Junctional epidermolysis bullosa

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:

• 1. Moss C. Skin and kin. J R Soc Med. 2005;98(5):200-202
• 2. Dinulos J.G.H, Zembowicz A. Case 32-2008 - A 10-Year-Old Girl with Recurrent Oral Lesions and Cutaneous Bullae. NEJM 2008;359:1718-1724