About Symptoms Types Causes Treatments Cure Support
What is Epidermolysis Bullosa (EB)?
Epidermolysis Bullosa (EB) is a rare genetic disease that causes the skin to blister and peel. These blisters form at the slightest touch and may appear in response to minor injury, heat or friction from rubbing, scratching, or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth and intestines.
Living with EB has been likened to living with third degree burns. It is very painful, and sufferers must be bandaged every day with dressings to protect and medicate their wounds.
As EB is a genetic disease, it is not contagious. There is no risk of 'catching' EB.
Currently, there is no cure for EB and treatment focuses on addressing the symptoms, such as infection and itching, as well as preventing pain. EB patients and their family and carers must also go to great lengths to prevent blisters from forming.
It is estimated that there are around 1,000 people in Australia who have some form of EB, and over 500,000 sufferers worldwide. EB occurs in all racial and ethnic groups and affects males and females equally.
Most types of EB are inherited and the condition usually shows up in infancy or early childhood however, some people don't develop symptoms until adolescence or early adulthood. In many countries, children with EB are known as "Butterfly Children" because their skin is as delicate as a butterfly's wings. Often these children are also referred to as "cotton wool babies".
Rove McManus Presents: EB in 90 Seconds
What are the symptoms of eb?
The key feature of all types of EB is that the skin is very fragile, leading to a tendency to develop blisters after mild trauma. Other signs and symptoms of EB may include:
- fluid-filled blisters on the skin, especially on the hands and feet due to friction
- deformity or loss of fingernails and toenails (nail dystrophy)
- internal blistering, including on the vocal cords, oesophagus and upper airway
- skin thickening on the palms and the soles of the feet
- scalp blistering, scarring and hair loss (scarring alopecia)
- thin-appearing skin (atrophic scarring)
- tiny white skin bumps or pimples (milia)
- dental problems, such as tooth decay from poorly-formed enamel
- difficulty swallowing (dysphagia)
- nutrition problems or poor growth can also occur, particularly if the blisters are in the oesophagus or stomach - blisters in these areas can make it painful to eat
Symptoms usually appear in babies and children, particularly when a toddler first begins to walk or an older child begins new physical activities that trigger more intense friction on the hands and feet.
Joshua from NSW - 4 days old - photo source: www.debra.org.au
What causes EB?
EB is usually inherited. Researchers have identified more than a dozen genes involved with skin formation that, if defective, may cause a type of EB.
The skin is made up of an outer layer (epidermis) and an underlying layer (dermis). Normally, there are 'anchors' between the two layers of skin that prevent them from moving independently of one another. In people with EB, the two layers of skin lack the anchors that hold them together, so most movement causes friction (rubbing or pressure) between the layers. This results in blisters or painful sores forming in the layers of skin.
The type of EB you have is defined by where in these layers the blisters form.
Click image to enlarge
Types of EB
There are many different names for the different types of EB. The three main types are based on which level of the skin is affected. The three types are called EB Simplex, Junctional EB and Dystrophic EB depending on what layer of the skin is affected (see above image for further detail). A fourth type of EB called Kindler Syndrome has been more recently described, where there is a mixed pattern of blistering.
How do i treat eb?
Although there is no cure for EB, patients can follow treatment plans, given to them by their doctor, to help prevent blisters from forming, and to assist with healing and the prevention of infection when a blister or wound forms.
Your doctor will be able to advise you on the type of EB you or your child has, and organise the tests and treatment needed for their care. The main treatment for EB is good wound care. This assists healing and helps to prevent infection.
There are a number of steps people with EB can take to prevent blisters:
- Wear soft clothing made from natural fibres to avoid rubbing on and irritating the skin.
- Try not to get too hot.
- Wear soft mittens at night to prevent scratching.
- Use sheepskin or foam padding on surfaces that may cause friction, e.g. chairs, beds, infant car seats.
EB patients must see their doctor if their blister(s) become infected. If infection has occurred, a doctor may:
- recommend an antibiotic cream
- recommend antibiotics
- recommend a special covering for blisters that won't heal.
Photo source: www.debra.org.au, 2009
Many EB patients, their family members and carers, will find it very beneficial to discuss their condition with an EB patient support group.
Patient support groups can provide emotional support, and the opportunity to network and share stories, education on EB, and information on how to access the best possible healthcare and treatment plan.
DEBRA (Dystrophic Epidermolysis Bullosa Research Association) Australia aims to educate and support Australian families living with EB. DEBRA works to investigate and implement programs, to help EB sufferers to improve their care and quality of life.
DEBRA also offers financial and emotional support and networking opportunities for families.
Aside from its work with Australian EB patients, DEBRA works to educate healthcare professionals and the general public about EB and raises vital money for research, so that one day researchers can find a cure for this rare condition.
DEBRA is a not-for-profit volunteer-based organisation that does not receive any direct government funding.
Patients, their family members and carers, as well as healthcare professionals can contact DEBRA Australia:
DEBRA Family Support Coordinator
Mobile: 0413 967 609
DEBRA Australia Secretary/ Coordinator
Phone: (07) 4693 7003
Mobile: 0427 937 003
PO Box 226
Pittsworth QLD 4356
National EB Dressing Scheme
Introduced in 2009, the National EB Dressing Scheme is an important initiative for many Australian EB patients.
The Scheme supports people with EB who are most in need, by improving access to appropriate dressings and bandages, which can be costly. Dressings help to reduce infection, complications, and unnecessary hospitalisation.
The National EB Dressing Scheme is funded by the Australian Government and administered by Brightsky Australia.
Find out more about the National EB Dressing Scheme, including the eligibility criteria.
Australasian College of Dermatologists A-Z of Skin: Epidermolysis bullosa