What is the management of epidermolysis bullosa (EB)?

Management of Epidermolysis Bullosa

The management of epidermolysis bullosa (EB) requires a multidisciplinary approach focusing on wound care, pain management, nutrition support, and prevention of complications to reduce morbidity and mortality and improve quality of life. 1

Diagnosis and Initial Management

• Early diagnosis and classification of EB subtype (EB simplex, junctional EB, dystrophic EB, or Kindler EB) is essential for appropriate management and prognosis 1
• Involve a specialized EB multidisciplinary team including dermatologists, specialist nurses, dieticians, pain specialists, and psychologists whenever possible 2
• Provide psychological support to parents and caregivers immediately after diagnosis, as this is crucial for adjustment and learning complex disease management 1

Wound Care Management

Prevention of Skin Trauma

• Use preventative handling techniques to minimize friction and shearing forces on the skin 1
• Keep neonates dressed and wrapped to reduce movement-related blistering 1
• Apply emollients liberally to reduce friction between skin and clothing, diapers, or bedding 1

Blister Management

• Drain intact blisters with a sterile needle to prevent extension, leaving the blister roof intact as a natural dressing 1
• Clean wounds using warm solutions to reduce pain during the cleaning process 1
• Attend to wounds one limb at a time, keeping the patient wrapped throughout to reduce friction-related blistering 1

Dressing Selection

• Use non-adherent dressings that minimize trauma during removal 1
• Secure dressings with gauze bandages or tubular bandages instead of adhesive tape 1
• For wounds with high exudate, use absorbent dressings designed to lock away moisture and prevent maceration 1, 3
• Consider hydrogel dressings for wounds in the diaper area 1

Infection Management

• Monitor wounds closely for signs of infection (increased exudate, odor, surrounding erythema, pain) 1
• Watch for signs of sepsis, which requires urgent intervention, especially in severe subtypes like EBS generalized severe and JEB 1
• Use antimicrobial soaks for positive wound cultures without systemic symptoms, rotating antimicrobials if using long-term 1

Pain Management

• Always assess pain using validated scales appropriate for age (e.g., NIPS or FLACC for neonates) 1
• Administer pain medication before painful procedures such as dressing changes or feeding 1
• Consider a combination of approaches:
  • For procedural pain: paracetamol/acetaminophen given 20 minutes before procedures 1
  • For severe pain: opioids may be necessary, though they can cause drowsiness affecting feeding 1
  • For wound pain: topical morphine in hydrogel can be applied directly to painful wounds 1, 3

Nutritional Support

• Nutritional support is critical, as inadequate nutrition can lead to poor wound healing, growth failure, and increased mortality 1, 4
• For oral feeding:
  • Apply emollient to bottle teats or pacifiers to reduce friction on lips and oral mucosa 1
  • Provide pain relief before feeding if oral blisters are present 1

Advanced Nutritional Support

• Consider nasogastric tube (NGT) feeding when oral intake is insufficient:
  • Use NGTs rather than orogastric tubes to reduce trauma to oral mucosa 1
  • Secure NGTs with low-adherent film contact layer to avoid direct tape contact with skin 1
• Consider gastrostomy feeding for neonates with severe EB and faltering growth when other feeding methods are insufficient 1
• In rare cases, parenteral nutrition may be considered, though with careful monitoring for line sepsis 1

Daily Care Considerations

Diaper/Nappy Area

• Use emollient to clean the diaper area 1
• Use well-fitted diapers with the outer elastic layer removed to reduce friction 1
• Place diaper liners covered in emollient to reduce movement of diaper against skin 1

Bathing

• Include pain medication in bathing management 1
• For neonates with birth trauma, initially use swaddling and clean with dabbing technique rather than rubbing 1
• Clean limb by limb during wound care 1

Long-term Complications Management

Squamous Cell Carcinoma (SCC)

• SCCs are a major cause of death in severe forms of EB, particularly recessive dystrophic EB 1, 2
• Regular skin examinations to detect early malignant changes 1
• For advanced SCCs:
  • Manage malignant wound exudate and odor with specialized dressings 1, 3
  • For tumors overlying blood vessels, prepare for potential catastrophic bleeding with dark-colored towels and fast-acting benzodiazepines to reduce anxiety 1, 3

Other Complications

• Monitor for and manage complications in other organ systems (gastrointestinal, musculoskeletal, ocular) 4, 5
• For limb contractures and pseudosyndactyly:
  • Teach parents webspace bandaging for hand wounds in neonates with RDEB to slow pseudosyndactyly development 1
  • Consider lightweight prosthetic materials with soft padding after limb amputation 1

Emerging Therapies

• Current research focuses on gene therapies, cell-based therapies, and protein replacement approaches 6, 7
• Investigational treatments include gene replacement, gene editing, RNA-based therapy, and cell-based therapies 6
• For advanced SCCs, immunotherapy using anti-PD1 monoclonal antibodies is being evaluated 7

Discharge Planning and Education

• Provide comprehensive EB education to parents, caregivers, and local healthcare providers before discharge 1
• Ensure parents are competent in daily care, including wound management, feeding techniques, and pain control 1
• Establish connection with local healthcare providers and EB specialists for ongoing care 1, 2