PC Project Newsletter
Vol 21, No. 1
Jan 2026
In this Issue:
- State of the Organization: A Year of Momentum & What’s Ahead
- Patient Voices: Niam’s Essay & James Poem
- Research & Studies: Clinical Trial Update, Grants, Publications, PC Registry
- Community & Events: EDD Scientific Symposium & London Patient Meeting
- Getting Involved: Need Care Videos & Other ways to get involved
- With Gratitude: 2025 Gratitude Wall
PC Project: State of the Organization
By Jack Padovano & Janice Schwartz
With the start of a new year, we reflect on the progress we’ve made together and share where we’re headed next.
Whether you live with PC or another PPK, are a family member, researcher, clinician, or one of our dedicated supporters, you are the heart of PC Project. Everything we do is guided by our mission: to support every person affected by these conditions, advance research toward meaningful treatments, and build a global community grounded in hope and understanding.
A Year of Momentum and Progress
This past year has been one of the most productive and forward-moving in PC Project’s history.
Expanding Global Outreach
PC Project represented the community at eight major scientific and medical conferences worldwide—raising awareness, strengthening collaborations, and helping clinicians better recognize and care for patients with PC and other PPKs.
Strengthening the Patient Registry
Our Patient Registry—the foundation of all PC/PPK research—surpassed 3,000 patients this past year. Every new registration strengthens the data that drives research and moves us closer to effective therapies.
Preparing for Clinical Trials
We devoted significant time to preparing for a clinical trial anticipated to begin this year. For rare diseases, reaching this stage is a milestone made possible by patient participation and sustained donor support.
A Record-Breaking Fundraising Effort
Last fall’s first peer-to-peer campaign became the largest in PC Project’s history, more than doubling its impact through matching support. Just as important, patients courageously shared their stories, helping others better understand life with PC/PPK.
Niam
An essay where Niam shares what it means to live, compete, and push forward while living with PC.
As I stood barefoot on the pool deck, waiting for my heat to be called, I curled my toes inward, hoping no one would notice the thick calluses I could not hide. Before I even dove into the chilly water, I was already racing — not against the swimmers beside me, but against the quiet embarrassment of living with PC.
PC, or Pachyonychia Congenita, is a rare genetic skin condition that makes simple tasks, like walking barefoot or standing, painful.
James
In his poem, James reveals the unseen reality—and quiet resilience—of living with PC
THE BODY I WAKE UP IN
I wake in a body that screams
before my eyes even open—
a body that has never once let me forget that breath is a negotiation and movement is a battle I never volunteered to fight.
Pain is the first voice I hear,
a knife-edged whisper
turning into a roar,
stretching down bones that feel carved from fire, muscles pulling like rusted chains, nerves sparking like live wires dragged under my skin.
Clinical Trial Update
PC Project and key clinical experts are working with Kamari Pharma to launch a Phase Ib/Phase II clinical trial for PC and Olmsted Syndrome (TRPV3-pEDD) later this year. Kamari has developed a novel oral therapy that has already completed a successful Phase Ia safety study in healthy volunteers.
Because PC and Olmsted Syndrome share key molecular pathways, a treatment for one may benefit both. The trial will begin in Europe and expand to the U.S. later this year.
Physicians: If you have patients with suspected PC, OS/TRPV3, or other painful pEDDs who are not yet in our registry, please encourage them to enroll or refer them to PC Project.
Research Awards and Impact
Thanks to our donors, PC Project awarded $385,000 in research grants in 2025 and supported the ongoing costs of our Patient/Research Registry. These investments directly accelerate scientific discovery and treatment development.
Publication Highlights
Below are some of the recent publications relevant to PC and other palmoplantar Epidermal Differentiation Disorders (pEDDs) in our registry:
- Singh S, Kumar A, Dalave K, Mishra N. Early-onset Pachyonychia Congenita with Oral and Cutaneous Manifestations. Ann Afr Med. 2026;25(1):218-220.
- Yeom, J., Lee, S., Ko, Y. H., Hong, E., Kim, J. H., Coulombe, P. A., & Lee, C. H. (2025). Structure and function of the keratin 17 tail domain associated with keratin intermediate filament organization. European journal of cell biology, 104(4), 151519.
- Steiner, S. N., Horst, E., Athaiya, M., Johnson, C. N., Shen, J. Y., Kerns, M. L., Mehta, G., Iglesias-Bartolome, R., & Coulombe, P. A. (2025). Under Pressure: A unique mechanoresponsive mechanism of body site-specific keratin regulation in palmoplantar epidermis. bioRxiv : the preprint server for biology, 2025.09.15.676359.
