Medications for Treatment of Epidermolysis Bullosa (EB)
There is no curative treatment for Epidermolysis Bullosa, and current medication therapy primarily focuses on wound care, pain management, and treatment of complications including squamous cell carcinoma. 1
Pain Management Medications
- Topical pain management options include lidocaine 5% plasters, which have shown good efficacy in patients with localized forms of EB 1
- Systemic pain medications include paracetamol/acetaminophen for mild pain, administered 20 minutes prior to procedures such as feeding or wound care 1
- For more severe pain, opioid analgesics including oral oxycodone/morphine may be used, though these can cause drowsiness and reduce appetite in neonates 1
- For end-of-life pain management in advanced EB with squamous cell carcinoma, opioids can be administered through various routes including topical morphine gel applied directly to painful wounds 1
Wound Care Medications
- Topical antiseptics or antibiotics are recommended to prevent secondary infection of blisters and wounds 1
- Emollients are essential for reducing friction and should be used liberally on the skin, including in the diaper area and on pacifiers for neonates 1
- Hydrogel dressings are particularly useful for wounds in the diaper area 1
- Dressings containing charcoal, honey, or silver may help reduce wound odor, particularly in malignant wounds 1
Medications for Squamous Cell Carcinoma in EB
Conventional chemotherapy agents that have been used palliatively for advanced EB-associated squamous cell carcinomas include:
Biologic agents showing promise for EB-associated squamous cell carcinomas:
- Cetuximab (EGFR antagonist) has shown favorable results in metastatic EB SCCs strongly expressing EGFR 1
- Erlotinib (oral tyrosine kinase inhibitor) may be useful for advanced disease 1
- Anti-PD1 monoclonal antibodies are being evaluated as palliative treatment for advanced or metastatic squamous cell carcinoma unresponsive to previous therapy 2
Topical treatments for early or in situ disease:
Preventive Medications
Systemic retinoids:
- Isotretinoin has been studied in a phase I clinical trial in patients with RDEB at doses up to 0.5 mg/kg/day for 8 months and was generally well tolerated 1
- Etretinate (1 mg/kg/day) has been used in a patient with keratoacanthomas in generalized intermediate junctional EB, though it showed limited efficacy 1
- Based on experience in other conditions with predisposition to cutaneous SCCs (xeroderma pigmentosum, organ transplantation), retinoids may help reduce the incidence of new tumors in high-risk EB patients 1
Experimental topical treatments being evaluated:
Important Considerations and Cautions
- Conventional chemotherapy carries significant risks in EB patients, particularly septicemia from indwelling vascular catheters and complications from neutropenia, which may outweigh potential benefits 1
- Radiotherapy for EB-associated SCCs may need to be delivered in smaller fractions to minimize the risk of severe skin desquamation 1
- When administering medications through vascular access in severe EB, special attention must be paid to securing devices without causing additional skin trauma 1
- For neonates with EB requiring parenteral nutrition, there is a higher risk of line sepsis requiring close monitoring 1
Emerging Therapeutic Approaches
- Gene therapy, protein replacement therapy, and cell-based therapies (including stem cell treatments) are being actively researched but are not yet standard of care 3, 4
- Bone marrow stem cell transplantation is being investigated as a potential treatment approach 4
- Tissue engineering approaches are in development to promote skin reconstruction 4