March 2026 | Vol 21, No. 2
In this Issue:
- Mission Progress: Behind the Scenes
- Patient Voices: Eunice & Aurora
- Research & Studies: Footwear Survey, Publications, Patient Registry
- Community & Events: EDD Symposium, London Patient Meeting
- Get Involved: Fundraisers, Represent PC Project on the Hill
- With Gratitude: Remembering Cherished People
Because of You: Progress Behind the Scenes
Every time we begin putting together a newsletter, I think we’ll only have a few updates to share – but I’m always reminded just how much is happening behind the scenes. From connecting with researchers and advancing new ideas to supporting patients and families around the world, the impact of PC Project continues to grow – thanks to you.
Recently, I’ve been especially encouraged by two separate conversations with members of the research community. One researcher/physician shared that he admires PC Project for our strong focus on advancing research while still caring for patients. Another expressed that while our work is clearly driven by heart, what stands out to him is the strength and credibility of our efforts from a scientific perspective. Hearing this from two respected scientists in just the past few weeks was a meaningful reminder that the broader dermatology and research community recognizes the impact of our work – progress that is only possible because of you.
In this month’s newsletter, you’ll find many ways to get involved. I invite you to choose what feels most meaningful to you and take part. Even small actions, when combined, make a profound difference for a rare disease community like ours.
– Janice Schwartz, Executive Director
Eunice
“PC Project has given us a community so we don’t feel alone.”
Most of my life, my PC determined what I could do. I wasn’t able to play any sports, had ongoing bealing (infected) fingers and toes. I was bullied in school until grade five, when we moved to a school where the other kids refused to allow bullying.
As an adult, I had difficulty with my feet every day until I got an amazing foot specialist who fitted me with orthotics. It was the first time I could walk without pain.
Aurora
A história da minha pequena guerreira Aurora.
Desde o dia em que ela nasceu, eu soube que minha filha era diferente, não no sentido de menos, mas de única.
Ela veio ao mundo com as unhas amarelas, e os médicos acreditaram que fosse icterícia. Mas o coração de mãe sente o que os olhos não veem.
Com o tempo, as unhas começaram a engrossar, pequenas feridas surgiram, e dentro de mim crescia a certeza de que havia algo além.
Read more in Portuguese & English
Every Story Matters
So many of you inspire us every day, and yet we know how hard it can be to “share your story,” especially when you don’t know where to begin.
Living with pachyonychia congenita (PC) or another palmoplantar keratoderma (PPK) is complex. It’s daily life, pain, resilience, family, hope, frustration, and strength, often all at once. And while we regularly ask our community to share their experiences, we realize that a blank page can feel overwhelming.
We want to do better.
If you’re open to it, we invite you to share any part of your story — a few sentences, a paragraph, or more. There’s no right length, no right tone, and no pressure to answer everything. Share what feels true and meaningful to you.
If it helps, here are a few prompts to get you started.
Patients with PC/PPK: Please Take a Survey to Help with Clinical Trial Measures
Because of the variability of PC/PPK symptoms, particularly pain, identifying effective functional measures for use in studies and clinical trials has been challenging.
Please help us better understand how footwear (shoes, slippers, etc.) affects your daily comfort and mobility, and the feasibility of using sensor insoles for measurements by completing a PC Footwear and Feasibility Survey.
Your responses will be used to help prepare us for an upcoming clinical trial!
Publication Highlights
Below are selected recent publications relevant to PC and other palmoplantar Epidermal Differentiation Disorders (pEDDs) represented in our registry, reflecting the important work being done in our disease space:
- Ceccacci S, Roger K, Marchal L, et al. Proteomics reveals altered lipid biosynthesis and keratin hyperphosphorylation in pachyonychia congenita. J Invest Dermatol. Published online January 23, 2026.
- Ren Y, Niu W, Cao Y, Zhang Y, Hua J, Wang H. KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling. Am J Med Genet A. Published online February 26, 2026.
- Su Y, Su S, Li M, et al. Functional roles of Keratin 6A in disease pathogenesis across cancer and skin disorders. Exp Biol Med (Maywood). 2026;251:10845. Published 2026 Jan 21.
