Living With Pachyonychia Congenita: Patient Perspectives and Activism

For patients struggling with debilitating pain from pachyonychia congenita (PC) calluses, what may seem like a simple task or movement can be unbearable. PC is a rare, autosomal dominant inherited disorder of keratinization characterized by focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It is estimated that PC affects approximately 1000 to 10,000 patients worldwide, but its actual prevalence is most likely higher.¹

With a relatively rare disease such as PC, increased education and awareness are needed to help clinicians identify PC and provide patients with the mental and physical support that they need. The PC Project is a US-based charity that is dedicated to providing international support to patients with PC through educational materials and its one-of-a-kind International Pachyonychia Congenita Research Registry.

Executive director of the PC Project, Janice Schwartz, is a “PCer and a parent of PCers,” and dedicates her efforts daily to helping patients receive the diagnosis they have been missing for years, as well as helping to provide educational materials and resources to clinicians.

In an exclusive feature, Janice spoke about how the PC Project is working to change the lives of those with PC, the personal challenges she has faced, and what clinicians can do to help their patients.

Janice Schwartz, Executive Director of the PC Project

Dermatology Times: What inspired the creation of the PC Project and what has your involvement included?

Janice: My 2 sons who havepachyonychia congenita (PC) were the inspiration for PC Project. Because I’ve lived with PC my entire life with no satisfactory answers, I just assumed we’d have to navigate life as best we can with PC. We were too rare for anyone in the science and medical world to care about. That was always my thought. However, my mother-in-law, who continually saw her 2 young grandsons limping in pain, was not content with that idea. She said, “Let’s do something about this.” And she did. My mother-in-law, Mary Schwartz, is the one who did the hard work of getting PC Project established as a 501(c)3 charity in 2003, built the first website, and built the foundation of PC Project as the main leader for the first 14 years.

PC Project was created because of a grandma’s love for her grandchildren. In fact, you’ll notice that our logo is a heart with a DNA strand in it (and also a foot to remind people that PC hurts feet most of all). We never want to forget that our organization was founded on love and continues today to be driven by love for these patients who hurt every day of their lives.

As for my role, I was with Mary from the beginning, but as a mom raising my young family of 4 children, I was not as involved in the day-to-day work of running the PC Project. I served on the board of directors as the secretary, as a patient advocate to help patients and caregivers new to our community, and I especially helped with patient support meetings, particularly the children’s sessions. In 2017, I took over the leadership role of PC Project full time, and I can honestly say, that while PC Project started because of my 2 children, I have “children” of all ages, all over the world with PC, and I love them all.

We were very naïve in the beginning. In 2003, my mother-in-law and I thought we could just give a researcher some money and get a cure. Fortunately, we were introduced to a remarkable dermatologist/scientist at the University of Utah, Dr. Sancy Leachman, who encouraged us to gather experts around the world who might be interested in this disease space for a symposium for PC. We invited them to Park City, Utah, in February 2004 to ski and to have presentations and discussions about how to get research started for PC.

At that meeting, the International PC Consortium of scientists and physicians interested in PC was established. We’ve hosted a symposium every year since where we invite the best and the brightest people in our diseases space to present, collaborate, and discuss ways to advance PC research. We keep in contact with key members of the consortium all year round and they are the driving force in our progress for PC research and drug development.

At that first meeting, the newly formed consortium recommended we start a patient registry. With the help of these experts, PC Project established a HIPAA-compliant, IRB-approved in-house patient registry, the International Pachyonychia Congenita Research Registry. It started with 3 patients and continues to grow today, with over 2600 patients in over 53 countries, most of whom have PC, but some who have other similar conditions, especially those with painful palmoplantar keratodermas

Dermatology Times: What resources does the PC Project provide for patients?

Janice: The most important resource PC Project provides for patients is participation in the International PC Research Registry. Most patients find PC Project through an internet search of their symptoms, not because they have a diagnosis and unfortunately not because of a physician’s referral. They have typically been to multiple dermatologists and podiatrists throughout their lives, but still have no answers. Because of the rareness of PC, the disease is not being recognized in the clinic. So, when patients find us, they fill out the registry questionnaire, which is diagnostic in nature, and provide photos of their symptoms. Then, if we think we can test them on our 49-gene panel, we offer free genetic testing to find the pathogenetic mutation. All cases and results are reviewed by our volunteer PC Genetics Team of expert scientists and physicians.

