junctional epidermolysis bullosa
Last reviewed 10/2023
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).
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