- Redmond CJ, Steiner SN, Cohen E, Johnson CN, Özlü N, Coulombe PA. Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis. J Cell Biol. 2026;225(3)
- Morris JA, Gonzalez T, Blanton SH, Angeli SI, Liu XZ. GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies. Int J Mol Sci. 2026;27(1):491. Published 2026 Jan 3.
- Cadiravane S, Ananthakrishnan V, Sethumadhavan S, et al. Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype. J Assoc Physicians India. 2026;74(3):37-38.
- Rossel VSVJ, van der Velden JJAJ, Janssen R, et al. Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma. J Dermatol Sci. Published online January 31, 2026.
Every Patient Counts: Join the Research Registry
The International Pachyonychia Congenita Research Registry (IPCRR) continues to be one of the most important tools for advancing research and improving care for people living with PC and other painful genetic palmoplantar Epidermal Differentiation Disorders (pEDDs). The information shared by patients and families helps researchers better understand symptoms, treatment approaches, and priorities for future therapies.
If you or a family member have PC or another painful genetic pEDD and are not yet enrolled, even if you already know your affected gene, we encourage you to join the registry.
Clinicians who care for patients with these conditions are also welcome to refer patients to participate.
You can also explore insights from the registry data or learn more about other conditions with painful palmoplantar Epidermal Differentiation Disorders in our registry.
Your participation helps move research forward and brings us closer to better treatments for everyone affected by these painful conditions.
Help us create a PC/PPK Medical Provider Directory
PC Project is creating a Medical Provider Directory to connect patients worldwide with heathcare professionals experienced in PC and related painful palmoplantar Epidermal Differentiation Disorders (pEDDs).
Access to knowledgeable doctors can make a meaningful difference for people living with rare diseases like ours. With patients in over 60 countries, we are frequently asked for physician referrals. This directory will help fill that gap.
If you are a medical provider and would like to be included on our list, please complete our short Provider Directory Information Form.
If you are a PC/PPK patient, please recommend your doctor here.
2026 Epidermal Differentiation Disorders Symposium
For 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.
Many thanks to our symposium sponsors: Palvella Therapeutics, Kamari Pharma, Beiersdorf, BioCryst, and Krystal Bio.
Program details and registration are here 2026 Epidermal Differentiation Disorders Symposium
2026 Europe Patient Support Meeting
We invite all patients, families, clinicians, and researchers to join us for the 2026 PC/PPK (pEDDs) Patient Support Meeting (PSM), to be held September 3-5 in London, England.
This special gathering is life-changing and brings the PC community together with leading experts to share updates on research, treatments, and practical management of PC, while also creating space for patients and families to connect and learn from one another.
PSM meetings are a rare opportunity for patients, doctors, and scientists to learn from one another and to strengthen our community.
Learn more and view meeting details
Firewalk Fundraiser in Wales
Members of our PC community are going to extraordinary lengths to support PC research. On April 18, Julie Peconi and the Baker family have organized and will take part in a Firewalk for PC in Swansea, Wales, raising funds for PC Project Europe.
Julie’s husband and son both live with PC, a rare and painful skin condition that makes walking difficult. After a challenging year with a lot of PC pain, their family wanted to give back to the community that has supported them.
Learn more about this exciting event.
Represent PC Project on Capitol Hill
We are seeking two members of the PC Project community to join the Coalition of Skin Diseases for its annual Hill Day in Washington, DC, May 17–19, 2026.
This unique, in-person opportunity includes advocacy training and meetings with congressional offices to help raise awareness and advance policy for rare skin diseases. The Coalition of Skin Diseases will cover travel expenses for two selected participants.
Applications close Monday, March 30, 2026.
Learn more and apply today to help ensure the PC community is represented on Capitol Hill.
Swing Fore PC Golf Fundraiser in Ontario, Canada
Are you in the Ontario, Canada area? Consider joining James, a parent of young PCer, in supporting the PC Project community while enjoying a day on the course! The Swing Fore PC Golf Fundraiser will take place June 20, 2026 at Dunsford Golf and Country Club, featuring 9 holes of golf, dinner, prizes, and fun. Teams of four are welcome, and sponsorship opportunities are available for businesses and supporters.
