Introduction - epidermolysis bullosa Introduction - junctional epidermolysis bullosa Demographics Clinical features Diagnosis Treatment Outcome
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.
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.
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.
JEB Subtypes |
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Generalised severe JEB Previously known as Herlitz JEB |
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Generalised intermediate JEB Previously known as non-Herlitz JEB |
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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
See treatment of epidermolysis bullosa – general.
There is a high mortality (death) rate in JEB — especially generalised severe JEB, regardless of medical intervention.
