Rare Diseases in Dermatology: New and Emerging Therapies 

Rare Diseases

Tune in to hear insights and updates on some of the hot topics in dermatology. In this series, we showcase expert updates on featured conditions, KOL discussions, and much more!

Topical Conversations

TC Del Rosso Rare Diseases 2/2024

For Rare Disease Day on February 29, Topical Conversations will be exploring some of the rare diseases seen in dermatology. In this installment, James Q Del Rosso, DO, reviews some new and emerging therapies for congenital ichthyoses, epidermolysis bullosa, and facial angiofibromas related to tuberous sclerosis.&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-scle-and-dermatomyositis">Watch Part 1</a> to hear Dr Todd Schlesinger discuss subacute cutaneous lupus erythematosus and dermatomyositis.<a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/videos/topical-conversations/rare-diseases-in-dermatology-tuberous-sclerosis-complex">Watch Part 2</a> to hear Dr Naiem Issa discuss tuberous sclerosis complex and a breakthrough new treatment.An emerging therapy for congenital ichthyoses&nbsp;Dr Del Rosso begins by reviewing an emerging treatment for congenital ichthyoses, a group of rare genetic keratinization disorders that leads to dry, thickened, and scaling skin and requires lifelong management.&nbsp;The Phase 3 ASCEND study is currently underway and focusing on 2 moderate-to-severe subtypes, lamellar ichthyosis and X-linked ichthyosis, that affect about 80,000 individuals in the United States. The ASCEND study is investigating the efficacy and safety of a topical isotretinoin, TMB-001, in a patented special delivery system.&nbsp;A topical formulation of isotretinoin may help reduce systemic absorption, potentially allowing for chronic use over larger areas of the body and shows promise for those affected by congenital ichthyoses.&nbsp;A new approval for epidermolysis bullosa&nbsp;Dr Del Rosso also lauds a newly approved therapy for epidermolysis bullosa, a topical gel birch triterpenes for the treatment of partial thickness wounds in patients 6 months and older with junctional epidermolysis bullosa and dystrophic epidermolysis bullosa.&nbsp;As the first FDA-approved treatment for wounds associated with junctional epidermolysis bullosa, topical gel birch triterpenes is a promising development for patients facing daily challenges from open wounds, one of the most visible and difficult-to-manage symptoms of epidermolysis bullosa.&nbsp;A topical option for facial angiofibromas&nbsp;Another recent approval making progress for rare diseases in dermatology is a topical sirolimus gel for the treatment of facial angiofibromas associated with tuberous sclerosis. By inhibiting the mTOR pathway that leads to cellular proliferation, this therapy, approved for 6 years of age and older, is a significant step forward in managing cutaneous manifestations of tuberous sclerosis.

Interview with Muneeb Shah, DO

Dermatology

Join Nicholas Brownstone, MD, as he discusses the practice of dermatology, both inside and outside the clinic. He gets to know your colleagues and gets tips on topics like time management, communicating with patients, avoiding burnout, and more!

