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Epidermolysis bullosa fact sheet

Epidermolysis bullosa

Epidermolysis bullosa (EB) describes a group of rare genetic blistering disorders affecting the skin. People with EB have a fault in their DNA which stops the production of proteins. These proteins are used to hold the layers of skin together and make it strong.

EB affects the skin and internal organs, and is a genetic lifelong condition that cannot be cured.

There are four main types of EB.

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is usually a dominantly inherited condition. This means that one parent of the affected child also has the condition. However, there have been some cases where a ‘new fault’ in the gene has developed and there is no prior family history of EB. The condition can vary from very mild cases with minimal blistering to severe cases requiring regular dressings.

Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a recessively inherited condition. This means both parents carry the recessive gene but neither show physical signs of EB. JEB is often very severe with widespread blistering requiring regular dressings.

Dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) can be inherited dominantly or recessively (more severe type). The condition presents differently in each child, with some showing only mild trauma induced blistering, while others have extensive blistering to large parts of their body. In general, these blisters and wounds will leave a permanent scar once healed and often need extensive dressing management.

Kindler syndrome

Kindler syndrome is a rare subtype and is a recessively inherited blistering condition which often appears within the first year of life. Symptoms include blistering, photosensitivity and extreme gingivitis. In infancy, Kindler syndrome and DEB have similar symptoms.

Signs and symptoms

The main and most obvious symptom of EB is blistering and skin fragility. This is often seen at birth or in newborns (up to three months) and can range from small blisters to extensive skin loss. The severity of symptoms will depend on the type of EB.

How is it diagnosed?

DNA and skin testing may be required to determine the severity and type of EB. These tests will be conducted by a dermatologist and other specialists.

How is it treated?

Appropriate wound care is the most effective way to treat children with EB. Specialised dressings, designed to be gentle on the skin, will help keep the wounds clean and assist with healing.

Infants born with suspected EB should be nursed accordingly to prevent further trauma to their skin after birth.

Subsidies

In Australia, people with EB who require dressings can apply to the National Epidermolysis Bullosa Dressing Scheme (NEBDS) for subsidised products. For further information on the NEBDS and application forms please visit www.ebdressings.com.au. This is a federally-funded program and some restrictions apply.

Pain management

Pain management is important during wound care and referral to the Paediatric Persistent Pain Management Service is recommended. Your specialist will discuss pain relief options with you and methods to help manage pain during dressing changes.

Nutrition and wound healing

Evidence suggests that nutrition plays an essential role in wound healing and children with EB (particularly those with more severe types) will naturally require a higher calorie intake. It’s important that an early referral to nutritional/dietetics services is made and regular weight and growth records are kept.

Dental care

Dental care is important in all children with EB. Blistering does occur in the mouth and the use of an extra soft, children’s sized toothbrush will make brushing more comfortable. Early referral along with regular visits to your dentist for professional cleaning and fluoride treatments is highly recommended for prevention of dental cavities.

Hygiene

Bathing newborns is not recommended until early birth damage has healed. Bath oil and gentle soap free wash is recommended for all children with EB. Salt can be added to baths when your child has extensive blistering and may help with any pain experienced during the bathing process. Salt should be added at a rate of 90g per 10 litres of water to achieve a 0.9 per cent solution. Please speak to your EB nurse for further information regarding bathing and salt use.

Clothing and footwear

Loose clothing made of natural fibres is recommended for people with EB. Clothes with minimal seams, tags and elastic are less likely to cause trauma to the skin than tight synthetic clothing. There is a wide range of silk and natural fibre garments available for purchase over the internet that may help with comfort for children with EB. Shoes need to be well-fitted, soft, flexible and breathable. Your EB nurse will have a list of shoe and clothing brands that other EB patients have found comfortable.

Immunisation

Immunisations during early childhood are important to defend against serious illnesses. Routine immunisations for children with EB can be safely given according to the current immunisation schedule.

Clinics

The Lady Cilento Children’s Hospital holds several EB clinics each year. You will need a named referral from your GP (general practitioner) or paediatrician to attend these clinics.

Useful websites

DEBRA Australia: for family support and information www.debra.org.au

Contact us

Paediatric Queensland EB nurse
Burns Department
Lady Cilento Children’s Hospital
501 Stanley Street, South Brisbane 4101
t: 07 3068 2830
t: 07 3068 1111 (general enquiries)
e: CHQ_5eBurnsOPD@health.qld.gov.au

In an emergency, always call 000.

If it’s not an emergency but you have any concerns, contact 13 Health (13 43 2584). Qualified staff will give you advice on who to talk to and how quickly you should do it. You can phone 24 hours a day, seven days a week.

Resource No: FS219. Developed by Burns Department, Children’s Health Queensland. Updated: February 2017. All information contained in this sheet has been supplied by qualified professionals as a guideline for care only. Seek medical advice, as appropriate, for concerns regarding your child’s health.

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