May 2026 | Vol 21, No. 3
In this Issue:
- Mission Progress: Advancing Research, Building Connections, Creating Hope
- Patient Voices: Ela’s Story of Growing Up With PC
- Research & Studies: Clinical Trial Update, Latest Research News
- Community & Events: Important London Patient Meeting Deadlines, Key Scientific & Medical Conferences, Patient Panel
- Get Involved: Firewalk, Advocates on Capitol Hill, Physician Directory, PC Awareness Month
- With Gratitude: Steady Relief Circle, Experts Who Guide PC Project
Advancing Research, Building Connections, Creating Hope
PC Project continues to make meaningful progress across research, advocacy, patient support, and physician engagement.
In recent months, we have participated in major scientific meetings, strengthened collaborations with researchers and pharmaceutical partners, and expanded awareness efforts for PC and related pEDDs. We are encouraged by the growing scientific attention focused on rare skin diseases, including a new NIH/NIAMS initiative that specifically includes PC.
At the same time, stories like Ela’s (in this newsletter) remind us why this work matters so much. Behind every research project and advocacy effort are real people navigating pain every day. Everything we do is with these people in mind.
Thank you for being part of our PC Project family and helping us move this mission forward.
Janice Schwartz
President & CEO
Finding Her Voice: Ela’s Story of Growing Up With PC
At first glance, Ela Kislal looks like a typical 17-year-old high school senior. She loves plants and considers herself a horticulturist. She paints, writes, plays the flute (by her own admission, imperfectly), and is proud to be the child of immigrants. She’s smart, hardworking, and busy planning her future.
She is also the first person in her family diagnosed with pachyonychia congenita (PC).
Ela was born with a tooth, developed thickened nails and plantar calluses that make walking difficult, and experiences a sharp, persistent ear pain that has shaped much of her childhood. Ear pain can be a feature of PC that is not always talked about. For years, Ela was told that the ear pain might disappear by the time she turned thirteen. Each birthday came with hope — and disappointment. Now 17, she continues to manage a variety of symptoms that most people around her cannot see.
“I didn’t know what life felt like without the pain,” she says. “It felt less like the main part of my life and more like a disadvantage I was reminded of every now and again.”
Continue reading Ela’s inspiring story – one that’s applicable to teenagers and people of all ages.
Orvida Launches Clinical Trial for Olmsted Syndrome: PC Trial Planned for 2027
The Orvida (formerly Kamari Pharma) clinical trial for Olmsted Syndrome (TRPV3-pEDD and PERP-pEDD) has begun and is currently underway in the UK, France, and the US. We extend a big shout-out to our OS registry patients who are making sacrifices to be among the first participants in this study evaluating a new treatment.
If you have OS – a TRPV3/PERP mutation – and are interested in learning more about participating in the trial, please contact us at info@pachyonychia.org.
The PC clinical trial is expected to begin in early 2027 with recruitment starting later this year.
PC Project continues to work closely with Orvida in planning for these trials. We are grateful to those patients who helped in the pilot study in London last June and to those who continue to complete surveys and test wearable devices, contributing valuable real-world data as we work to find the best endpoints for clinical trials.
Groundbreaking Research Opens New Doors for PC Treatment
Erez Cohen, a post-doctoral fellow, was selected to give a presentation, “Keratin 16 spatially inhibits type 1 interferon responses in stressed and diseased skin” on the big stage at the Society for Investigative Dermatology Meeting. This groundbreaking work from Professor Pierre Coulombe’s lab is opening new doors to future therapuetic approaches for PC.
Below are the publication details of this research which just came out in April:
Cohen, E., Xu, Y., Ghodke, S., Orosco, A., Wang, D., Johnson, C. N., Steen, K., Sarkar, M. K., Özlü, N., Tsoi, L. C., Gudjonsson, J. E., Marchal, L., Hovnanian, A., Parent, C. A., & Coulombe, P. A. (2026). Keratin 16 inhibits type I interferon responses in differentiating keratinocytes of stressed and diseased skin. Science translational medicine, 18(844), eadx9123. https://doi.org/10.1126/scitranslmed.adx9123
Thanks to all who donate to PC Project so we can fund this cutting-edge research.
Important News for Our PC Community and Research Partners
We are excited to share that the National Institutes of Health (NIH), through NIAMS (National Institute of Arthritis and Musculoskeletal and Skin Diseases), has released a new highlighted research topic focused on advancing research into the cause and treatment of rare skin diseases—and Pachyonychia Congenita (PC) is specifically listed as one of the diseases of interest.
This means one of the world’s leading medical research agencies is signaling that rare skin diseases like PC and related palmoplantar Epidermal Differentiation Disorders (pEDDs) deserve focused scientific attention. The NIH is encouraging researchers to pursue projects that uncover disease mechanisms, identify biomarkers, build better models for drug screening, explore gene and cell therapies, and even repurpose FDA-approved drugs for rare skin disorders – all things we are pursuing through PC Project’s initiatives.
