What is the recommended treatment plan for patients with epidermolysis bullosa?

Treatment Plan for Epidermolysis Bullosa

The recommended treatment plan for epidermolysis bullosa (EB) should focus on wound care, pain management, prevention of complications, and early detection of squamous cell carcinoma, with specific approaches tailored to the EB subtype. 1

Wound Care Management

Preventative Care

• Implement preventative handling techniques to reduce friction and blistering:
  • Keep neonates and patients wrapped during examinations
  • Use water-based lubricants under face masks
  • Apply emollient to feeding tubes and suction catheter tips
  • Use silicone medical adhesive removers (SMARs) for any tape removal 1

Wound Dressing Protocol

• Attend to wounds one limb at a time, keeping patient wrapped throughout
• Use silicone-based non-adherent dressings as primary wound contact layer
• Secure dressings with gauze bandages or tubular bandages instead of tape
• Apply emollient to scalp wounds rather than shaving hair
• Avoid antimicrobials as first-line wound treatment for neonates 1

Blister Management

• Lance new blisters with sterile needle parallel to skin surface
• Gently express fluid while keeping blister roof intact when possible
• Cover with appropriate non-adherent dressing
• Review blisters with each diaper/nappy change to respond quickly 1

Pain Management

• Administer pain medication 20 minutes prior to dressing changes or feeding
• Use paracetamol/acetaminophen as first-line pain management
• For severe pain, consider opioids (oral oxycodone/morphine) with awareness they may cause drowsiness
• For wound-related pain, topical morphine in hydrogel can be applied directly to painful wounds 1

Nutritional Support

• Support feeding tolerance through pain management and friction reduction:
  • Apply emollient to pacifiers and bottle teats
  • Use specialized feeding techniques with emollient-coated utensils
  • Consider parenteral nutrition in severe cases with significant oral involvement
  • Monitor growth parameters regularly 1

Squamous Cell Carcinoma (SCC) Surveillance

High-Risk Groups

• For RDEB-SG patients: full skin examination every 3-6 months from age 10
• For other EB subtypes: screening from age 20 years every 6-12 months
• After SCC diagnosis: increase to 3-monthly screening 1, 2

SCC Warning Signs

• Non-healing wounds lasting longer than 4 weeks
• Rapidly growing wounds, especially if heaped up
• Deep, punched-out ulcers with raised or rolled edges
• Areas of hyperkeratosis with raised skin around them
• Wounds with altered sensation compared to normal EB wounds 1

SCC Treatment

• Wide local excision is the treatment of choice with 2-cm margins when possible
• For tumors ≥5cm or with symptoms of metastasis, perform appropriate imaging
• Consider amputation when excision is not possible due to anatomical constraints
• Regional lymph node dissection if nodal involvement is confirmed 1

Daily Care Management

Bathing and Hygiene

• Use pain medication before bathing
• Clean using dabbing technique rather than rubbing
• Clean limb by limb during wound care
• Use emollient to clean diaper/nappy area 1

Clothing and Protection

• Use soft, non-restrictive clothing
• For diapers/nappies: remove outer elastic layer around legs to reduce friction
• Use diaper/nappy liner covered in emollient 1

Psychological Support

• Offer ongoing education and psychosocial support
• Provide genetic counseling to outline inheritance patterns
• Connect families with DEBRA organizations for peer support
• Offer psychological support for both patients and caregivers, particularly vital after SCC diagnosis 1

Emerging Therapies

While standard care focuses on wound management and prevention of complications, several emerging therapies are being investigated:

• Gene therapy
• Protein replacement therapy
• Cell therapy (allogeneic fibroblasts, mesenchymal stromal cells)
• Bone marrow stem cell transplantation 3, 4

Discharge Planning and Follow-up

• Establish organizational and health system support with individualized care plan
• Provide contact information for EB specialist and local health providers
• Ensure parents/caregivers demonstrate competence in EB management before discharge
• Schedule regular follow-up appointments based on EB subtype and complications 1

Common Pitfalls to Avoid

• Using adhesive tapes or dressings directly on skin
• Nursing neonates in incubators (heat/humidity exacerbates blistering)
• Rubbing or friction during cleaning
• Delaying treatment of suspicious lesions that could be SCC
• Neglecting nutritional status and growth monitoring
• Inadequate pain management during procedures 1

The comprehensive management of EB requires a multidisciplinary approach with dermatologists, wound care specialists, pain management experts, nutritionists, and psychological support. Early intervention, proper wound care, and vigilant monitoring for complications, especially SCC, are essential for improving quality of life and reducing morbidity and mortality in patients with EB.