PC Newsletter
Vol 20, No. 4
July 2025
In this newsletter, we invite you to explore the following announcements and activities:
- PC Project sponsored Research Session at ESDR
- NIAMS/NCATS Meeting
- Pilot Study for PC & TRPV3
- Now Accepting Grant Applications
- New Disease Classification by Gene Names
- PC Research Update – Diana Blaydon, PhD
- Camp Discovery in California for Families
- Professor Christine Bodemer Joins the PC MSAB
- New Children’s Book features PC Story
- Get Ready for Peer-to-Peer Fundraising
- Recent Publications
Everything we do is focused on helping patients and their families who turn to us for answers, support, and hope. Together, we are working to find meaningful, lasting solutions for rare genetic skin conditions. To everyone who supports our mission in any way, including those who give anonymously, THANK YOU!
Landmark PC Project Session at ESDR
We’re proud to announce the first-ever PC Project–sponsored research session at the European Society for Dermatological Research (ESDR) Meeting, a prestigious conference dedicated to skin research, taking place September 10–13, 2025, in Antwerp, Belgium.
This milestone session, Pachyonychia Congenita: A Paradigm for Patient-Driven Research from Pathogenesis to Treatment, will showcase how cutting-edge PC research is shaping the future of treatments for rare genetic skin disorders. We will also invite attending scientists to explore ways to incorporate PC research in their own labs.
Researchers and physicians attending ESDR, join us on Saturday, September 13, from 10:00 to 11:00 AM for our landmark session exploring how multi-omics analyses are driving targeted therapies in skin disease – all powered by the efforts of PC Project.
See PC Project’s program details.
Register for the ESDR meeting.
NIH NIAMS/NCATS Directors Meeting with PC Project
On July 23, 2025, PC Project – represented by Pierre Coulombe and Janice Schwartz – met with 14 directors from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Center for Advancing Translational Sciences (NCATS) at the NIH. The meeting focused on opportunities for collaboration and advancing research into palmoplantar epidermal differentiation disorders, including Pachyonychia Congenita (PC).
We were deeply encouraged by the directors’ genuine concern for patients living with chronic, debilitating pain, and their openness to exploring solutions in partnership with us.
The meeting exceeded our expectations, and we are grateful to be part of an ongoing dialogue with NIH leadership. We look forward to continued collaboration as we work together to improve the lives of those affected by rare genetic skin disorders.
Learn more about the meeting here.
UK Registry Patients Support Clinical Trial Development
Patients from the UK registry gathered in London on June 20–22, 2025, to help develop clinical assessments for an upcoming trial sponsored by Kamari Pharma, which is advancing a new drug for PC, TRPV3 and other related conditions.
Professor Edel O’Toole served as the on-site Principal Investigator, supported by Dr. Marianne de Brito, Dr. Majeeda Patel, and Tosin Ogundero. A special thank-you goes to PC Project volunteer, Teresa Burrell, for her incredible support throughout the event. We’re also deeply grateful to the dedicated PC and TRPV3 patients who generously gave their time and efforts to be part of this important work.
Stay tuned for more information on this trial!
Since we were all together, we couldn’t resist holding a mini-patient support meeting – complete with presentations, group discussions, and plenty of shared connection. For some, it was the first time meeting others who truly understand what it’s like to live with a rare, painful condition. As always, it was emotional, uplifting, and inspiring. Our patients and their loved ones are truly the best people. They long to live pain-free but are living life brilliantly in the meantime.
Learn more and see photos of the event here.
Physicians: If you treat patients with Olmsted Syndrome/TRPV3, please refer them to our registry so they can join our community and stay informed about the trial.
Now Accepting Research Grant Applications
PC Project is seeking to fund transformative research projects for pachyonychia and other rare genetic skin diseases characterized by painful palmoplantar keratoderma.
If you have a compelling idea, consider applying for a PC Project grant:
July 15, 2025 – Application Period Opens
October 15, 2025 – Application Deadline
December 15, 2025 – Awards Announced
Diseases like PC reclassified to Be Called by Their Gene Name
For years, PC Project has identified the diseases in our registry by the gene names where the disease-causing variants are located (K6a, K6b, K6c, K9, K16, K17, TRPV3, AAGAB, GJB2, GJB6, TAT, DSG1, DSP, RHBDF2, etc.).
