Highlights from lecture on port wine stains at Maui Derm Hawaii

Ilona Frieden, MD, pediatric dermatologist and world-renowned specialist in children’s skin diseases, reviews experiences as a “port wine birthmark expert” from early in her career to today: The promise of the laser, understanding pathogenesis, disease associations, and future treatment.


Ilona Frieden, MD:

Hello, my name is Ilona Frieden. I am a pediatric dermatologist at the University of California, San Francisco. And I’m really excited to be a part of Maui Derm this year. It is a meeting that I have attended for many years. And it’s always a good meeting. I have the honor of being the speaker for Alan Shalita in 2023. Alan was a very well-known dermatologist who spent his career at the State University of New York, downstate in Brooklyn, as the long-time chair there, he was a world-renowned expert. in acne. And he was just a very kind and benevolent person, but also someone who brought great passionate energy to the field. So this lecture is in his honor. And I feel very honored to have been chosen this year to give that talk. What I decided to focus on is something that’s very important to me, which is port food brands that I’ve been involved in evaluating and treating throughout my career, and kind of developing our understanding of them, and they scientific breakthroughs and what can lead to in terms of patient therapy. So my talk is really divided into 4 parts, how we historically treated port stains, and then the big breakthrough that came in 1989. That happened to be the year I started my academic career at UCSF. Part 3 of my lecture concerns a remarkable revolution that occurred in medicine. And it is the advent of next-generation sequencing that allowed us to begin to unravel the genomics of so many disorders, including port-wine-colored birthmarks. It happened in the last 2 decades but mostly from around 2010. What happened with it was we really had no idea what was causing them, we knew it had to be a developmental flaw that caused this process where the blood vessels did not form correctly. But that was about it. We knew the reasons for the vast majority of them, we know the reasons, and it was a real revelation. And then it allowed us to go back and look at our clinical observations that tend to correlate what we’ve noticed clinically, and it turned out that there were some very good, what we call phenotype genotype correlations, that is the clinical expression and actual genes that caused these, and the quick version is that virtually all of these moles are caused by genes that are oncogenes, which, in the context of cancer, promote the growth and development of abnormal cells. In a developmental context, the same genes exist in our bodies and when mutated can cause birthmarks. The last part of my talk is really about how we leverage these clinical and genomic insights to help patients even more than we can help them now. Because we know now, which we did not know at the beginning of our experience with laser, that laser is mostly not curative. Of these types of moles, it is useful. It can cause great improvements to varying degrees. But they are typically not curative, and these moles can come back.

Transcript edited for clarity

Highlights from lecture on port wine stains at Maui Derm Hawaii

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