Under Your Skin

UYS Shah 2/2024

In this episode of Under Your Skin, host Nicholas Brownstone, MD, chats with Muneeb Shah, DO, to explore some valuable advice for residents, effective time management techniques, and strategies for advertising your practice.&nbsp;<h5>What advice would you give someone just beginning residency?&nbsp;</h5>Dr Shah begins by reflecting on his residency experience, likening it to "drinking from a fire hose" due to the overwhelming influx of information. His key advice to residents is to seize this period as a valuable learning opportunity. He emphasizes the importance of asking questions and seeking insights not only on clinical matters but also on aspects like billing and operations. He encourages residents to attend conferences, network, and absorb as much knowledge as possible, as the intensity of post-residency responsibilities may leave little room for catching up on missed learning opportunities.&nbsp;<h5>What are your most useful time management techniques?&nbsp;</h5>Acknowledging his own journey to improve time management, Dr Shah underscores the significance of building a supportive team. Delegating tasks that may not be the best use of one's time to qualified team members, whether an office manager or medical assistant, allows for more efficient and strategic use of time. Additionally, he advocates for creating systems within the office to streamline patient interactions, suggesting the implementation of codes to prompt assistance when spending excessive time with a patient. Dr Shah's insights highlight the long-term benefits of optimizing team dynamics and establishing efficient office protocols.&nbsp;<h5>How do you advertise your practice?&nbsp;</h5>Dr Shah acknowledges the benefit having a large social media following has in attracting patients; however, he notes that patients discovered through social media tend to be more complex. They often seek him out after other dermatologists were unable to solve difficult-to-treat issues and have higher expectations.&nbsp;He also notes that despite having a large social media following, targeting a specific geographic area remains a challenge. Considering that, Dr Shah does not dismiss traditional advertising methods like door-to-door marketing and business card distribution to local family physicians and businesses, noting that he has seen significant success with these tactics.

Dermbusters: Elizabeth Swanson, MD

Acne

Join host Nicholas Brownstone, MD, as he chats with colleagues about the most common misperceptions heard in dermatology, and get tips on how to bust these myths for your patients!

Dermbusters

Welcome to Derm busters, where we discuss common misperceptions in the practice of dermatology. I'm Dr. Nick Brownstone, here with Dr. Lisa Swanson, dermatologist. Lisa, nice to have you here. Thanks. I want to ask you about a disease that I really never see, which is acne. That's funny. Just kidding. I see acne all day, every day. And obviously a medication network. Everyone's so familiar with accutane. Lot of misperceptions about amongst our colleagues and amongst our patients, too. So first thing I want to ask Lisa is monthly labs for Accutane. Are they needed for safety? So I would say in a short answer, no. And I've been in practice a little over twelve years. And back when I was in training, we did do labs every month. We did liver function tests. We did a lipid panel. Some providers did a CBC as well. And during my years of practice, that monitoring guideline rules have gotten less and less and less. And there was just a really great article in the jamaderm in August saying that actually we just need to check alt and triglycerides, and we just need to check them at baseline and then after two months or when the peak dose is reached. And so we really only have to check twice, and we really only have to check two things, which is great news for our patients. Yeah, I read that article, too. Really great article. So more of a myth, you would say? Yes, I would say that's a myth. And what do you tell your patients about this? When they say, oh, I want labs, I want to make sure this medication is not causing any side effects. I don't have any patients like that. Okay. My patients are very excited when they hear that. It's just two times that they have to have their blood drawn if they say less needles, that they like that. Yes, they do. Okay, that's great to hear. Next question about accutane. Does it increase risk of suicidal behavior or depression? This is very controversial. There has been a lot of stuff swirling about this for years and years and years. What I tell patients and their families, I say that there were some initial concerns about the risk of depression and suicidal ideation with patients on accutane. And because of these concerns, it has been extensively studied. Looking at studies of tens of thousands of patients that were studied on accutane. And what they've actually found in most of them is that people who go on accutane actually notice an improvement in their mood. Their skin is clearer, they're looking better, they're feeling better, their self esteem improves, their confidence improves, and so their happiness improves. And so if you look at tens of thousands of patients, you would say there is no association with suicidal ideation or depression. I do also tell my patients and their families that in my twelve plus years of practice, I have had six patients who've become depressed and had to stop the medicine. So I prescribe accutane every day. I'm a pediatric dermatologist, so six patients in twelve plus years is a pretty teeny number. I do think it does happen rarely. But if you look at all the studies, it says that most patients note an improvement in their mood. Great. Accutane, common medication. We discussed two myths, and I learned a lot. Thank you for speaking with me. Of course. Thanks for having me. Bye.