For patients who have lived for decades without a name for their condition, receiving a diagnosis is emotional and life-changing. For parents of children with spontaneous cases of PC, this knowledge helps them know what their child will deal with and how to best manage PC. Even before receiving a diagnosis through genetic testing, when patients first find PC Project and we talk on the phone, they often weep and are overcome with emotion because they are so overwhelmed to finally be talking with someone who understands why they can walk one minute and not take another step the next. PC is complex in that way and very difficult for others to understand the variable pain. Giving patients a chance to connect with someone who understands is powerful.

Thus, with the registry service, PC Project offers individualized patient support as well as community support. We spend hours on the phone or via email helping patients, answering questions, writing letters for help with accommodations for schools, work, handicap parking placards, etc. We produce regular newsletters and awareness campaigns, and host online forums where patients can connect with one another to share management ideas and give encouragement. I love to see our patients rally around one another, especially when it comes to helping new parents help their PC children with both care ideas and how to handle emotional and social situations like bullying. PC Project hosts town halls and other live online events, and once a year, we host a patient support meeting, alternating between US locations and European locations. And with a registry of genetically confirmed patients, we are able to notify them of studies and clinical trials, often answering questions about the studies and connecting them to the principal investigators running the trials.

Our website contains a plethora of information about PC, including articles, care and management tips, the latest events and news in the PC world, brochures about PC, an epic image library, and publications about PC: https://www.pachyonychia.org/

And of course, even though this may not be a direct patient service, PC is the only organization in the world that facilitates and funds PC research. Because even with all of the patient support we provide, at the end of the day, what all patients want and need are effective, meaningful treatments, of which there are currently none, and ultimately a cure. Those are our end goals and a huge part of our mission. We strive for those things. So yes, we’d like to think that we are helping patients more happily and successfully navigate life with a painful, embarrassing, and debilitating rare disease. But we don’t lose sight of what we really want – treatments that reduce pain and increase mobility for all our patients.

Painkillers can help, but they are not a satisfactory solution because while they may mask the pain or take the edge off the pain, if a PC patient walks or stands on their feet, the damage will still be done, whether they can feel it or not. A patient may take say some ibuprofen to reduce the pain so they can walk a little more than usual, but the resulting trauma and damage will be increased blistering and pain, which the patient will then have to heal from to get back to their “normal” PC pain. Because we are actively empowering research for PC, we give patients hope and at least the assurance that someone cares about them and is trying hard to make a difference for them.

Image courtesy of the PC Project

Dermatology Times: As a patient with pachyonychia congenita and a parent of children with PC, what do you wish physicians knew about the condition?

Janice: I wish physicians understood that the number one challenge of PC is pain. Because the name pachyonychia means thick nails, doctors sometimes think PC is only a thick nail problem, something merely cosmetic but not really that difficult to live with. However, the calluses, which can blister and bleed, are debilitatingly painful. They are not like a runner’s calluses, but something horrifically painful even if they look exactly like a regular callus that a non-PC person might get. PC calluses are different, and they hurt incredibly. In fact, patients often crawl at home because their daily allotment of steps is used up. They also use canes, crutches, and wheelchairs to relieve the pressure off the bottoms of their feet. They sleep with their feet outside of the bedcovers because the pressure can be too much on tender PC feet. Patients need to be believed when they tell their physicians they have pain. And it’s okay if a doctor doesn’t know very much about PC as long as they are willing to listen and learn from the patient.

Also, not all patients with PC have 20 thickened nails. Some mutations in the 5 PC genes may have only 1 or 2 thickened toenails, and therefore, a clinical diagnosis may be missed. The diagnostic triad of PC is 1 to 20 thickened nails, calluses on the bottoms of the feet, and pain. If a person does not have painful calluses by the time they are about 15 years old, they most likely do not have PC.

