Karan Lal, DO, MS, director of pediatric dermatology and cosmetic surgery at Affiliated Dermatology Scottsdale, recently discussed his experience treating Epidermolysis Bullosa (EB), a rare genetic disorder characterized by blistering and fragility of the skin and mucous membranes.
EB is also known as ‘Butterfly Disease’ because those with the condition experience extreme skin fragility prone to everyday wounds from the smallest of touches. There are different types of EB, with some being more common than others, each represented by an underlying gene mutation that dictates where on the body the blistering occurs as well as which layer of the skin is affected.
During his discussion with HCPLive, Dr. Lal revealed EB is a multifaceted and multi-system disease with many elements. Looking at the relationship between genotype and phenotype, Dr. Lal mentions that it’s no longer the case that having a particular genotype would dictate your phenotype.
“Now we’re learning that it is more complex. That different mutations or the same mutations can cause different physical manifestations. It’s becoming a little bit easier and harder at the same time because we know more, right? The more you know, the harder it is. But it is also becoming easier to then find therapeutic targets because we know so many of these mutations now.”
Dr. Lal also discussed the many difficulties and pain experienced by those suffering from EB, explaining that it is truly a multi-disciplinary disease, often requiring visits to multiple providers including dermatologists, cardiologists, nutritionists, geneticists, and others. He states, “When you’re thinking about these patients, you can’t just think about treating the skin because, especially depending on the type they have, these are multi-disciplinary diseases and it’s your responsibility and your duty to make sure you are doing the best that you can to coordinate all that care.”
Referring to a recent phase three trial on a topical gene therapy known as B-VEC, Dr. Lal expresses his excitement for this new treatment which saw over half of the patients showing complete wound closure after six months. “This to me is a major breakthrough and I’m excited for when this does get approved.”