I am a physician-scientist who focuses my clinical and research efforts on vitiligo, and therefore I think about this disease a lot – all the time, in fact. Therefore I thought it would be helpful to share my thoughts with others who are interested in vitiligo as well, particularly the patients who suffer from it and their loved ones. I want to make clear that while I am affiliated with many vitiligo organizations, my comments in this blog are my own, and do not reflect the opinions of those organizations. In addition, my research is largely focused on finding new treatments, and ultimately a cure, for vitiligo. This work is supported by a number of sources, including pharmaceutical companies, which by definition creates potential conflicts of interest. In full disclosure, here is a list of our vitiligo research supporters. Please know that, to the best of my ability, all of my comments are unbiased reflections of my understanding of vitiligo as both a physician and scientist. I do not permit advertisements on my website, and do not endorse companies or products that may advertise on other sites that may be referenced here.
Valarie Molyneaux has accomplished a tremendous amount in raising vitiligo awareness and bringing people together in a very short time. Valarie started the Vitfriends vitiligo support group in 2004, and now has a large membership with regular meetings in Boston and yearly conferences that have been really well attended (the picture is from the meeting in 2015, she’s on the far left of the picture, next to me). The group has since expanded to multiple locations across the country, including NY, CT, NC/SC, IN, DE, MN, and DC. Probably her most impressive accomplishment was in leading the first World Vitiligo Day meeting in the US, which took place in Washington D.C. this past summer of 2016. It was an incredibly successful and inspiring meeting, and has launched an annual event that will take place in Detroit this summer, 2017.
Do we truly know what causes vitiligo? Is it really an autoimmune disease? Isn’t the cause “unknown”, and aren’t there many alternative theories that are equally likely? These questions drive me nuts, but people keep asking them, so I thought I should probably take the time to answer. In fact, we know more about what causes vitiligo than any other autoimmune disease, including diabetes, thyroiditis, lupus, and others. It’s true that there have been many different ideas in the past about what causes vitiligo, from autoimmunity to cellular stress, chemicals, nerves, and genetics. And many scientists have spent a long time arguing about which one was correct. It turns out that most of them are correct, and work together to cause the clinical disease we call vitiligo.
Dr. Richard Spritz, a pediatrician and geneticist at the University of Colorado, is an interesting guy who not only does important research in genetics, but also does vintage car racing as a hobby. He recently published his third genomewide association study (GWAS) to identify genes involved in the development of vitiligo. It was a beautiful study, which added another 23 risk alleles (genes that increase the risk of getting disease), increasing the total known vitiligo susceptibility genes to about 50. This effort represents many years of work, and collaboration with physicians from all over the world who helped to recruit patients to donate their DNA, enabling the studies to identify these genes. I spend a lot of time discussing Dr. Spritz’s results with him at meetings, and thought it might be best to let him tell you about these latest results in his own words. So I sat down with him and asked him a few questions.
The Vitiligo Clinic at the University of Massachusetts Medical School (UMMS) is growing, with more and more patients calling to schedule appointments with us from all over the country, and all over the world. With only my single vitiligo clinic on Tuesday afternoons, the wait to get an appointment in our Clinic is 6 months or more. In addition, we are now officially offering the Melanocyte Keratinocyte Transplant Procedure (MKTP) for patients with stable vitiligo, and represent one of only 3 or 4 centers in the country that offers this treatment. We also added excimer laser treatment for our patients, so we knew we needed to expand the clinic to accommodate all of the vitiligo patients who wanted our help. And so I am excited to formally announce the addition of three new doctors to the Vitiligo Clinic and Research Center!
Ever since the report from Yale published about a vitiligo patient who improved after using Xeljanz (tofacitinib)and then our report about Jakafi (ruxolitinib) in another patient, there has been a lot of buzz around the use of JAK inhibitors in vitiligo. Many have asked me for updates on these new drugs for vitiligo by commenting below the blog posts, or tweeting, or emailing me, or stopping me in the hall, pulling me aside at conferences, etc. There have been no published reports since these first two, and I have to be careful speaking publicly about ongoing studies, discussions with companies, etc. But I will do my best to update you on the potential for these drugs in vitiligo.
Many of you have commented on this blog and sent emails asking about the results of a trial we conducted a number of years ago to test simvastatin (brand name Zocor) as a treatment for vitiligo. Before we became aware of the newer types of immune therapies, we were hopeful that existing, safe, and cheaper ones might be able to turn off autoimmunity and treat vitiligo. We first became interested in testing simvastatin after some observations we initially made in mice that get vitiligo. It actually worked in the mice, so we initiated a trial to test it in human vitiligo patients. . .