Now, in a pivotal reclassification project, all genetic skin disorders that have palmoplantar keratoderma (thick skin on the palms or feet), including PC, are being called by the gene where the disease-causing mutation is located. They are now classified into a group called Palmoplantar Epidermal Differentiation Disorders (pEDDs), part of a larger group of EDDs.
Learn more about the new pEDD reclassification and why it matters to us.
PC Research Update – Understanding PPK: Why Palm and Sole Skin Needs Its Own Science
PC Project awarded Dr. Diana Blaydon of Queen Mary University of London a grant to make in vitro models for studying palmoplantar skin in PC. Below is a lay summary on her lab’s progress:
Palmoplantar keratodermas (PPKs) are rare inherited conditions of the skin that specifically affect palm and sole (palmoplantar) skin on your hands and feet. The skin becomes thickened and is often painful, particularly when walking, as in Pachyonychia Congenita (PC).
Palm and sole skin is quite different to the skin on the rest of the human body. However, most scientific research is conducted on body skin, including skin cells that are grown in the lab, and we have less understanding of how the specialized palmoplantar skin works and what goes wrong in PPK. With our research we are trying to bridge this gap in our knowledge by, firstly, generating human derived palm and sole cells to mimic either normal or PPK palmoplantar skin and, secondly, generating novel mouse models of PPK to understand how the skin condition develops and towards identifying /testing new therapies to alleviate the skin thickening and the pain.
Continue reading to discover what they’ve found so far...!
Camp Discovery for Families in California – Deadline July 30!
For PC or PPK families, we invite you to check out Camp Discovery, a free family camp to be held this September 19-21, 2025, at the Ronald McDonald Camp for Good Times at Mountain Center, California.
This camp is for families with children who have a skin diseases like PC and all costs are covered. The deadline to register is July 30th so apply soon!
This is not a PC Project sponsored event, but it’s hosted through the American Academy of Dermatology and has an excellent reputation.
Welcome Christine Bodemer to the MSAB
PC Project is honored to welcome Professor Christine Bodemer, MD, PhD, as the newest member of PC Project’s Medical and Scientific Advisory Board.
Prof. Bodemer is a world-renowned leader in dermatology, with a distinguished career dedicated to pediatric dermatology and rare genetic skin diseases. Since 2011, she has served as Head of the Department of Dermatology at Necker Enfants-Malades Hospital in Paris, France, and has been a Professor of Dermatology at Paris Descartes–Sorbonne University since 2001.
She built and coordinated a national expert center for genodermatoses (MAGEC, since 2005), the French national network (FIMARAD, since 2012), and the European Reference Network for rare skin diseases (ERN-SKIN, since 2017). Her leadership has been instrumental in advancing collaborative care models and translational research.
Prof. Bodemer has authored over 450 scientific publications, developed several patents for innovative therapies, and received multiple international honors, including the International League of Dermatology Societies Award and the ESPD Master Award. She also organized and led the successful 2022 and 2024 World Congress for Rare Skin Diseases and is planning a future congress in 2026.
Prof. Bodemer’s wealth of experience, passion for rare diseases, and commitment to collaboration will be invaluable to PC Project’s mission to improve the lives of those affected by PC. We are thrilled to have her expertise and vision guiding our efforts!
New Children’s Book Featuring a PC Story
We’re proud to see our PC community represented in Different Like Us!, a new book celebrating over 40 children from around the world, including one beloved member of the PC Project community.
Different Like Us! explores how children and teens who feel out of step with their classmates discover their paths to inner strength and create the lives they want to lead. This book, published on July 21st, 2025, features one of our very own, Coraline, who deals with the pain of PC.
The author of the book, Margaret Rook, told PC Project, “I am thrilled to say the first chapter, ‘Never Giving Up’, tells the story of a wonderful girl with PC. Cora, who’s 10, from the USA, talks about her life, the difficulties she goes through with PC and everything that helps her. She speaks so eloquently as she shines a light on PC, making sure more people understand the condition, and understand the fantastic work of PC Project.”
Learn more about this book.