- Yavas C, Nekay E, Abuaisha A, et al. A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome (GJB2) in a Turkish patient, in silico analysis and literature review. Mol Biol Rep. 2025;53(1):129. Published 2025 Nov 27.
- Brandt E, Heliö K, Harjama L, et al. Desmoplakin-associated palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy. Clin Exp Dermatol. Published online October 18, 2025.
- Itamoto S, Tu WT, Chang CY, et al. Oral Statin Therapy in KRT16- and KRT17-Associated Palmoplantar Epidermal Differentiation Disorder (Pachyonychia Congenita). J Dermatol. 2025;52(10):1608-1611.
- Su Y, Sun Y. AAGAB-palmoplantar epidermal differentiation disorder. Br J Dermatol. 2026;194(1):180.
- Sparling K, Bourgeois J, Swick B, Harview C. Steatocystomas: Update on Clinical Manifestations, Diagnosis, and Management. Cutis. 2025;116(4):138-142.
- Youness Z, Hallal M, Makhoul R. A Newly Documented Rare Case of Pachyonychia Congenita II in a Three-Month-Old Baby. Case Rep Dermatol Med. 2025;2025:8876939. Published 2025 Jul 12.
International Pachyonychia Congenita Research Registry
Did you know?
27 different palmoplantar epidermal differentiation disorders (pEDDs) are represented in the International PC Project Research Registry.
PC Project supports people with PC and other palmoplantar keratodermas (PPK)—together known as pEDDs—by helping them get a genetic diagnosis and by collecting critical data on each condition.
Why this matters:
Collecting data across 27 palmoplantar epidermal differentiation disorders creates momentum that no single rare disease could achieve alone.
For patients, shared data means their experiences help drive research and treatment development—ensuring patient voices shape what comes next.
For clinicians, the registry reveals common pathways, overlapping symptoms, and treatment responses across related conditions, supporting better-informed care.
For industry, well-characterized patient data lowers the risk of drug development by clarifying disease biology, prevalence, and clinical trial feasibility—making investment in rare skin diseases possible.
By bringing together both the data and the people behind it, PC Project is accelerating collaboration and progress for everyone affected by PC and other pEDDs.
Explore our interactive tables on the Patient Registry Data page and the Non-PC Palmoplantar Keratodermas page.
EDD Symposium
To our scientists and physicians:
Register now for the all-day Epidermal Differentiation Disorders Symposium on May 12, 2026, held in conjunction with the Society for Investigative Dermatology Meeting in Chicago, IL.
Plan to arrive a day early to take part in this exciting meeting, which will replace our annual IPCC Research Symposium. This symposium brings together multiple rare skin disease communities to focus on what we have in common—and how collaboration can move us all forward.
Researchers, clinicians, industry partners, and NIH representatives will come together to exchange new insights, share cutting-edge research, and accelerate progress for individuals living with these painful and often debilitating rare skin disorders.
Program details and registration, including industry sponsorship opportunities, are available here at 2026 Epidermal Differentiation Disorders Symposium
2026 Patient Support Meeting
Save the date! We are pleased to announce that the 2026 PC/PPK (pEDDs) Patient Support Meeting will be held September 3-5 in London, England. Watch the website for registration details coming soon.
We Need Your Skin-Care & Trimming Videos
Patients are the true experts. Short, practical videos showing how you care for PC/PPK skin can be incredibly helpful—especially for parents of newly diagnosed children.
Videos don’t need to be long or perfect. Real, lived experience makes the biggest impact.
We need the following types of videos:
- Trimming fingernails, toenails, or calluses — for yourself or your child
- Caring for other areas of skin, including cysts
- Treating an inflamed or infected nail in a baby or young child, including the safe technique you use to release fluid or pus
- Caring for a blister, including how you safely release the fluid
- Any other daily skin-care routine you use to manage PC/PPK
Please film up close, but make sure you’re in focus, and if you’d like, talk while you film to share insights into your methods.
Please click to upload your videos
Other ways to get involved:
- Join the Patient Registry
- Become a monthly partner – join the Steady Relief Circle
- Include PC Project in your estate planning
Our 2025 Gratitude Wall
To everyone who supported PC Project in 2025: thank you. Your generosity fuels research, supports families, and moves us closer to real treatments.
Behind every grant funded, every patient supported, and every milestone reached is a community that believes this work matters. We are deeply grateful.
If you’d like to continue supporting this mission, please consider joining our Steady Relief Circle with a monthly gift.
Connect with us on social media
