Palmoplantar Keratoderma Diseases Reclassified by Gene Name

PC and the other rare genetic skin diseases with PPK in our registry are now classified in a larger group called Palmoplantar Epidermal Differentiation Disorders (pEDDs)

For years, PC Project has identified the diseases in our registry by the gene names where the disease-causing variants are located (K1, 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 characterized by palmoplantar keratoderma (thick skin on the palms or feet), including PC, are being classified by the gene where the disease-causing mutation is located. They are now included in a group called Palmoplantar Epidermal Differentiation Disorders (pEDDs), part of a larger group of EDDs.

Read about the new pEDD reclassification here:

This new way of classifying pEDDs (something we are already doing) helps our patients because the name is based on the actual genetic cause of their condition, not just how it looks or what it’s called. This has always been important to PC Project, and why we’ve offered genetic testing as part of our registry for the past 20 years.

This reclassification of pEDDs is essential to us because it means:

  • More accurate diagnoses – Doctors can know exactly what kind of disorder someone has – and patients have proof of their disease (something often needed to be believed and to get the right care).
  • Better treatment choices – Many new treatments being developed are targeting the specific genetic problem. Knowing the exact type of pEDD helps doctors choose the right treatment – and allow patients to know their gene mutation to participate in clinical trials.
  • Less confusion – Many PPK patients, including those with PC, have been consistently misdiagnosed or given the wrong name for their condition because the old system was inconsistent. A clear, genetic-based system can give patients better answers.
  • Faster access to care – An accurate diagnosis can help doctors recognize and treat rare conditions sooner, especially when they’re unfamiliar with pEDDs like PC and other diseases with painful PPK. And with correct data from patient groups like PC Project, doctors and patients have accurate information about each genetic disease and the way it affects the patients.

In short, this reclassification matters because it leads to better care, better treatments, and more hope for people living with painful and often misunderstood skin disorders like PC and other with rare PPKs.

Other related new classification articles

PC Project’s leader, Janice Schwartz, was honored to be part of the years-long process and continues to work with these professionals in the reclassification group who are among the worlds’ leaders in our disease space: https://www.pachyonychia.org/reclassification/