I just returned from the first Vitiligo International Symposium (VIS) held in Rome, Italy, where physicians and scientist from all over the world met to discuss their research. It was a great success, with over 200 participants from 32 different countries, including Italy (of course), the USA, the UK, Australia, South Africa, China, Japan, South Korea, Singapore, Germany, Egypt, Brazil, France, Morocco, Canada, India, Belgium, Taiwan, and others. The VIS was a 2-day conference that covered every aspect of vitiligo, including clinical treatments, how to measure improvement, basic science research to find out what causes vitiligo and how to find new treatments, etc.
I am sitting on the plane to Washington DC, preparing to attend the first World Vitiligo Day rally. Many are scheduled to attend, including patients, physician experts, researchers, and others who support the cause. During the rally we will listen to each others’ stories, hear from doctors who take care of vitiligo patients, learn about new research, and experience “vitiligo and the arts” through vocal performances and a fashion show. Excitement is building!
Recent Interview with DermTube.com "Ask an Expert", hosted by AdamAdam Friedman, MD about the need to understand vitiligo as a skin disease, not simply a cosmetic concern, and stresses the importance of recognizing the impact of the disease on quality of life and the patient's psyche.
Well, here it is, the vitiligo awareness video that we began working on last September, 2015! “Vitiligo: Truth, Hope and Change”, and features a variety of vitiligo patients, their family members, and physician experts. It is touching, informative, and inspirational – take a look!
Did Michael Jackson have vitiligo? First, we know that he stated that he had vitiligo, although this was not until many years after rumors were flying about his “turning white” and his many surgeries. He said that his skin started to change sometime after Thriller, which was released in 1982, so he was about 24 years old when it started. After his death in 2009, his autopsy report provided evidence that he had vitiligo. Michael Jackson was undoubtedly an incredibly talented performer, maybe one of the best in history. The self-proclaimed perfectionist who was never happy with his music or his appearance must have been very self-conscious about the white spots appearing on his skin, visible evidence of a disease called vitiligo that refuses to be ignored. Overall the discussion is complicated, as was his life, but I think there are a few things that I can clear up in this post.
One of the most frequent questions asked by my patients and their families is about the role of diet and supplements in the treatment of their vitiligo. A quick search on the internet will return many claims about how special diets, vitamins, and other supplements treat or even cure vitiligo, and others to avoid, as they supposedly make vitiligo worse. Patients often feel that this is one thing they can control in their treatment strategy, and they want to try whatever they can.
I previously blogged about a trial conducted in the US to test the ability of afamelanotide (Scenesse) to improve the response of vitiligo patients to narrow band UVB (nbUVB). More recently, Clinuvel conducted a smaller clinical trial at the National Skin Center in Singapore, and the results are promising.
Many have heard that some forms of vitiligo can be treated with surgical approaches, like skin or cellular grafts. This can be a very effective treatment for some patients, and many times the standard vitiligo treatments are no longer needed. Each procedure has pros and cons, but it seems that the cellular grafts have the best results and can cover the largest areas; this is typically called the Melanocyte-Keratinocyte Transplant Procedure, or MKTP. The caveat is that it doesn’t work for every, or even most, patients.
We recently published a report about a vitiligo patient who quickly improved after taking ruxolitinib (Jakafi), a drug that inhibits Janus Kinases (JAKs), which are important for signals that tell the immune cells where to go and what to do. This result is really exciting, because it is an oral drug that had a very rapid effect on vitiligo, improving the patient’s facial pigmentation from less than 1% to over 50% in just 4-5 months. We hypothesized that it might be effective for vitiligo because it blocks a pathway in the immune system that we have found to be critical for vitiligo.
I previously posted that we were organizing a meeting specifically for vitiligo patients in Orange, CA titled Advances in Vitiligo Research and Care, where experts from all over the world would speak about vitiligo, what causes it, how to treat it, and the progress that has been made through research. But, many couldn’t make it to the meeting, and I promised to write a summary. Here it is!
You may have already heard about the recent report by Dr. Brett King at Yale University, about one of his patients with vitiligo who responded to treatment with tofacitinib (brand name Xelganz), regaining much of the pigment in her face and hands within a few months. While only a single patient, this report is indeed very exciting, as it suggests that Jak inhibitors may provide a new effective treatment for vitiligo. We are also excited because Dr. King based his rationale for using tofacitinib in vitiligo on our research, which defined the IFN-γ signaling pathway as critical for vitiligo progression and maintenance. It supports our hypothesis that targeting this pathway would be an effective strategy for developing new treatments.
