What is the recommended treatment plan for a patient with epidermolysis bullosa (EB)?

Recommended Treatment Plan for Epidermolysis Bullosa

Patients with epidermolysis bullosa require immediate referral to a dermatologist with EB expertise who will coordinate a mandatory multidisciplinary team approach, with treatment centered on wound care, pain management, nutritional support, and surveillance for squamous cell carcinoma starting at age 10 years in high-risk subtypes. 1, 2

Immediate Actions at Diagnosis

• Refer immediately to a dermatologist with EB expertise who will serve as the primary case manager, even before genetic confirmation is complete 2
• Transfer neonates to an EB specialist center if the birthing hospital lacks expertise, or obtain remote consultation guidance 2
• Connect families to DEBRA organizations (international EB patient advocacy groups) for community support 2
• Provide immediate psychological support to parents and caregivers during the diagnostic period 2

Core Multidisciplinary Team Assembly

The following specialists must be involved from diagnosis:

• Specialized EB nurse for wound care education, dressing changes, and preventative handling techniques 2
• Dietician/nutritionist because inadequate nutrition leads to poor wound healing, growth failure, and increased mortality 2
• Geneticist for genetic counseling, inheritance pattern discussion, and family planning 2
• Pain management specialist to establish comprehensive pain control strategies 2
• Psychologist for ongoing mental health support for patients and families 2, 3
• Pediatrician for coordination of general health needs 3

Wound Care Protocol

Primary wound management includes:

• Apply topical antiseptics or antibiotics to prevent secondary infection of blisters and wounds 4
• Use emollients liberally on all skin surfaces to reduce friction, including diaper areas 4
• Apply hydrogel dressings for wounds in the diaper area 4
• Use dressings containing charcoal, honey, or silver to reduce wound odor, particularly in malignant wounds 4
• Develop an individualized care plan addressing factors that impair healing and patient-centered concerns 5

Pain Management Algorithm

For mild pain:

• Administer paracetamol/acetaminophen 20 minutes prior to procedures such as feeding or wound care 4

For localized pain:

• Apply lidocaine 5% plasters to affected areas 4

For severe pain:

• Prescribe oral opioid analgesics (oxycodone/morphine), though monitor for drowsiness and reduced appetite in neonates 4

For end-of-life pain:

• Administer opioids through various routes including topical morphine gel applied directly to painful wounds 4

Squamous Cell Carcinoma Surveillance

High-risk subtypes (RDEB-SG):

• Perform full skin examinations every 3-6 months starting at age 10 years 6, 2

Lower-risk subtypes:

• Perform skin examinations every 6-12 months starting at age 20 years 2

Clinical indicators requiring immediate biopsy:

• Nonhealing wound lasting ≥4 weeks 6
• Rapidly growing wound resembling exuberant granulation tissue 6
• Deep, punched-out ulcer with raised or rolled edge 6
• Area of hyperkeratosis surrounded by raised skin 6
• Wound with altered sensation (tingling or increased pain) 6

Dental surveillance:

• Six-monthly dental review to examine oral mucosae and biopsy areas of chronic ulceration or leucoplakia 6

Management of Squamous Cell Carcinoma

Every EB patient with SCC must be discussed at a multidisciplinary meeting with dermatology, plastic surgery, histopathology, and oncology before treatment. 1

Pre-operative assessment:

• Obtain MRI for SCCs ≥5 cm or overlying difficult anatomical sites (use CT if MRI unavailable) 1
• Perform ultrasound-guided fine needle aspiration if lymph nodes are clinically palpable 1
• Stage with FDG-PET/CT for primary SCC ≥5 cm in maximum diameter 1

Surgical treatment:

• Surgical excision is the standard treatment (wide local excision, Mohs micrographic surgery, or amputation) 1
• Perform regional lymph node dissection if biopsy confirms metastatic disease, ideally concurrent with primary tumor excision 1
• Do not perform elective lymph node dissection without proven nodal disease due to morbidity from regional lymphedema 1

Palliative options for inoperable disease:

• Radiotherapy delivered in smaller fractions to minimize skin desquamation 6, 4
• EGFR antagonists (cetuximab) or tyrosine kinase inhibitors (erlotinib) 4
• Conventional chemotherapy (cisplatin, carboplatin, taxol, fluorouracil) may provide some benefit but risks often outweigh benefits due to septicemia from indwelling catheters and neutropenia complications 4

Additional Specialist Referrals Based on Complications

• Plastic surgeon for pseudosyndactyly, contractures, and complex wound management 2
• Gastroenterologist/digestive surgeon for esophageal strictures, feeding difficulties, or pyloric atresia 2
• Ophthalmologist for corneal abrasions and eye complications 2
• Palliative care team for severe subtypes and end-of-life discussions 2

Preventive Strategies

• Consider systemic retinoids (isotretinoin, etretinate) to reduce incidence of new tumors in high-risk patients 4
• Educate patients and families about SCC risk and clinical features requiring immediate medical contact 6

Critical Pitfalls to Avoid

• Never delay dermatology referral while waiting for genetic confirmation—clinical diagnosis warrants immediate specialist involvement 2
• Never rely solely on clinical examination of lymph nodes—chronic inflammation causes frequent false positives; always confirm with FNA or biopsy 1
• Never underestimate psychological support needs—families require immediate emotional support throughout the diagnostic period 2
• Ensure continuity from hospital to community care with comprehensive discharge planning 2