Introduction - epidermolysis bullosa
Introduction
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 epidermolysis bullosa simplex (EBS), the site of blister formation within skin is the epidermis, ie the uppermost layer of skin cells (keratinocytes). There are localised and generalised forms of EBS.
EBS is a rare inherited disease. Most subtypes of EBS are of dominant inheritance. This means they are passed down from an affected parent to half of his or her children. EBS occurs equally in males and females.
The table below describes the features of the differing subtypes of EBS.
EBS Subtypes |
Features |
|---|---|
Localised EBS Previously known as Weber-Cockayne |
|
Generalised EBS Previously known as Koebner |
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Generalised severe EBS Previously known as Dowling Meara |
|
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.
People with EBS learn to manage their condition very well on their own. Even those with severe generalised EBS subtype, (having survived infancy) will have normal life expectancy.