Today, June 25th, 2015, is World Vitiligo Day, and I am going to tell you how I spent my day! I had the honor and pleasure to stand with our Boston vitiligo support group, VitFriends, on the steps of the State House in Boston talking to passersby about vitiligo to raise awareness of the disease. It was sunny and HOT, but there was a lot of foot traffic during lunch hour, and we educated some and also met new friends with the disease. Then we were invited into the State House to meet with State Representative Gloria L. Fox, who listened intently to our concerns about vitiligo. We are excited to consider her the newest member of our team to help develop a plan to change the way people with vitiligo are viewed and treated in Massachusetts, the United States, and around the world.
We are organizing a meeting specifically designed for vitiligo patients! Dermatologists and scientists who have particular expertise in vitiligo will be speaking about a multitude of topics, from explaining the importance of their research, to how to treat vitiligo and work with your health insurance company to get important treatments covered.
Should someone with vitiligo get a tattoo? The answer is not straightforward, and requires some discussion about the purpose of the tattoo, the stability of vitiligo, and the expectations of the patient. Some people want to tattoo a vitiligo spot with their skin color, so that it covers the spot and their skin looks even. Others want to tattoo a picture or phrase over their spots to serve as a distraction, and others just want to get a tattoo on a part of the body that doesn’t have spots, but they heard that it might make their vitiligo worse. I will address all of these options here, as well as their pros and cons.
While genes clearly influence the risk of vitiligo, they’re not the entire answer. If genes aren’t the whole story, what else is there? This has been asked for other autoimmune diseases as well, and typically the response is “environmental factors”. But what are these factors? One very interesting environmental factor was identified in a large proportion of factory workers who developed vitiligo back in 1939. These factory workers made leather, and wore rubber gloves to protect their hands from the chemicals used in the process. But it turned out that it was the gloves themselves that contained a chemical that induced their vitiligo. The chemical is called monobenzyl ether of hydroquinone, or monobenzone. In fact, it worked so well that we use it now to remove the remaining pigment from the skin of those with widespread vitiligo, in order to make it even. It is prescribed by dermatologists as Benoquin cream.
Why do we need to continue research in vitiligo? If we’re right about what causes vitiligo, why isn’t there a cure? In fact, modern medicine can’t cure most diseases, despite knowing exactly what causes many of them. This reminds me of how difficult it is to take care of my lawn. I would love to have a healthy, green lawn without any weeds. The challenge is to kill the weeds without harming the grass. You can use a broad-spectrum herbicide on your lawn and it will almost surely kill all the weeds. The problem is that it will also kill all the grass.
A report was recently published describing a study to test the ability of afamelanotide to improve the response of vitiligo patients to narrow band ultraviolet light B (nbUVB) phototherapy. In short, the treatment worked. I was not personally involved in conducting the study, but I know the study authors personally, and they are great doctors who are well-known vitiligo specialists.
I just returned from the international Pigment Cell Conference (iPCC) in Singapore, where experts from all over the world who study diseases related to melanocytes, the pigment cells in the skin, discussed their research. It was a fantastic meeting, and overall there were 51 separate lectures on vitiligo and an additional 51 posters presented on vitiligo research.
What is beauty, and how does vitiligo affect it? In less than two weeks (August 18th), America’s Next Top Model will begin its 21st cycle to determine the winner of the reality show focused on identifying fashion models through a reality competition. This is the first time a model with vitiligo, or any skin disease for that matter, will appear as a contestant. Contestant Chantelle Brown-Young (who also goes by Winnie Harlow) has vitiligo all over her body, which is particularly visible on her face as symmetrical white spots that surround her eyes, nose, lips and chin.
Vitiligo patients are frequently told that they are at a high risk for skin cancer because they are lacking the natural protection of the skin pigment melanin against the sun’s harmful rays. The problem is that research studies don’t seem to support this warning. In fact, patients with vitiligo appear to be at a LOWER risk for skin cancer than those without vitiligo.
Obtaining funding for vitiligo research is challenging, and I just submitted a grant application to the NIH today to help us continue our studies. I thought this would be a good time to explain how this all works.
There is no simple answer to this question for a number of reasons, partly because of our still limited knowledge of the disease, and partly because different patients often mean different things by this question. For example, some want to know why them and not someone else, some are asking why this happens to anyone, others want to know the details of how it works, many want to know if they could have done something differently to avoid it, and still others want to know the chances that their children or other family members will also get it. My more inquisitive patients want to know the answers to all of these questions. Read more...