Epidermolysis bullosa (EB) is a genetically inherited blistering skin disease. Blisters are caused by minor friction or trauma and can be debilitating for patients and their families. In addition, the blisters can affect the oral mucosa, digestive tract, and other organs. A multidisciplinary approach is necessary to help patients and their families not only treat blisters, but ensure they receive proper nutrition, assess their mental health, provide pain management, among other necessary interventions to improve patients’ quality of life.
In an interview with The Dermatologist, Marissa J. Perman, MD, a board-certified pediatric dermatologist , section director of dermatology at the Children’s Hospital of Philadelphia (CHOP), and director of the Epidermolysis Bullosa Multidisciplinary Clinic, discusses the impact of this disease and how the multidisciplinary EB clinic helps patients and their families.
The Dermatologist: When did you become interested in researching and treating EB?
Dr Perman: I trained first as a pediatric resident and then a dermatology resident at Cincinnati Children's Hospital from 2005 to 2011 where my mentor, Anne W. Lucky, MD, directs a large EB Center. She taught me so much about taking care of patients with EB. Because of my background in general pediatrics, I enjoyed the challenge of taking care of this complex disease that reaches far beyond the skin in many of the patients.
When I came to CHOP, we were seeing patients with EB but not utilizing the multidisciplinary approach that I was used to seeing at Cincinnati Children’s. I wanted to develop a similar program that could serve patients on the East Coast and beyond.
At the EB Multidisciplinary clinic, we treat all forms of inherited EB.
The Dermatologist: What areas of EB do you primarily study? What areas require further research?
Dr Perman: I work closely with our research director, Dr. Leslie Castelo-Soccio, MD, PhD, who directs our research program and runs the clinical trials for EB at CHOP.
All forms of EB require further clinical and translational research. One of the challenges of finding a cure for EB is the sheer number of mutations that are associated with this disease which makes identifying gene therapy more difficult. However, gene therapy will likely be the most important research moving forward. In the meantime, clinical trials for local therapy such as topical therapies focused on novel ways of wound healing for multiple types of EB currently exist. Studies are also underway to find new approaches to introducing the missing protein back into the patient’s skin. These studies are mainly focused on recessive dystrophic EB since there is a single protein affected (Collagen 7).
The Dermatologist: Could you discuss your multidisciplinary clinic for EB and how it accepts and treats patients? What is the value of having this clinic for this patient population?
Dr Perman: The EB Multidisciplinary clinic is a comprehensive clinic that provides interdisciplinary care for pediatric patients with EB. The clinic includes many specialties including dermatology, wound care, gastroenterology, nutrition, pain management, psychology, physical and occupational therapy, social work, research and child life. The families spend an afternoon in our clinic being seen by most or all of the specialties depending on their needs.
Following clinic, we have an interdisciplinary team meeting to discuss each patient’s individual needs going forward and plan for treatment and follow up. Additional care may then be provided through individual outpatient appointments, which our clinic coordinator helps to coordinate, or inpatient care and follow up in EB clinic. The clinic coordinator may schedule appointments with other specialists as needed and can coordinate these appointments if families are coming from out of town and need to stay for a few days.
Ultimately, the families get to see multiple specialists in a short period of time without having to drive back and forth multiple times to CHOP, as well as are given a comprehensive care plan decided on by our team as a whole. This is important for these families who have time intensive care-giver needs, and many of our patients have issues with mobility.
The Dermatologist: What are some of the challenges for treating EB?
Dr Perman: First and foremost, we have no cure for this very difficult disease. We are mainly providing supportive care and treating the many issues associated with the disease with wound care, medication, and education to the patient and their family. The children live with pain and itching that is chronic and difficult to manage, and this can lead to incredible stress for the families and the child. We are always following the patients very closely for the risk of developing aggressive skin cancers that can be difficult to detect in chronically blistered skin and are hard to successfully treat. Lastly, one of our biggest challenges is adult transition. Our team is made up of pediatric subspecialists, so we see patients currently up to the age of 24. At that time, we work to transition them to adult subspecialists but finding ones familiar with this rare disease remains difficult.
The Dermatologist: How do you incorporate patients and their family members into the decision-making process for treating EB?
Dr Perman: Prior to arrival, we ask families to fill out a questionnaire so we can understand what their goals are for clinic even before they arrive. We spend a lot of time in clinic with the families assessing their needs and desires to attain the best quality of life possible. We follow up with families after clinic as well.
The Dermatologist: Do you have any clinical pearls for treating this disease and/or working in a multidisciplinary clinic?
Dr Perman: Working in a multidisciplinary clinic takes a lot of planning. We have become very efficient at using our electronic health record to help us prepare a single after-visit summary from all the providers, as well as a comprehensive letter to the patient’s providers outside the clinic and their family. I am lucky to have a very dedicated team working in EB clinic who go above and beyond to take care of these deserving patients.
Taking care of patients with EB can be challenging as you can see how difficult the disease is for the patient and their providers. It requires a lot of compassion and listening, and our providers are really adept at providing that compassion and care.