What are the management options for epidermolysis bullosa (EB)?

Management of Epidermolysis Bullosa

The management of epidermolysis bullosa (EB) requires a multidisciplinary approach focused on wound care, pain management, prevention of complications, and psychological support to optimize morbidity, mortality, and quality of life outcomes. 1

Wound Management

Primary Wound Care

• Wide local excision is the treatment of choice for EB-associated squamous cell carcinomas (SCCs), which are a significant complication in severe forms of EB 1
• For routine wound care:
  • Non-adherent dressings are essential to prevent further trauma during dressing changes
  • Urgotul dressing has shown good acceptability and efficacy in EB wound management 2
  • Dressings should be selected based on wound characteristics:
    • For highly exudative wounds: Use dressings designed to absorb and hold exudate away from skin to minimize maceration 1
    • For malodorous wounds: Consider charcoal, honey, or silver dressings 1

Advanced Wound Management

• For wounds with high exudate levels or odor, specialized dressings should be employed 1
• When wounds overlie blood vessels (especially in axillae or groins), prepare for potential catastrophic bleeding with:
  • Dark-colored towels to absorb blood
  • Fast-acting benzodiazepines (e.g., midazolam) for anxiety management 1
• Low-air-loss mattresses help redistribute pressure and manage high volumes of exudate 1

Pain Management

• Pain control is critical for quality of life in EB patients 1
• Multiple approaches should be used:
  • Topical morphine in hydrogel can be applied directly to painful wounds and replaced at dressing changes
  • Subcutaneous opioids can be delivered via syringe driver with cannula secured using soft silicone tape
  • Opioid patches provide sustained-release analgesia and can be removed atraumatically with medical adhesive-removal spray
  • Radiotherapy may help alleviate pain from bony metastases in advanced cases 1
• For end-of-life care, prioritize pain relief without concerns about tolerance or addiction to opioids 1

Management of Complications

Squamous Cell Carcinoma (SCC) Management

• Regular clinical surveillance for SCC in at-risk patients with EB is essential 1
• Biopsy suspicious areas for histological evaluation 1
• Treatment options include:
  • Wide local excision (first-line treatment)
  • Amputation when excision is not possible
  • Radiotherapy for inoperable tumors or metastases
  • EGFR antagonists and tyrosine kinase inhibitors for palliation in advanced cases 1

Post-Surgical Management

• Various wound closure techniques can be used after SCC excision:
  • Split-skin grafting (most commonly used, typically meshed)
  • Secondary intention healing
  • Skin substitutes when donor sites are limited 1
• Prosthetics can be successfully used following limb amputation, using lightweight materials and soft padding (e.g., silicone inserts) to minimize trauma to the stump 1

Preventive Measures

• Systemic retinoids may be considered for chemoprevention of SCCs in high-risk EB patients 1
• Electrochemotherapy may be a potential treatment option for EB SCCs 1
• Photodynamic therapy may be effective for Bowen disease (in situ SCC) in EB 1
• Immunotherapy using anti-PD1 monoclonal antibody is being evaluated for advanced or metastatic SCCs 3
• Topical calcipotriol and diacerein are being investigated to improve wound healing in EB simplex 3

Psychological Support

• Psychological support is vital throughout the patient's life but becomes particularly important after SCC diagnosis and during end-of-life care 1
• Support should extend to family members/caregivers during treatment and after bereavement 1
• Focus on helping patients and families adjust to their situation and communicate concerns and wishes 1

Access to Care and Resources

• Access to appropriate wound dressings is a major challenge for EB patients 4
• National dressing schemes (like Australia's National Epidermolysis Bullosa Dressings Scheme) can reduce financial burden and improve quality of life 4
• Organizational support is crucial for comprehensive EB management 5

Factors Affecting Wound Healing

• Address underlying factors that impair healing:
  • Anemia
  • Malnutrition
  • Infection
  • Pruritus 6

Pitfalls and Caveats

• Conventional chemotherapy for EB SCCs carries risks of septicemia from indwelling vascular catheters and neutropenia that may outweigh benefits 1
• Autologous skin grafting may be complicated by delayed healing of donor sites 1
• Interpretation of frozen sections in EB SCCs may be difficult; differentiating SCC from pseudoepitheliomatous hyperplasia can be challenging 1
• The fragility of EB skin requires special consideration when performing surgical procedures 1