Epidermolysis Bullosa

Epidermolysis bullosa is a group of rare diseases that cause the skin to blister. The blisters may appear in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or intestines. Most types of epidermolysis bullosa are inherited. The condition usually shows up in infancy or early childhood. Some people don't develop signs and symptoms until adolescence or early adulthood. Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment focuses on addressing the symptoms — such as infection and itching — and preventing pain and wounds.

Severe forms may cause serious complications and can be fatal. Recent discoveries of the molecular basis of epidermolysis bullosa have resulted in the development of new diagnostic tools, including prenatal and preimplantation testing. Epidermolysis bullosa signs and symptoms include fluid-filled blisters on the skin, especially on the hands and feet due to friction, deformity or loss of fingernails and toenails, internal blistering, including on the vocal cords, esophagus and upper airway, skin thickening on the palms and the soles of the feet, scalp blistering, scarring and hair loss, thin-appearing skin, tiny white skin bumps or pimples, dental problems, such as tooth decay from poorly formed enamel, difficulty swallowing. According to the National Epidermolysis Bullosa Registry, the number of epidermolysis bullosa cases in Isarel is 54 cases per million live births, in Japan is 7.8 cases per million live births, and in Croatia is 9.6 cases per million live births.

Treatment of epidermolysis bullosa aims to prevent complications and ease the pain of the blisters with appropriate wound care. The condition often progresses despite treatment, sometimes causing serious complications and death.