidermis. This mutation will lead to one of four types of Epidermolysis Bullosa (EB).

Dominant Dystropic EB is the mildest form of the condition. It is caused by a mutation in the Collage VII gene. Junctional Epidermolysis Bullosa (JEB) is a much more serious form of EB and is recessively inherited. It is caused by the mutations of alpha 6, beta 4 and collagen XVII genes, which are all tied to skin production. Epidermolysis Bullosa Simplex is caused by defects in the genes that control Keratins 5 and 14. This variant is dominantly inherited. Finally, there is a rare recessive form of Epidermolysis Bullosa called Kindler’s Syndrome. It is the result of a mutation that causes a loss of function in the FERM1 gene (also known as the KIND1 gene).

How is Epidermolysis Bullosa Treated?

To treat EB, a doctor will focus on easing the pain associated with the blisters by providing wound care. This will also serve to prevent potential complications.

Medications to control itching and pain, as well as to cure widespread infection and sepsis, can be prescribed. Anti-inflammatory medications can reduce pain that results from having difficulty swallowing.

Patients may also need surgery to restore mobility, widen the esophagus, graft skin, or place a feeding tube.

Unfortunately, this condition will usually progress even with treatment.

Epidermolysis Bullosa Prevention

Epidermolysis Bullosa in any of its forms cannot be prevented, as they are all inherited disorders caused by genetic mutation. There are standard therapies and treatments that can prevent blistering and the serious wounds and injuries that can result from the fragile skin that comes with EB. A key measure involves keeping skin cool. Patients with EB should never expose their skin to hot water or direct heat. Reducing friction of the skin with loose fitting garments and the nonadhesive bandaging of blisters that do form can prevent infection and the creation of blisters. Patients with Epidermolysis Bullosa are at greater risk for developing skin cancer – it is the leading cause of death for those with the disease. Careful monitoring for squamous cell carcinoma is essential for the health and wellbeing of people with Epidermolysis Bullosa.

Last Reviewed:
October 05, 2016
Last Updated:
December 19, 2017