Epidermolysis Bullosa (EB)

Emergency Management

It may be important to consider the following when managing individuals living with epidermolysis bullosa (EB) at emergency departments/services:

Special care is required when treating and handling EB individuals who have fragile skin that can injure easily. DEBRA Australia’s page on DEBRA International Clinical Practice Guidelines includes clinical care recommendations, such as for skin and wound care, foot care, pain management and others.

Below are some emergency care recommendations from other countries that may be useful:

• Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases
• Caring for Pediatric Patients with Epidermolysis Bullosa in the Emergency Department (United States)

Clinical Care Guidelines

DEBRA International is undertaking a long-term initiative to develop clinical practice guidelines (CPGs) for epidermolysis bullosa (EB), which provide recommendations for clinical care based on evidence gained from medical science and, when no evidence exists, on expert opinion.¹ Please visit DEBRA Australia’s page on DEBRA International Clinical Practice Guidelines.

Synonyms

Acantholysis bullosa; Inherited epidermolysis bullosa; Epidermolysis bullosa hereditaria; Hereditary epidermolysis bullosa

Personal Stories

Epidermolysis bullosa (EB) varies between individuals, and each person’s experience is unique.

Please visit DEBRA Australia: Our Stories and EB Research Partnership Australia: Life with EB Disease to read the personal stories of people living with EB.

Personal Stories shared with Rare Voices Australia:

• Dean’s Story
• Lylah’s Story
• Renae’s Story

If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.

Symptoms

Epidermolysis bullosa (EB) is characterised by fragile skin that can injure easily, causing blisters and wounds.^1,2 These blisters can occur anywhere on the skin and in the mouth (oral cavity), and in some cases affect the eyes, respiratory tract, digestive (gastrointestinal) system, and genital and urinary (genitourinary) system.³ The wounds may be slow to heal and can become inflamed, infected and at times cause scarring.¹ Blisters in the mouth, digestive and genitourinary system can cause difficulty eating, malnutrition, poor growth and constipation.²

The extent of the symptoms varies between the different types of EB and can range from mild to severe.^1-3 With the mild cases of EB, there may be only a few blisters affecting mostly the hands and feet with low likelihood of scarring.^1,2 In the severe cases, the wounds may be extensive and painful with increased risk of infections.¹ This can result in disabilities affecting daily life and complications, some of which can be life-threatening.^1,4 Complications of EB depends on the type of EB and include, but may not be limited to, sepsis, anaemia, osteoporosis, kidney disease, respiratory issues, and skin cancer.^1,3

Please speak to your medical team to learn more about the symptoms and complications of a specific type or subtype of EB.

Cause/Inheritance

Epidermolysis bullosa (EB) is a group of genetic conditions and is caused by genetic changes in specific genes that are involved in skin structure, integrity and repair.^3,6  These genetic changes result in fragility of the skin.³

EB is a heritable condition and can be inherited in either an autosomal dominant or autosomal recessive manner depending on the type of EB.^3,6

More information on the relevant inheritance patterns can be found at:

• Centre for Genetics Education: Factsheet on autosomal dominant inheritance
• Centre for Genetics Education: Factsheet on autosomal recessive inheritance

If you would like to learn more about the inheritance and impact of a particular type of EB, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis

Diagnosis of epidermolysis bullosa (EB), including the identification of the particular type of EB, may be made based on detailed family history, clinical examination for characteristic signs of EB and a skin biopsy to identify structural abnormalities in the skin.^az Genetic testing may be used to confirm the diagnosis.^1,3,4

In cases where there is a family history of EB, and the causal gene and its genetic change has been identified, prenatal diagnosis may be an option.¹

Differential diagnosis (to rule out other conditions), particularly in the newborns, include infections, pompholyx, immunobullous disease, porphyria, ichthyoses, palmoplantar keratoderma, Ehlers-Danlos syndromes (EDS), incontinentia pigmenti, Poikiloderma syndromes, Bullous mastocytosis and Epidermolysis bullosa acquisita.^3-5

Treatment

There is no curative treatment for epidermolysis bullosa (EB), but there are strategies to manage the symptoms, reduce the development of new blisters and infection, and promote skin healing.^az Management of EB typically involves a multidisciplinary medical team and may include strategies such as:^1-4

• gentle handling to reduce friction or rubbing against the skin
• use of appropriate clothing and footwear, such as loose-fitting clothing
• keeping cool whenever possible
• draining of new blisters in a sterile manner to relieve pain and limit its growth
• treating of wounds and prevention of infections using creams, dressings and antiseptic washes as appropriate
• targeted antibiotic use
• pain management
• management of nutritional deficiencies
• monitoring for complications, including cancer

Individuals with an EB diagnosis may be eligible to access approved dressings through the government-subsidised National Epidermolysis Bullosa Dressing Scheme. An Australian Government Department of Health and Aged Care: National Epidermolysis Bullosa Dressing Scheme administrator is available for contact to help with the costs of epidermolysis bullosa (EB) treatment.

There may be other management strategies that have not been listed here. It is best to speak with your medical team to learn more about suitable management strategies for EB. Treatment will depend on an individual’s specific symptoms and complications.