We are especially grateful to Drs. Peter Koch, Anna Mazzucco, and their colleagues at NIAMS for their continued engagement with the PC Project community, including participation in our research meetings and ongoing dialogue with PC Project’s leadership and our scientific network.
Read more details about the new NIH/NIAMS research priority, including the official announcement.
Honoring Research That Gives Hope to K17-pEDD-PC Patients
Congratulations to Marianne de Brito on being named one of five winners of the Everett C. Fox Award at the American Academy of Dermatology Annual Meeting in March. This award recognizes the most outstanding clinical and laboratory research presentations, and each winner received a $700 grant.
Marianne’s work, “Spatial Transcriptomics Provides New Insights Into the Early Pathogenesis of Steatocystoma Multiplex,” was also one of only 18 presentations selected from more than 100 applicants for a special symposium highlighting groundbreaking research by dermatology residents and fellows.
Marianne’s research focuses on the painful cysts (steatocystomas) experienced by many people with K17 pEDD-PC. While PC Project often highlights the severe foot pain associated with PC, it is just as important that those living with painful, inflamed cysts know they are seen and supported.
Thank you to Marianne, her supervisor Professor Edel O’Toole, and the K17 patients who provided biopsies for this important work. We look forward to sharing the findings with our community once they are published.
IMPORTANT DEADLINES for the 2026 Europe Patient Support Meeting
Early registration discounts and scholarship applications for the London PC Patient Support Meeting are due by June 1, 2026.
Our annual Patient Support Meeting will begin late afternoon on Thursday, September 3 and conclude after lunch on Saturday, September 5. Together, we will learn from presentations and discussions, share experiences, encourage one another, and strengthen the connections that make our PC Project community so powerful. A full children’s program will run concurrently with the adult sessions.
Whether you are newly diagnosed, have known for years you have PC or another painful palmoplantar EDD, or are a loved one, this meeting is a chance to be with people who truly understand.
Meeting details, registration information, hotel information, and the scholarship application link can all be found on our website.
Physicians/scientists, please contact PC Project directly at info@pachyonychia.org if you are interested in coming as our guests.
A Powerful Day of Science, Collaboration, and Hope
PC Project was honored to participate in a successful Epidermal Differentiation Disorders (EDD) Symposium in Chicago on May 12, 2026.
Instead of holding our traditional International PC Consortium Symposium this year, we joined together with the broader EDD community for a full day of outstanding science, collaboration, and discussion representing many rare skin diseases.
It was especially meaningful to see Pachyonychia Congenita (PC), PC Project, and the research we support represented before a wider audience of scientists, clinicians, and pharmaceutical partners.
There is something powerful about bringing people together who represent various skin disorders, especially when looking for what we have in common and how we can help one another. We are all united by shared challenges, shared goals, and the hope (and expectation!) of improving the lives of our patients.
Review the whole program and see a collection of photos from the event: 2026 Epidermal Differentiation Disorders Symposium
Putting Faces to Rare Skin Disease Research
For some researchers who work on rare skin diseases, they have never met an actual patient. That’s why after our EDD Symposium in Chicago, we hosted a researcher networking dinner featuring a panel of EDD patients and family members sharing their lived experiences with a rare skin disorder.
Special thanks to PC Project’s own Jim Rittle and Jeff and Jaime Puro for speaking so openly about what it’s like to live with PC and/or to parent a child with PC. We are incredibly proud of them – and of everyone who participated on the panel.
Their stories brought a deeply human perspective to these disorders in a powerful and moving way. We later heard from many attendees that the panel inspired them to keep pushing forward in their work for our rare skin diseases.
Advancing PC Research at the SID Annual Meeting
PC Project spent time in Chicago at the Society for Investigative Dermatology Annual Meeting, which brings together thousands of skin researchers from around the world. Alongside numerous meetings with researchers and pharmaceutical companies, our exhibit table saw nearly nonstop activity. We also attended key sessions featuring talks relevant to PC and other pEDD research. It was a full and productive week, and we took advantage of every opportunity for networking and collaboration.
PC and PC Project Represented at the AAD
At the 2026 American Academy of Dermatology Annual Meeting in Denver, our CEO, Janice Schwartz, was honored to be invited to present on behalf of the patients and families we serve.
Joined by PC Project’s Medical & Scientific Advisory Board members Joyce Teng, Antoni Gostynski, and Amy Paller, along with Juliette Mazereeuw-Hautier, Cheryl Bayart, Xingyuan Jiang, and Denise Gass, Janice spoke in a session dedicated to Epidermal Differentiation Disorders that included presentations focused on PC and related palmoplantar Epidermal Differentiation Disorders (pEDDs), followed by a Q&A panel.