Learn more about this fun day for a great cause.
Maastricht Scientists and Doctors to Run for Research
Dr. Antoni Gostyński, a member of our PC Project Medical & Scientific Advisory Board who regularly joins our monthly genetics team meetings, is participating with his colleagues in a 10 km run on April 26 in Maastricht to raise funds for research supporting children with genodermatoses (genetic skin diseases).
Antoni and his team of doctors and scientists hope to raise €10,000 through the race to support research benefiting children living with rare dermatological conditions. While they say they are not avid runners and that completing 10 kilometers will be a significant physical challenge, that effort is temporary—unlike the lifelong conditions these children face.
While this fundraiser does not directly support PC Project, we are pleased to share and support Antoni’s efforts to advance research for rare skin diseases.
Learn more or donate or read Antoni’s English LinkedIn post
Thank you to the patients, families, donors, clinicians, scientists, and partners who stand with the PC Project community. Your support makes it possible to provide diagnoses at no cost, support patients worldwide, and fund research for better treatments and a cure.
This month, we offer a special tribute to cherished members of our community who have passed away. In a community as close-knit as ours, every individual matters deeply, and we are truly touched when PC Project is remembered during such tender times.
In Memory of a Dear Uncle: Jan Smalbrugge Funeral Donation
Sadly, my dear uncle passed away on Wednesday, March 4th. I have always had a wonderful bond with my Uncle Jan and Aunt Bregtje (shown in the photo). Because they were always very interested in my condition, my uncle and aunt decided, during my uncle’s illness, to ask for a donation for Pachyonychia Congenita during the funeral. Although it is an unknown condition to many, everyone donated very generously, and an amount of €848,00 was raised. This shows how loved my uncle was and how much my Aunt Bregtje still is. We can look back on a beautiful funeral, and I sincerely hope that my dear aunt can pick up the pieces again, despite the great loss caused by the passing of Uncle Jan.
-Ian van der Laan, PCer, The Netherlands
Remembering Our Board Attorney, Leader, and Friend
The PC Project community is deeply saddened by the passing of Robert Paul Lindfors — Bob to so many of us — a devoted Board member, trusted leader, Board attorney, and friend.
Bob served the PC Project with tireless dedication. As a member of the Board and our Board attorney, he brought steady judgment, thoughtful legal insight, and a deep commitment to our mission. He believed strongly in the power of research, the strength of community, and the importance of continuing to show up for families affected by pachyonychia congenita.
What made Bob especially remarkable wasn’t just the time he gave, but the spirit in which he gave it. He was always willing to help — whether serving as Board Secretary and preparing for meetings, advising on important legal matters, weighing in on complex decisions, supporting fundraising efforts, or simply being there when encouragement was needed. He approached every task with a warm smile and a calm, reassuring presence. Much of his leadership happened quietly, behind the scenes, without any need for recognition.
Janice, our PC Project president, recently shared a story that captures Bob’s heart perfectly. During a long lunch conversation with a young adult woman living with PC, Bob took the time to truly listen. He asked thoughtful questions, offered reassurance, and made her feel heard and understood. By the end of their conversation, this young woman felt more comfortable and less alone in her journey. That was Bob — steady, kind, and genuinely present with people when it mattered most.
For Bob’s Celebration of Life, his family kindly requested that, in lieu of flowers, donations be made to PC Project. We are deeply grateful to all who chose to honor Bob’s memory in this way. Your generosity reflects the spirit of service Bob embodied and helps ensure that the work he cared about so deeply continues.
Bob understood that rare disease work takes persistence and heart. He gave both generously. His steady involvement helped strengthen our organization and guide it forward.
Beyond his service, Bob will be remembered most for his kindness. He treated everyone with respect — staff, fellow Board members, families, and partners alike. He made people feel heard. He made people feel valued. That kind of impact stays with you.
We extend our deepest condolences to his wife, Esther, and to his entire family. We feel grateful to have known Bob and to have worked alongside him. His legacy lives on in the work he helped shape and, in the community, he helped strengthen.
We will miss him very much.
With gratitude,
The PC Project Board
Connect with us on social media
