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Junctional epidermolysis bullosa

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Junctional epidermolysis bullosa

Junctional epidermolysis bullosa is the most severe form; it is autosomal recessive and lethal.

Seen in around 20 per million births (1). There is a subepidermal split through the epidermal side of the basement membrane.

Presentation is at birth or shortly after (2).

Junctional epidermolysis bullosa can be divided into:

  • 1. Herlitz junctional EB (lethal type) - caused by mutations in the laminin 5 genes
  • 2. Non-Herlitz junctional EB (non lethal type) - caused by mutations in collagen XVII (1).

Reference:

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