Join Dr Nick Brownstone in this episode of Dermbusters, where he chats with Dr Elizabeth Swanson to address some common misperceptions surrounding the use of Accutane that they often hear from both colleagues and patients.&nbsp;<h5>Are monthly labs for Accutane needed for safety?&nbsp;</h5>No. Dr Swanson notes that she has been in practice for over 12 years, and when she was in training, providers did do labs every month for patients taking Accutane, including a liver function test, a lipid panel, and sometimes a CBC. Since she’s been practicing, the guidelines for Accutane have recommended less and less monitoring over time.&nbsp;She references an article published in JAMA Dermatology that recommended testing only for alanine aminotransferase (ALT) and triglycerides at baseline and again at 2 months or after peak dose is reached. Dr Swanson comments that testing only twice for 2 things is great news for patients.&nbsp;Dr Brownstone asks Dr Swanson how she counsels patients when they want additional labs performed to ensure the medication isn’t causing side effects. She remarks that her patients never request that, and she generally finds they are very pleased to only need minimal blood draws for monitoring.&nbsp;<h5>Does Accutane increase the risk of suicidal behavior or depression?&nbsp;</h5>Dr Swanson notes that this is a very controversial topic. When she addresses this with her patients and their families, she explains that there were some initial concerns about suicidal behavior and depression in patients with Accutane, but because of these concerns, it has been extensively studied in tens of thousands of patients. Those studies found that most patients actually notice an improvement in their mood due to clearer skin and improved self-esteem and confidence.&nbsp;As a pediatric dermatologist, Dr Swanson prescribes Accutane daily; she reassures her patients and their families that in her years of practice, she has had only 6 patients who exhibited signs of depression and had to stop the medication. She concludes by noting that while these side effects do occur rarely, the studies support patients seeing an improvement in their mood.

MD, MBA, FAAD

Updated AAD Guidelines for Acne Vulgaris: A Summary of Key Points  

TC Barbieri 2/2024

In this episode of Topical Conversations, join John Barbieri, MD, MBA, FAAD as he summarizes some key points from the American Academy of Dermatology’s <a target="_blank" rel="noopener noreferrer" href="https://dermsquared.com/news-research/aad-updates-guidelines-for-management-of-acne-vulgaris">updated guidelines for the management of acne vulgaris</a>. These evidence-based recommendations were last updated in 2016.&nbsp;Topical treatments&nbsp;Several new treatments have emerged since the prior guidelines were released, including the antiandrogen clascoterone, the first topical treatment that addresses the fundamental hormonal causes of acne. Clascoterone, which is safe for both men and women and approved for patients 12 years and older, received a conditional recommendation for use in the new guidelines. Clascoterone demonstrates a high certainty of benefits over risks; however, a conditional recommendation was issued due to the current high cost of treatment that may impact equitable access.&nbsp;Oral antibiotics&nbsp;Sarecycline&nbsp;Sarecycline, a narrow-spectrum tetracycline, received a conditional recommendation in the updated guidelines. Sarecycline, while effective at treating acne, can have a negative impact on the gut microbiome. As an oral antibiotic, it comes with the limitations and challenges of using antibiotics in the treatment of acne; however, it poses some theoretical advantages to other antibiotics currently in use for acne treatment. The high cost of sarecycline treatment was also a factor in issuing a conditional recommendation for this treatment.&nbsp;Doxycycline and minocycline&nbsp;Notably, doxycycline received a strong recommendation in the updated guidelines while minocycline received a conditional recommendation. The conditional recommendation is supported by the potential for side effects that are unique to minocycline, including severe cutaneous adverse reactions and vestibular dysfunction. Considering this, the guidelines recommend doxycycline over minocycline for the typical patient with acne.&nbsp;This represents a departure from current practice, where both drugs tend to be used equally.&nbsp;Trimethoprim-sulfamethoxazole&nbsp;The guidelines also discuss limiting the use of antibiotics like trimethoprim-sulfamethoxazole, as these can be associated with serious cutaneous adverse reactions and acute respiratory failure. Isotretinoin The guidelines also discuss the use of isotretinoin, one of the most effective treatments currently available for acne. The updated guidelines discuss recommendations for lab monitoring and notable adverse effects like inflammatory bowel disease and neuropsychiatric symptoms.&nbsp;Spironolactone&nbsp;The guidelines also detail recommended lab monitoring for spironolactone. For healthy patients who do not have other risk factors for hyperkalemia, the guidelines advise that routine potassium monitoring is likely a low-value practice. This determination may help clinicians feel more comfortable with patients who would prefer to pursue less lab monitoring while undergoing treatment for acne vulgaris.&nbsp;Key points&nbsp;<ul><li>Clascoterone and sarecycline received conditional recommendations for use in the updated guidelines, with high cost of treatment and potential impact on equitable access contributing to the recommendation&nbsp;</li><li>Doxycycline received a strong recommendation&nbsp;</li><li>Minocycline received a conditional recommendation supported by potential for adverse effects unique to minocycline&nbsp;</li><li>Doxycycline is recommended over minocycline for the typical patient, representing a departure from current practice&nbsp;</li><li>The guidelines recommend limiting the use of trimethoprim-sulfamethoxazole&nbsp;</li><li>The guidelines advise that routine potassium monitoring for most patients on spironolactone is likely a low-value practice</li></ul>