Clinical Care

Healthcare professionals involved in the treatment of epidermolysis bullosa (EB) may include general practitioners (GP), neonatologists, paediatricians, geneticists, dermatologists, specialists EB nurses, gastroenterologists, pain specialists, endocrinologists, oncologists, urologists, otolaryngologists (ear, nose and throat or ENT specialists), cardiologists, plastic surgeons, ophthalmologists, dentists, podiatrists, dieticians, psychologists, occupational therapists, physiotherapists, and orthotics.^2,4 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.  

Please visit DEBRA Australia: EB Nurse Program for information on EB nurses in specific state hospitals.

Research and Data

Information on epidermolysis bullosa (EB) research in Australia can be found at:

• EB Research Partnership Australia: EB Funded Projects
• Cure EB Foundation: Research
• DEBRA Australia: Research

Please visit Australian Clinical Trials to learn about clinical trials for EB in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for EB in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Cure EB RVA Partner Australian Organisation
Website: https://cureeb.org.au/

Cure EB is a charity dedicated to funding medical research to find effective treatments and, ultimately, a cure for Epidermolysis Bullosa (EB). Their mission is to fund ground-breaking research, accelerate treatments, and bring hope to those living with Epidermolysis Bullosa (EB). They are dedicated to driving scientific advancements that will lead to a cure.

DEBRA Australia RVA Partner Australian Organisation
Website: https://www.debra.org.au/
Contact form: https://www.debra.org.au/contact/

DEBRA Australia is a not-for-profit organisation that provides support to those living with Epidermolysis Bullosa (EB), a group of debilitating and often life-threatening skin blistering diseases.

Through the generosity of donors, DEBRA Australia carries out their mission to enhance the lives of children and adults with EB. DEBRA Australia provides essential services including an EB Nurse and Family Support Program, medical supplies, aids and equipment, and EB research.

EB Research Partnerships Australia RVA Partner Australian Organisation
Website: https://ebresearch.org.au/
Phone: +61 (0) 438 442 263
Email: [email protected]

EB Research Partnership Australia is a not-for-profit funding research aimed at treating and ultimately curing Epidermolysis Bullosa. Their mission is to raise funds to invest in science & medical research that will lead to products and therapies for treating and ultimately curing Epidermolysis Bullosa, a group of life-threatening skin disorders that affects children from birth.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Support Services/Resources

Below are available support services and resources specific for individuals with epidermolysis bullosa (EB), including their families:

• Independence Australia: National Epidermolysis Bullosa Dressing Scheme – supports people with epidermolysis bullosa (EB) by providing affordable access to specialised bandages and dressings
• Australian Government Department of Health and Aged Care: National Epidermolysis Bullosa Dressing Scheme administrator – provides help with the costs of epidermolysis bullosa (EB) treatment.
• DEBRA Australia: Family Support Program
• DEBRA Australia: Butterfly Breaks
• DEBRA Australia: EB Services
• EB Research Partnership Australia: EB Resources

For information on available government and social services that provide support for all individuals with a rare disease, please visit the National and State Services pages.

Mental Health

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful.

Information about relevant mental health and wellbeing support can be found at:

• RARE Portal: Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

DEBRA Australia’s Professional Counselling program can assist families to access professional counselling with psychologists who have experience in managing chronic illness and have had some background training about epidermolysis bullosa (EB) and its impact on individuals and families.

Other

Further information on epidermolysis bullosa (EB) can be found at:

• The Royal Children’s Hospital Melbourne: Epidermolysis bullosa
• The Sydney Children’s Hospitals Network: Epidermolysis bullosa handbook
• Children’s Health Queensland: Epidermolysis bullosa
• Genetic and Rare Diseases (GARD) Information Center: Epidermolysis bullosa
• National Organization for Rare Disorders (NORD): Epidermolysis Bullosa
• EB Research Partnership (United States of America)

References

1. The Australasian College of Dermatologists (ACD). A to Z of skin: Epidermolysis Bullosa. 2019. Updated April 2023. Accessed 7 November 2024. https://www.dermcoll.edu.au/atoz/epidermolysis-bullosa/
2. The Royal Children’s Hospital Melbourne. Epidermolysis bullosa. Reviewed August 2020. Accessed 7 November 2024. https://www.rch.org.au/kidsinfo/fact_sheets/Epidermolysis_bullosa/
3. National Organization for Rare Disorders (NORD). Epidermolysis Bullosa. 2013. Updated 22 January 2024. Accessed 7 November 2024. https://rarediseases.org/rare-diseases/epidermolysis-bullosa/
4. Khanna D, Bardhan A. Epidermolysis Bullosa. Updated 11 January 2024. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Accessed 13 January 2025. https://www.ncbi.nlm.nih.gov/books/NBK599531/
5. Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epidermolysis bullosa. Nat. Rev. Dis. Primers. 2020; 6:78. https://doi.org/10.1038/s41572-020-0210-0
6. Genetic and Rare Diseases (GARD) Information Center. Epidermolysis bullosa. Accessed 7 November 2024. https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa

Page Last Updated

31/03/2025 10:00