The role of a dermatologist often extends beyond therapies and treatment. As we recognize Rare Disease Day this February 28, it is an appropriate time to reflect on how dermatologists are called upon to care for patients who require not only excellent medical treatment, but also comprehensive support and advocacy.
Established and coordinated by Rare Diseases Europe (EURORDIS) in 2008, Rare Disease Day plays a crucial role in raising awareness and driving advocacy efforts on behalf of the 300 million people worldwide living with a rare disease, including the 6.8 million affected by rare skin conditions. The day serves as a powerful focal point, with EURORDIS and more than 70 national alliance patient organizations uniting the international rare disease community and bringing attention to around 800 rare skin diseases, including epidermolysis bullosa (EB).
Understanding EB
Recently, EB has experienced meaningful advances in the therapeutic pipeline, particularly for recessive dystrophic EB (RDEB) and DEB. Targeted therapies such as Zevaskyn (prademagene zamikeracel), an FDA-approved treatment for adult and pediatric RDEB that addresses chronic, debilitating wounds, and Vyjuvek (beremagene geperpavec), a noninvasive, topical, re-dosable gene therapy that allows patients to apply treatment and manage wound dressings at home, offer important new options for patients and clinicians.
“Patients with rare genetic skin disorders have longed for highly effective therapies for decades,” noted Christopher G. Bunick, MD, PhD, associate professor of dermatology at Yale School of Medicine in New Haven, Connecticut. “Recessive dystrophic epidermolysis bullosa is a devastating genetic skin disorder with high unmet need. Patients lack functional collagen VII, and it leads to poor healing wounds.”
Caused by mutations in genes responsible for proteins that anchor the skin layers together, EB weakens the dermo-epidermal junction, making the skin prone to separation and blistering. More than 300 mutations have been identified across at least 16 genes, including those coding for keratins, laminins, and type VII collagen.
Yet even as promising new therapies are discovered and approved, patients with EB — along with their families and caregivers — continue to rely on their dermatology teams for support that goes beyond treatment, turning to them for education, coordinating care, and long-term guidance.
A Bigger Role
EB affects more than 25,000 people in the United States alone, and dermatologists play a comprehensive role in managing the condition. Treating EB involves far more than wound care and symptom management; it requires an ongoing commitment to holistic, patient-centered support.
Comprehensive care for patients with EB includes:
Genetic Counseling: Offering guidance on the genetic aspects of EB and discussing implications for family planning.
Psychological Support: Addressing the emotional impact of living with EB and connecting patients and families with coping resources.
Nutritional Guidance: Supporting proper nutrition to promote skin health, healing, and overall well-being.
Social Work Services: Assisting with the social and emotional aspects of living with EB, including support for mobility and appearance.
Patient and Family Education: Educating patients and families about the condition, treatment options, wound care, and lifestyle adjustments necessary for managing EB.
Ideally, dermatologists collaborate closely with a multidisciplinary team to develop individualized treatment plans tailored to each patient’s unique needs. This approach helps improve quality of life and reduce the complications associated with EB. These may include fragile skin that blisters easily, painful sores and slow-healing wounds, blisters on hands, feet, knees, and elbows — and in some cases internal involvement — as well as nail abnormalities, pigmentation changes, and scarring in more severe cases of the disease.
Concluding Thoughts
This year’s key message from the Rare Disease Day Organization is “More Than You Can Imagine,” a concept that aptly reflects the expanded role dermatologists assume when caring for patients with EB. February 28 serves as a reminder that effective healthcare goes beyond administering therapies — it also means supporting patients, families, and caregivers, as they navigate and strive to thrive despite the challenges of living with a rare disease like EB.
