Junctional epidermolysis bullosa

What is epidermolysis bullosa?

Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.

What is junctional epidermolysis bullosa?

In junctional epidermolysis bullosa simplex (JEB), the site of blister formation within skin is the lamina lucida within the basement membrane zone. It causes generalised blistering of the skin and internal mucous membranes of varying severity.

Who gets junctional epidermolysis bullosa?

JEB is a rare inherited disease. Most subtypes of JEB are of autosomal recessive inheritance of specific mutated genes (eg, LAMB3 gene). JEB occurs equally in males and females.

What are the clinical features of junctional epidermolysis bullosa?

How is junctional epidermolysis bullosa diagnosed?

In the dominant subtypes of EB, where an informative family tree is known, it is often acceptable for a clinical diagnosis to be made by a specialist dermatologist based on the presenting signs. Diagnostic tests are also available in some countries and include immunofluorescence antigen mapping (IFM) and/or transmission electron microscopy (EM) of a skin biopsy of a newly induced blister.

Mutational analysis (blood testing of genes) is also available in some countries

What is the treatment of junctional epidermolysis bullosa?

See treatment of epidermolysis bullosa – general.

• Where available, gel-type and silicone dressings are most suitable for infants with JEB, as they cause low degree of trauma on removal.
• Oleogel-S10, containing birch triterpenes or birch bark extract, has been shown to accelerate the healing of chronic wounds in junctional and dystrophic epidermolysis bullosa.
• Management of respiratory symptoms may include humidified oxygen and medications

What is the outcome for patients with junctional epidermolysis bullosa?

There is a high mortality (death) rate in JEB — especially generalised severe JEB, regardless of medical intervention.