Epidermolysis Bullosa (EB) Clinic

Epidermolysis bullosa (EB) is a rare genetic skin disease most often present at birth with blisters or areas of missing skin on the body caused by minor trauma to the skin. While we have no cure for EB yet, supportive care is critical and includes wound dressings, infection prevention, nutritional management and taking steps to stay as healthy as possible.

 EB conditions range from mild to severe. Depending on the type of EB and its severity, symptoms may include:

  • Blisters
  • Difficulty swallowing
  • Fusion of fingers and toes
  • Hair loss
  • Hoarse cough
  • Malnutrition
  • Scarring
  • Thick or missing nails
  • Tooth decay
  • White bumps on the skin

There are several forms of EB, including:

EB Simplex

EB simplex is usually a mild form of EB. While there are many subtypes of EB simplex, most of these are notable for causing blistering skin, but with little or no scarring. EB Simplex is caused by a mutation in the gene that forms protein in keratin.

Dystrophic EB

Dystrophic EB is caused by a mutation in the gene Col7A1 into two subtypes:

  • Autosomal Recessive Dystrophic Epidermolysis Bullosa (RDEB): The most severe form of DEB. It can cause blisters covering all or most of the body and in the mouth and digestive tract. Patients, over time, develop fusion of the fingers and toes. Widespread scarring, difficulty swallowing, malnutrition, anemia and skin cancer are common with this type of EB.
  • Autosomal Dominant Dystrophic Epidermolysis Bullosa (DDEB): This form of EB usually has less severe complications when compared to RDEB, but there are many variations even among family members. DDEB may cause blisters and/or scarring and may result in deformed or missing nails.

Junctional EB (JEB)

Junctional EB (JEB) is caused by gene mutations in the skin that can result in a separation of the tissue, leading to instant blistering and sloughing of the skin. JEB is often seen in newborn babies and can include several serious symptoms, including blistering in the respiratory tract/airway and the gastrointestinal tract.