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What is EB? | Symptoms | Causes | Types of EB | Treatment | Is there a cure? | Patient 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 degress 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 symtoms 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 include:

 

  • Fluid-filled blisters on the skin, especially on the hands and feet due to friction
  • Deformity or loss of fingernails and toenails
  • 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

 

 

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What Causes EB?

EB is usually inherited. Researchers have identified more than a dozen genes involved with skin formation that, if defectivem 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 from 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.

 
What is EB? Click image to enlarge 

 

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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

This is the most common form of EB. It is also the mildest form. The skin spilts, forming blisters in the very top layers of skin. EB Simplex usually begins at birth or in early infancy and affects mainly the soles of the feet and palms. The blisters in this form of EB usually don't result in scars.

 

Junctional EB

This type of EB is usually severe and becomes apparent at birth. A baby with Junctional EB may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords. The level of skin involved in junctional EB is the middle layer of the skin.

 

Dystrophic EB

In this type of EB the skin is fragile in the deepest layer. The term 'dystrophic' refers to the scarring that can occur following the healing of the blisters and erosions. Dystrophic EB generally becomes apparent at birth and during early childhood. The signs and symptoms of this type of EB vary widely. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other severe medical problems.

 

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How do I treat EB?

Although there is no cure for EB, patients can follow treatment plants, 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 its care. The main treatment for EB is good wound care. This assists healing and helps to prevent infection.

 

Preventing blisters

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; and
  •  Use sheepskin or foam padding on surfaces that may cause friction, e.g. chairs, beds, infant car seats.

 

Treating Infection 

EB patients must see their doctor if their blister/s become infected. If infection has occurred, a doctor will:

 

  • Recommend an antibiotic cream; 
  • Recommend antibiotics; and
  • Recommend a special covering on blisters that won't heal.

 

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Is there hope for an EB cure?

It is likely that eventual cures for EB will combine various approaches currently in development with new technologies and therapeautic concepts as yet to emerge from fundamental research into EB.

 

As EB is caused by a genetic fault, which results in a faulty skin protein being produced, a cure for EB must either:

 

  • Supply the correct gene able to make the missing protein (gene therapy);
  • Supply the missing protein (protein therapy);
  • Supply cells carrying the correct gene (cell therapy); or
  • Remove the faulty protein, and/or orovide alternative compensatory proteins, or modify the skin microenvironment.

 

A therapy that can work to correct the genetic fault is still a way off, which is why creating awareness about EB amongst healthcare professionals, politicians, and the community is of the utmost importance.

 

It is also crucial that EB patients have access to a treatment plan and support network that will improve their quality of life.

 

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Patient Support

 EB Patients at the DEBRA Australia National Camp in 2009 - photo source: www.debra.org.au

 

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 opportunity to network and share stories, education on EB, and information on how to access the best possible healthcare and treatment plan.

 

DEBRA Australia 

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:

 

Simone Baird - DEBRA Family Support Coordinator

Mobile: 0413 967 609

Email: ebfamilysupport@debra.org.au

 

Sue McKenna - DEBRA Australia Secretary/ Coordinator

Phone: (07) 4693 7003

Mobile: 0427 937 003

Email: admin@debra.org.au

 

Postal Address:

DEBRA Australia

PO Box 226

Pittsworth QLD 4356 

 

Find out more about DEBRA.

 

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, inclduing the eligibility criteria

 

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