To whom should a patient with epidermolysis bullosa be referred for specialist care?

Specialist Referral for Epidermolysis Bullosa

Patients with epidermolysis bullosa should be referred to a dermatologist with EB expertise who will serve as the primary case manager, coordinating care with a multidisciplinary team that includes pediatrics, wound care nursing, nutrition, genetics, pain management, and other specialists as needed. 1, 2

Primary Specialist: Dermatology

• A dermatologist experienced in EB should direct overall care and serve as the central coordinator for all other specialist referrals, given their unique understanding of this complex genetic skin disorder 3
• The dermatologist performs essential clinical screening for complications, including full skin examinations every 3-6 months starting at age 10 years for high-risk subtypes (RDEB-SG) or every 6-12 months from age 20 years for lower-risk subtypes to monitor for squamous cell carcinoma development 1
• Dermatology acts as the patient case manager throughout the lifespan, from neonatal period through adulthood 4

Essential Multidisciplinary Team Members

Core team members that should be involved from diagnosis:

• Specialized EB nurse for wound care education, dressing changes, and preventative handling techniques 1, 2
• Pediatrician (for children) to monitor growth, development, and general health 4
• Dietician/nutritionist for nutritional support, as inadequate nutrition leads to poor wound healing, growth failure, and increased mortality 2
• Geneticist for genetic counseling, inheritance pattern discussion, and family planning support 1
• Pain management specialist to establish comprehensive pain control strategies before procedures and for chronic pain 2
• Psychologist for immediate psychological support to parents/caregivers after diagnosis and ongoing mental health support for patients and families 1, 2

Additional Specialists Based on Complications

Refer to these specialists when specific complications arise:

• Plastic surgeon for surgical management of pseudosyndactyly, contractures, and consideration of complex wound management 1, 4
• Oncologist when squamous cell carcinoma develops, particularly for tumors ≥5 cm or with metastatic potential 1
• Gastroenterologist/digestive surgeon for esophageal strictures, feeding difficulties, or pyloric atresia 1, 4
• Ophthalmologist for corneal abrasions and eye complications 1
• Dentist with EB experience for oral care and prevention of dental complications 4
• Orthopedic surgeon for limb contractures and mobility issues 4
• Endocrinologist for osteoporosis, growth issues, and metabolic complications 4
• Palliative care team for severe subtypes, end-of-life discussions, and complex symptom management 1

Timing and Access Considerations

• Immediate referral to an EB specialist center is recommended at diagnosis, with consideration for hospital transfer if the birthing hospital lacks EB expertise 1
• Contact EB specialist hospitals for guidance even if transfer is not possible, as remote consultation can support appropriate treatment 1
• Link families to DEBRA organizations (international EB patient advocacy groups) for community support and resources 1
• Neonates with EB require access to the multidisciplinary team from birth, as early intervention establishes the foundation for optimal long-term outcomes 1

Common Pitfalls to Avoid

• Do not delay dermatology referral while waiting for genetic confirmation—clinical diagnosis warrants immediate specialist involvement 1
• Avoid fragmented care where multiple specialists work independently; the dermatologist must coordinate all aspects of care to prevent gaps in management 3
• Do not underestimate the need for psychological support—families require immediate emotional support throughout the diagnostic period, not just after genetic results return 1
• Ensure continuity from hospital to community care with comprehensive discharge planning and education for local healthcare providers who will provide ongoing support 2