Dermbusters: Daniel Butler, MD

Contact Dermatitis

Butler Dermbusters 1/24

In this episode of Dermbusters, our host, Nicholas Brownstone, MD, chats with Daniel Butler, MD, to discuss how he counsels patients who come to him with some common misperceptions dermatologists often hear. In this installment, Dr Butler addresses myths on scalp massage for baldness and contact dermatitis arising from deodorant use.&nbsp;<h5>Can scalp massage help prevent baldness?&nbsp;</h5>One common misperception dermatologists often hear from their patients is the belief that increasing blood flow to the scalp via scalp massage can prevent baldness.&nbsp;Dr Butler advises patients on the complexity of hair growth, emphasizing that just increasing blood flow to the scalp is not a cure-all for hair loss.&nbsp;He notes that there are some small studies that suggest scalp massage may marginally increase hair thickness; however, he clarifies that this does not equate to a viable solution for those with androgenic alopecia.&nbsp;<h5>Can deodorant cause contact dermatitis?&nbsp;</h5>Another common query from patients is whether deodorant can trigger contact dermatitis. Dr Butler addresses this concern by acknowledging that certain deodorants can indeed lead to contact dermatitis, but he emphasizes the importance of ruling out other potential causes for rashes before attributing them solely to deodorant use.&nbsp;Importantly, he reassures patients who don’t have existing rashes that using deodorant or antiperspirant should not be a cause for concern.&nbsp;When we get rashes in the armpits, patients often question what’s touching them there that can cause it. Some deodorants have been known to cause contact dermatitis, but there are other things that need to be ruled out first and foremost. If you have a rash in that area, it’s important to know that deodorant can be contributing to that. However, if you don’t have a rash and you’re using a deodorant or antiperspirant, don’t worry that it will then cause contact dermatitis.