PC Project, with the help of Janice’s husband, David, was also pleased to participate in the broader conference – building new connections, attending key sessions, inviting experts to join our international consortium, and distributing hundreds of brochures to help educate dermatologists and pharmaceutical representatives about our diseases and our work.
We attend conferences like the AAD because of YOU. Every session, every conversation, and every new connection is carried out with our community in mind, bringing us closer to better understanding, better care, and better treatments.
Walking on Hot Coals to Raise Funds for PC Research
On Saturday, April 18, Julie Peconi and Tom Baker hosted their 3rd Firewalk to raise funds for PC research – a fitting activity to benefit those who feel burning pain every day.
Julie wrote, “Like previous years, the event drew a lot of spectators and was both really uplifting and a lot of fun! Even better, thanks to the combined efforts of volunteers, participants, and local supporters, the event raised over £6,000 to support PC Project!
A total of 37 people took on the Firewalk challenge, with around 150 spectators attending to show their support. The Swansea Aber Taiko drum band opened the event with a powerful performance, and the atmosphere throughout the evening was helped along by a local volunteer DJ, a well‑supported raffle, and plenty of food. The sense of community support was clear throughout the planning and on the day itself.”
Read more details about this exciting event including the multiple firewalkers who created their own fundraising pages to increase visibility and donations.
Julie also wrote, “It’s always scary putting yourself out there, especially with such a hidden condition like PC, but the support we received was incredible. We are extremely grateful to everyone who contributed – whether by walking, volunteering, donating, or cheering us on from afar! I’d be happy to help anyone who wanted to organise a similar event in the future. Please don’t hesitate to reach out to me through PC Project!”
PC Advocates on Capitol Hill
Many thanks to our three incredible PC advocates – Jolena Miller, Rylee Defebaugh, and Harlon Pickett – who represented PC and PC Project with the Coalition of Skin Diseases on Capitol Hill, May 18-19, 2026, speaking up for everyone living with PC and related painful palmoplantar Epidermal Differentiation Disorders (pEDDs).
We are so proud of them! Washington, DC – and Capitol Hill especially – is not an easy place to get around for people whose feet hurt with every step, yet all three PCers were willing to walk the halls of Congress and meet with representatives on behalf of our community.
Their advocacy priorities included robust fiscal year 2027 funding for the NIH and NIAMS to accelerate research breakthroughs as well as encouraging congressional representatives to join the Congressional Skin Caucus and champion policies that improve the lives of patients.
Thank you to everyone in our PC Project family who helps educate others about our rare skin disease needs and works to create real change. Every voice and every action – no matter how small it may seem – helps move us forward together.
Physicians: Help Us Build a Global PC/pEDD Provider Network
With patients in over 60 countries, PC Project is creating a Medical Provider Directory to connect patients worldwide with local heathcare professionals who have some experience with PC and related painful palmoplantar Epidermal Differentiation Disorders (pEDDs).
If you are a medical provider, please complete our short Medical Directory Information Form which will provide PC/pEDD patients with the necessary information to make an appointment with you.
If you are a PC/pEDD patient with a dermatologist, podiatrist, or other type of clinician who tries to understand your condition, please recommend your doctor here.
PC Awareness Month is Coming!
Watch your inbox and our social media platforms in the next week for the launch of our PC Awareness Month Campaign – all about making PC more visible! Next month, our community will come together to help make PC more visible through storytelling, advocacy, and awareness across social media and beyond. We hope you’ll join us.
Monthly Gifts, Lasting Impact
Running an international charity focused on research, patient diagnostics, and support takes ongoing resources, and every month we are sincerely grateful for the faithful support of our Steady Relief Circle members. Some give $10 a month, some give more – but every single sustaining gift matters. Together, these steady monthly donations fund new science and create lasting change for PC/pEDD families around the world.
Thank you to all who joined our Circle in the April campaign and for all who are supporting us month after month. We truly could not do this work without you!
Experts Who Ensure PC Project is Driven by Love AND Guided by Science
Our deepest thanks to the incredible members of PC Project’s Medical and Scientific Advisory Board. While we at PC Project are not scientists or dermatologists ourselves, we are blessed to be surrounded by experts who generously share not only their knowledge and guidance, but also their hearts. Their dedication helps guide and shape our medical and research priorities and actions and ensures that everything we do is centered on ending the pain of our patients.
Some of our expert advisors are pictured above at a recent in-person meeting. A full list can be found on our website.
Recently, we told one of our scientific advisors, “We may take advantage of you, but we never take you for granted!” That truly reflects how we feel about this extraordinary group. They give countless hours of their time and expertise simply because they care deeply about our community and genuinely love our patients. Their commitment, compassion, and belief in our mission mean more to us than words can express.
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