This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Junctional epidermolysis bullosa

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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:

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.