MD, PhD, MSCI

Interview with Raj Chovatiya, MD, PhD

This is Dr. Nick Brownstone. I'm here with Dr. Raj Chauvitia, assistant professor and director of the sentiment for Eczema and itch at Northwestern University. Great to have you here. Would love to ask you a couple questions about the practice of dermatology. First thing I want to ask is, what's one change you've made in your practice in the last five years that had the biggest effect on your efficacy? That's a great question. I think one that's really important to people kind of in the first few years of their practice and think, as someone who really loves balancing clinical work and research and what I do, you oftentimes run into this dilemma of, do I see patients then? Do I do research after? And how do I combine the two of them, and how do I use all my hours in the day efficiently? And I think some of the best advice that I got early on was figure out a way to make clinic work for you. If there's research questions that you're really interested in, find a way to relate it to your patients and actually try to work those efforts into your clinical time. And so what I found is, for a lot of the work that I do to better understand some of the burden of inflammatory skin disease and some specific issues facing my patients with skin of color, I largely try to build those efforts into each and every one of my encounters. Saves me so much more time and really makes me feel like I'm combining two of the things that I love on a day to day basis. That was some great advice you got. Next question. I also want to ask about some advice. If you can go back in time to your first day of residency in dermatology, what advice would you give yourself? Sure. So, rewinding not too many years ago, or maybe it's a lot of years, you'll never know. I think that probably the best advice I got was you never know what direction your future career is going to take. So just be open to exploring opportunities you may otherwise think about. And so I think about many of the new things that I've ended up working on as it relates to both clinical interests, as it works to some of the work I do with partners in industries, some of the work that I do related to research itself. I probably couldn't have even guessed that's what I was going to be doing. But a lot of it just came through. Serendipity, hard work, and just being open to trying new projects. You'd be surprised what sorts of things you end up learning. Love that advice. Last thing I want to ask is, which innovation dermatology, are you most excited about? Okay, so you picked the hardest question, because there's a lot of things to choose here. But if I had to pick one, the fact that we're making topical medications matter again. Right. And I think that for years, as somebody who does a lot of inflammatory disease, whether it be psoriasis, hydratinitis, eczema, you name it, there was a huge revolution in systemic therapy, biologic therapy, oral therapy. And largely, we've still been kind of using the same topicals that we've used for so many years. And it's amazing, just even the last couple of years, the investment in new mechanisms of action, the investment in actual vehicles thinking about patient adherence and how much people want to actually use a therapy. And this is amazing because topicals are the mainstay of what we do as dermatologists, and most of our patients are in this mild to moderate spectrum where topical therapy is the right choice for them. So if anything, over the next ten years, I want to double down that investment effort and realize that they still matter. Absolutely. I can envision some topical therapy matters. Shirts and hats. Really appreciate your time. Thank you for taking the time to answer the questions. Thank you very much for having me.

In this episode of Under Your Skin, host Dr Nicholas Brownstone chats with Dr Raj Chovatiya about a tip for improving efficacy in your practice, advice for residents on their first day, and exciting innovations in dermatology.&nbsp;<h5>What’s one change you’ve made in your practice in the last 5 years that had the biggest effect on your efficacy?&nbsp;</h5>Dr Chovatiya remarks that he loves balancing clinical work and research but faces a dilemma of how to combine the 2 while using all hours of his day efficiently.&nbsp;He advises that dermatologists should find a way to make clinic work for them. If there are research questions they’re interested in, they should find a way to relate it to their patients and work those efforts into their clinical time.&nbsp;For Dr Chovatiya, he builds efforts to understand the burden of inflammatory skin disease and issues facing patients with skin of color into each of his encounters, which saves him time and makes him feel as if he is combining 2 things he loves on a day-to-day basis.&nbsp;<h5>If you could go back in time to your first day of residency, what advice would you give yourself? Dr Chovatiya advises residents that they never know which direction their future careers may take, so they should be open to exploring opportunities they may not otherwise think about.&nbsp;</h5>He reflects on aspects of his career he’s been involved with relating to clinical interest, partners in industry, and research work, and notes that he wouldn’t have been able to predict some of the direction his career has taken. He advises that remaining open to serendipitous opportunities can lead to surprising results.&nbsp;<h5>Which innovation in dermatology are you most excited about?&nbsp;</h5>Dr Chovatiya is enthusiastic that topical medications are becoming important again. As someone who does a lot of work with inflammatory disease, including psoriasis, hidradenitis suppurativa, and eczema, he notes that while there have been huge developments in systemic and biologic therapies, dermatologists have still been using the same topicals that have been in use for many years.&nbsp;He comments on promising new investments in the last several years in mechanisms of action, vehicles, and issues relating to patient adherence with topicals.&nbsp;He notes that this is exciting because topical treatments are the mainstay of dermatologists; many patients have conditions in the mild-to-moderate range where topicals are the right choice. He hopes to see that investment in topical therapies continue to grow over the next decade.

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