Get Ready to Join the Fight to End the Pain
Coming soon! At the end of August, we’ll be launching our first-ever official peer-to-peer fundraising campaign to raise critical funds for PC research – and we want you to be part of it!
What’s peer-to-peer fundraising? It’s a powerful way for individuals to support a cause they care about by creating their own fundraising pages and sharing them with friends, family, and social networks. In other words, you become the fundraiser – and your personal story and outreach can help bring new people into the PC community.
Because PC is rare, growing awareness and support through our extended networks is key. The more people who know about PC Project and our life-changing work, the closer we get to treatments – and someday, a cure.
Everyone will be able to quickly and easily customize their own page to share. Don’t worry—we know you’re busy, so we’re designing the campaign to be as simple and stress-free as possible.
Watch your inbox and follow us on social media over the next few weeks – we’ll be sharing everything you need to get started. Let’s #StepUpForPC together!
Recent Publications of Relevance to PC and PPKs
Below is a small selection of recent publications, that are relevant to PC and other PPKs in our registry. Visit our Published Research Articles page to search for more publications about PC. If you have a publication or know of one that we should be aware of, please email us at info@pachyonychia.org.
- Wittmer AN, Nguyen CM, O’Toole E, Schwartz J, Evans H, Hansen D. Non-pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry. Int J Dermatol. 2025;64(7):1285-1287.
- van Veen FCAP, Sprecher E, Schwartz J, et al. The Importance of Shared Patient Voices in Advancing Science for Genodermatoses on a Global Scale. J Invest Dermatol. Published online July 1, 2025.
- Coulombe PA, Hansen D, Hickerson R, et al. Celebrating 20 Years of the International Pachyonychia Congenita Consortium. J Invest Dermatol. 2025;145(4):725-727.
- Oldham J, Stuart BL, McCarthy RL, et al. Evaluation of the Foot Function Index in pachyonychia congenita. Br J Dermatol. 2025;192(5):947-948.
- Schwartz JN, Evans HA, O’Toole EA, Hansen CD. Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration. Keio J Med. 2025;74(1):61-66.
- McCarthy RL, de Brito M, O’Toole E. Pachyonychia Congenita: Clinical Features and Future Treatments. Keio J Med. 2025;74(1):52-60.
- Sprecher E, Ishida-Yamamoto A, Schwartz J, et al. Palmoplantar epidermal differentiation disorders: a new classification towards pathogenesis-based therapy. Br J Dermatol. Published online March 19, 2025.
- Hernández-Martín Á, Paller AS, Sprecher E, et al. A Proposal for a New Pathogenesis-guided Classification for Inherited Epidermal Differentiation Disorders. Br J Dermatol. Published online March 28, 2025.
- Paller AS, Teng J, Mazereeuw-Hautier J, et al. Syndromic epidermal differentiation disorders: New classification towards pathogenesis-based therapy. Br J Dermatol. Published online April 4, 2025.
- Akiyama M, Choate K, Hernandez-Martin A, et al. Nonsyndromic epidermal differentiation disorders: New classification and nomenclature based on disease-associated genes leading to targeted therapy. Br J Dermatol. Published online May 1, 2025.
- McCarthy RL, de Brito M, O’Toole EA. Pachyonychia congenita: pathogenesis of pain and approaches to treatment. Clin Exp Dermatol. 2024;49(12):1510-1517.
- Curtis KL, Schwartz J, Evans H, Lipner SR. Pachyonychia congenita: Spectrum of cutaneous disease. J Am Acad Dermatol. 2024;91(5):1021-1025.
- Andersen SR, Herlin LK, Schmidt SAJ, Sommerlund M. Prevalence and Patient Characteristics of Pachyonychia Congenita. JAMA Dermatol. 2024;160(12):1364-1366.
- McCarthy RL, Schwartz J, Oldham J, et al. A cross-sectional study of erythromelalgia in patients with pachyonychia congenita. Br J Dermatol. 2024;191(2):300-302.
- Weinberg RL, Kim S, Pang Z, et al. Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma. J Neurosci. 2024;44(28):e0260232024. Published 2024 Jul 10.
Published articles that are a result of our work at PC Project, particularly our International PC Consortium of scientists and physicians and our International PC Research Registry, are a testament to the power of our collaborative and committed community. That includes you!
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