Epidermolysis bullosa simplex
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.
What is epidermolysis bullosa simplex?
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.
Who gets epidermolysis bullosa simplex?
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.
What are the clinical features of epidermolysis bullosa simplex?
The table below describes the features of the differing subtypes of EBS.
| Localised EBS
Previously known as Weber-Cockayne
Previously known as Koebner
|Generalised severe EBS
Previously known as Dowling Meara
How is epidermolysis bullosa simplex 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 epidermolysis bullosa simplex?
See treatment of epidermolysis bullosa – general.
- Prevention of friction with particular attention to footwear.
- Attempt to avoid heat and humidity, as this exacerbates EBS.
- Some people find light-weight, ventilated shoes and cotton socks help.
- Lance blisters to prevent them getting larger and dress to promote healing/prevent infection.
- A wide range of suitable wound care products is available, including low-adherent silicone dressings.
- Those with a low tolerance to dressings, may prefer to dust and dry the wound with cornflour.
What is the outcome for people with epidermolysis bullosa simplex?
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.