Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited skin disorders that cause the skin to become very fragile. In people with EB, any trauma or friction to the skin can cause painful blisters.
Types of epidermolysis bullosa
There are three main types of EB, which are described below. The condition is classified according to where in the various layers of skin the blistering takes place.
- Epidermolysis bullosa simplex (EBS) – the blistering occurs in the upper layer of the skin (the epidermis). This is the most common type of EB, accounting for 70% of cases, and it tends to be milder than the other types.
- Junctional epidermolysis bullosa (JEB) – the blistering occurs at the junction between the epidermis and the dermis (lower layer of the skin), in a layer of skin known as the basement membrane zone. JEB accounts for around 5% of cases and is usually considered the most severe type of EB.
- Dystrophic epidermolysis bullosa (DEB) – the blistering occurs below the basement membrane zone in the upper part of the dermis. DEB accounts for around a quarter of cases.
There are many different variants of the three main types of EB. So far, researchers have classified 27 variants of the condition, and there may be more that have not yet been identified. See Epidermolysis Bullosa – Symptoms for more information about the most common variants.
How common is epidermolysis bullosa?
EB is a very rare condition. It is estimated that one in every 17,000 children born in the UK will have EB. In the UK, there are currently an estimated 5,000 people living with it.
EB affects both sexes equally. The symptoms usually begin at birth or shortly afterwards.
The faulty genes responsible for EB can be passed down through families. In some cases of EB, each person who has the affected gene shows signs of the condition. Other forms of EB are inherited differently: both parents may have the faulty gene but have no symptoms of EB and no previous history of the condition in their family. They can give birth to a child with EB if that child inherits the faulty gene from both parents.
See Epidermolysis bullosa – Causes for more information about the genetics of EB.
Outlook
There is currently no cure for EB, so treatment aims to relieve the symptoms and prevent complications developing, such as the blisters becoming infected.
The outlook for EB can vary widely depending on the type and particular variant of EB that a child has.
Overall, the outlook for EBS is fairly good because it carries a low risk of causing serious complications. However, it can often be a distressing and frustrating condition to live with, which can interfere with daily activities and career choice.
The outlook for a type of JEB called Herlitz JEB is very poor. As many as 9 out of 10 children with this form of the condition will die from a serious complication developing during their first two years of life.
The outlook for DEB can be mixed. Some cases are mild and cause no serious complications, while others are severe and can lead to skin cancer in later life.
