- Saturday, November 15, 2025
- 10am MT / 12pm ET
- Zoom Meeting
The meeting began with welcoming attendees from around the world and introducing the PC Project’s focus on genetic conditions, including plans for future conferences and fundraising achievements. A panel of scientists and doctors discussed strategies for explaining PC symptoms to doctors, addressing pain management approaches, and exploring animal models for studying PPK. The discussion concluded with updates on funded research and clinical trials, emphasizing the importance of continued support for research and patient advocacy efforts. A big thank you to our experts, including Edel O’Toole, Michael Caterina, Pierre Coulombe, Robyn Hickerson, and David Hansen – some of the world’s most knowledgeable professionals on our rare skin diseases. Thank you to our attendees for sending your questions about PC and other rare genetic skin diseases with palmoplantar keratoderma (PPK).
AI Meeting Summary
PPK Research and Patient Support
The meeting began with Janice welcoming attendees from 16 different countries and introducing Roseanne McGrath as a PC Project Board of Trustee member. Janice provided an overview of PC Project’s focus on genetic conditions with PPK, including the reclassification of PPKs as palmar-plantar epidermal differentiation disorders. She highlighted the importance of scientific meetings and collaborations to advance research in the field. Janice also announced plans for the 2026 patient support meeting in Europe, with attendees voting between London and Paris. Finally, she acknowledged the success of the first peer-to-peer fundraising campaign, which raised over $53,000.
PC Project Doctor Education Strategies
The panel of scientists and doctors, including Dr. Pierre Coulombe, Professor Edel O’Toole, Dr. David Hansen, Dr. Robin Hickerson, and Dr. Michael Caterina, were introduced for their extensive experience and contributions to PC Project. They discussed strategies for explaining PC symptoms, particularly pain, to doctors who may not understand rare diseases, emphasizing the use of PC Project’s informational resources and focusing on the most pressing issues. Edel and David suggested bringing a support person and utilizing PC Project’s advocacy and resources to aid in communication with doctors. The panel also addressed the importance of educating doctors who are unfamiliar with PC and highlighted the availability of brochures and website information to aid in patient advocacy.
PC Pain Management and Care
The discussion focused on pain management and medical care for patients with PC (pachyonychia congenita), particularly addressing the root causes of pain and skin thickening. Michael explained that the pain in PC is primarily caused by the skin condition itself, with nerve cells in affected areas expressing different proteins and molecules than those in healthy skin. David described how the mutation leads to poorly formed keratins, causing fragile skin, inflammation, and thickening, while Edel added that neurovascular structures in severe calluses may contribute to pain. The conversation also covered how parents can care for infants with PC, particularly those with K6A mutations, and discussed access to mobility aids and walking supports for children with the condition.
PC Pain Management Strategies
The group discussed various approaches to managing PC pain, with Edel outlining different pain medications including non-steroidal anti-inflammatory drugs, acetaminophen, stronger painkillers, and neuropathic pain treatments. Michael explained that for neuropathic pain, it’s important for patients to describe the specific qualities of their pain to help doctors choose the most effective medication. The discussion highlighted the complexity of managing PC pain, with concerns raised about the potential risks of opioid use and the importance of finding safe, long-term solutions, particularly for athletes.
PPK Pain Management Strategies
The meeting focused on pain management strategies for patients with PPK (Pachyonychia Congenita), with David recommending ibuprofen as a go-to medication but emphasizing careful dosing and timing. The discussion covered various pain symptoms, including burning sensations, sharp pains, and first-bite syndrome, with Edel mentioning potential new treatments like TRP antagonist drugs. The conversation concluded with Michael discussing the future of pain research, noting that while there haven’t been many new pain medications recently, there are promising treatments in development that could help PPK patients.
Animal Models for PPK Research
The discussion focused on animal models for studying pomo planter keratoderma (PPK), with Pierre explaining that his lab has developed two generations of K16 gene-focused mouse models that mimic PPK and are being used to study pathophysiology. Robyn from TenBio described their work using abdominal skin from abdominoplasties to test therapeutic pathways, while Pierre explained that PPK involves stress-responsive keratins and multiple interconnected pathways, making it a complex condition but also offering multiple potential intervention points.
Genetic and Pharmacological PC Research
The group discussed genetic testing and its importance in diagnosing and potentially treating PC. Pierre explained that CRISPR technology could be used to target specific mutations, but safety and delivery remain challenges. Robyn mentioned advances in siRNA delivery methods, while Edel shared research on the mTOR pathway and potential treatments like rapamycin. The conversation highlighted ongoing efforts to understand PC and develop effective interventions, with a focus on both genetic and pharmacological approaches.
PC Project Research Updates
Janice provided updates on PC Project’s funded research and clinical trials. Edel shared information about ongoing and planned trials for Olmsted syndrome and other skin conditions, including a trial of an oral TRPV3 inhibitor by Kamari Pharma starting in January 2026. The group discussed the potential benefits of research and trials in other skin disorders for PC patients. Michael addressed concerns about the impact of federal funding cuts on PC research, emphasizing the importance of continued support for biomedical research.
PC Project Grant Funding Discussion
The PC Project team discussed their role in funding grants, emphasizing their importance in advancing research despite limited funding compared to larger organizations like NIH. Janice highlighted that modest grants can make significant impacts, while Edel and David explained that the effects from the Paula trial were unlikely to be permanent due to the turnover of PC calluses. The team also addressed questions about clinical trials, the relationship between PC and plantar warts, and treatments for severe carotoderma and oral symptoms, with Edel suggesting the use of lignocaine gel and ice for pain relief during trimming, and David advising on avoiding friction and pressure to prevent blistering.
Palmoplantar Keratoderma Treatment Discussion
The meeting focused on discussing various aspects of PC (palmoplantar keratoderma), including treatments for angular cheilitis, white mouth patches, and follicular hyperkeratosis. Edel and David provided insights on managing cysts and keratosis, mentioning potential treatments and the importance of distinguishing PC from other conditions like yeast infections. The group also explored the impact of aging and hormones on PC symptoms, with Pierre noting a sex bias in disease progression. Participants shared personal experiences and treatments, and Edel advised on weight management to reduce pressure on affected areas. The conversation ended with a discussion on managing chronic wounds, emphasizing the need for further research and medical studies on PC.
Plantar Keratosis Treatment Options
The meeting focused on discussing treatment options for patients with Plantar Keratosis (PC). Participants shared various methods, including the use of emollients, potassium permanganate, and Botox injections, with Edel and David providing insights on their effectiveness and potential side effects. Janice emphasized the importance of proper education and communication about PC, highlighting the need for awareness campaigns and collaboration with healthcare professionals worldwide. The group also addressed the challenges of accessing treatment and the importance of patient support in managing the condition.
PC Project Advocacy and Support
Janice and Roseann discussed the need for increased advocacy and involvement in the PC Project, highlighting the lack of full-time staff compared to the number of people reached out to. Roseann expressed her willingness to lead advocacy efforts and encouraged others to contribute by fundraising or supporting research. Janice mentioned plans for patient meetings in France and England and shared updates on ongoing research and patient data. The conversation ended with expressions of gratitude to the doctors and participants, and discussions about future involvement and support for the PC community.
