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Conditions We Treat

Epidermolysis Bullosa (EB) Clinic

EB is a group of incurable skin conditions that most often manifest as recurring blisters. While there's currently no cure, with detailed and continuous care, symptoms can be alleviated and complications prevented.

There are several forms of EB, and conditions range from mild to severe. Depending on the type of EB and its severity, symptoms may include blisters, scarring, difficulty swallowing, malnutrition, tooth decay, hair loss, hoarse cough, deformed nails, white bumps on the skin, and fused fingers and toes.

EB Simplex

EB Simplex is typically 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. This leads to blistering on the top layer of skin.

  • Symptoms include:
    • Blisters and thickening of skin, particularly on the hands and feet
  • Complications may include:
    • Blisters in the mouth and esophagus, anemia, atrophic skin (depressions in skin), slow growth, white bumps on the skin (milia)

Dystrophic EB (DEB)

Dystrophic EB is notable for scarring of the skin, with three main subtypes:

  1. RDEB-HS (autosomal recessive dystrophic epidermolysis bullosa – Hallopeau-Siemens) – the most severe form of DEB
    • Symptoms include:
      • Blisters covering all or most of the body and in the mouth and digestive tract
    • Complications may include:
      • Scarring, difficulty swallowing/malnutrition, fused fingers and toes, deformed limbs, skin cancer
  2. Non-HS RDEB (non-Hallopeau-Siemens-type autosomal recessive dystrophic epidermolysis bullosa) – usually a less severe form than RDEB-HS
    • Symptoms include:
      • Blisters on all or most of the body
    • Complications may include:
      • Scarring in blistered areas, deformed nails
  3. DDEB (autosomal dominant-type dystrophic epidermolysis bullosa) – typically, symptoms are mild
    • Symptoms include:
      • Blisters on all or most of the body
    • Complications may include:
      • Deformed or missing nails

Junctional EB (JEB)

Junctional EB is caused by gene mutations in the skin that can result in a separation of the tissue. This can lead to instant blistering. JEB is often seen in newborn babies and can include a number of serious symptoms, including blistering in the respiratory tract and the gastrointestinal tract.

  • Symptoms include:
    • Blistering at birth, deformed nails, internal blistering, difficulty breathing and a hoarse cry
  • Complications may include:
    • Dehydration, electrolyte imbalance, infection, hair loss, malnutrition, malformation of stomach and intestines
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