That said, if a doctor has a patient with suspected PC, we invite them to refer their patients to our registry to find out, as we review the case and offer free genetic testing. We have a section on our website that explains this process and we would love more dermatologists to send their patients with painful plantar keratodermas our way: https://www.pachyonychia.org/refer-patient/ 

Our help does not replace the localized help a dermatologist can give. But together, we can give patients a confirmed diagnosis and the best care management and support possible.

Another thing I’d like a physician to know is that PC Project, with its team of medical and scientific experts, is more than happy to connect and help them learn about PC if they have questions or need anything at all. If they have questions about something they want to prescribe for their patient, we are happy to answer and tell them all we have learned. Our website is also a fantastic resource for not just patients, but doctors as well, letting them know which medications may help with care and which ones are useless.

Finally, so many patients in our registry report that they go to the dermatologist who simply says they have keratoderma on the bottoms of their feet and since there is no cure for it, it doesn’t matter what they really have. For me, who has personally seen the lives of numerous patients change by simply having an accurate name for their condition, I cannot stress enough the empowering feelings a patient has when they finally know the cause of their disease and why they have the symptoms they do. I know for my own boys, who received genetic testing when they were young, knowing their painful feet, thickened nails, and other PC symptoms were caused by a simple mistake in their DNA took away all the weirdness and mystery of their condition.

Most importantly, as research progresses, certain drugs that inhibit specific pathways are being explored and moving into clinical trials. A patient needs to know for sure what mutation they have – through diagnostic genetic testing – so they can know if they can be in a trial and if those treatments might work for them specifically. Knowledge is power when dealing with a rare disease like PC. Not only that, because PC Project is now testing on a 49 gene panel, we are finding mutations for other rare skin diseases and frankly, but some of them also present just like some PC cases. Without genetic testing, these patients cannot get a correct diagnosis and will not know if a treatment works for them.

Dermatology Times: How would you describe PC to someone who is unfamiliar with the condition?

Janice: Pachyonychia congenita is an ultra-rare, chronically debilitating, genetic skin disorder caused by pathogenic mutations in any one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. These mutations render the skin cells of the palms and soles structurally weak. Thus, the palm and sole epidermis of PC patients are vulnerable to sheer stress.

Although the palms can be affected if patients do manual labor, this is especially true of the soles of the feet, where the mechanical stresses are much higher due to standing, walking, etc. The feet of PC patients, having this extremely fragile epidermis, are exquisitely painful and furthermore, blistering and callusing occur in response to pressure of any type.

As mentioned previously, even though the name pachyonychia congenita means “thick nails” that is just one characteristic associated with the disease. In truth, the most striking physical symptoms of PC are the painful calluses and blisters on the soles of the feet and sometimes the palms of the hands. As a result, the painful calluses make walking difficult or impossible and many patients use mobility aids or when they are home, they crawl. We think PC really stands for painful calluses. And in some cases, painful cysts, too. So, the PC part is right!

Other common features may include palmar keratoderma, nail dystrophy, oral leukokeratosis, follicular hyperkeratosis, and cysts, which can also be extremely painful. Currently, there is no cure or approved treatment for PC. Patients most often manage their own symptoms with frequent trimming and filing of the thickened calluses and nails, lancing their blisters and cysts, and using ointments or creams to soften the calluses and prevent fissures. However, when infections occur, either in the nails, with the cysts, or the calluses, a PC patient needs an understanding dermatologist to turn to for extra help.

Thank goodness, we have a fantastic network of both physicians and researchers in the International PC Consortium who have taken the registry data, learned from it, and magnified it through publications and presentations and who still actively work with us today. And with these professionals, along with registry patients, who share their de-identified data and who are willing to participate in clinical trials, PC is getting more attention than it ever has before.

Even though I once thought my children and I would have to live our lives the best we can with PC, I am committed to and absolutely believe in the vision of PC Project: A day when PC patients will live without debilitating pain, embarrassment, and isolation.

For more information about the PC Project or referring your patients, click here.

Reference

1. Mccarthy RL, De Brito M, O'toole E. Pachyonychia congenita: clinical features and future treatments. Keio J Med. 2023;10.2302/kjm.2023-0012-IR. doi:10.2302/kjm.2023-0012-IR