Medical Specialties

Types of EB in Children

The three major forms of epidermolysis bullosa are EB Simplex, Dystrophic EB and Junctional EB.

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:

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

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

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 respitory tract and the gastrointenstinal 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

Additional information and resources about EB can be found at Debra.org

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