Epidermolysis Bullosa

Department in Depth

What Is Epidermolysis Bullosa (EB)

Epidermolysis Bullosa (EB) is a rare genetic (inherited) skin blistering condition that is inherited from one or both parents – affecting 1 in 18,000 newborn children in Ireland.

It is not a contagious disease - you cannot "catch" EB - and there is currently no cure.  There may be some family history of EB.  A parent, grandparent, aunt or uncle may also be prone to blistering.

People who have EB suffer from fragile skin.  Blistering is caused by minimal friction (rubbing) on the skin. The majority of people affected, experience localised blistering (hands & feet) resulting in painful wounds particularly in the summer time. The individuals affected with the more severe forms, experience extensive external wounds and scarring, internal blistering leading to general debilitation, deformity and disability.

More information on EB can be found on www.debraireland.org



An overview of the National Service For Adults And Adolescents with EB.

Since February 2002 the National Service For Adults And Adolescents with EB has been based in the Department of Dermatology, St James’s Hospital, Dublin.

In view of the complexity and variety of ways in which EB affects individuals and families a specialized multi-disciplinary team approach is employed by the National Service to provide such care.  (For details about the multidisciplinary team in SJH use link.)

The multidisciplinary approach has been recognised internationally as the means of best practice.  It ensures continuity of care and reduces the need for patients to constantly retell their details to hospital staff.

The multidisciplinary approach ensures that the medical, paramedical and non-medical needs of individuals and families living with EB are addressed in a holistic way.

Some of the medical/nursing issues, which are addressed, include:

  • Necessary precautions are taken to prevent trauma and blistering.
  • Acceleration of wound healing.
  • Follow-up regarding pain control.
  • Early treatment of complications.
  • Referral to genetic counselling when appropriate.

 

Some examples of routine paramedical issues include:

  • Nutritional and dietary advice.
  • Enhancement of mobility.
  • Optimising independent living.
  • Physical exercises to decrease contractions of limbs and joints.
  • Psychological therapy.
  • Emotional support for individuals, families and carers.
  • Practical advice re services and entitlements.
  • Advocacy for services on behalf of patient/family.

A unique element of the National Service is the strong emphasis on “Outreach” to the patients who have severe forms of EB.  Outreach involves regular visits to the patient and carer in his/her own home by the EB Liaison nurse, Occupational therapist, Physiotherapist or Social worker as required with the consent of the family concerned.   Outreach by the multi-disciplinary team provides a critical link between the hospital, the community services and the family/individual affected by EB.

The EB Liaison nurse also provides relevant education and support to key personnel in both the hospital and community settings.

In summary the members of the multi-disciplinary team are available to support EB patients at traumatic times in their life, whether during a hospital admission for surgery or as they embark on the challenges of finding suitable employment or set about converting a room into a wheelchair accessible bathroom.

The team works closely with the EB service for children based in Crumlin Hospital and with the patient support group DEBRA Ireland. 

The core multidisciplinary team in the National Service for Adults and Adolescents with EB works closely with other specialities within St. James’s Hospital to provide a comprehensive range of services for the patent as required.