PC Project is participating with a group of international experts to reclassify ichthyoses and palmoplantar keratodermas. The group of 18 experts, including representatives from two patient organizations, has been meeting regularly as a large group and in sub-groups, some starting as long as two years ago. Janice Schwartz, PC Project’s executive director, was invited to participate on behalf of the many patients in the International Pachyonychia Congenita Research Registry who suffer from genetic skin conditions with painful palmoplantar keratoderma.
All participants came together in Paris on April 28-30, 2024 for three intense work days to combine the collective progress of the team and continue the project. Along with robust discussion, great respect and collaboration resounded from these professionals. PC Project is honored to have a role in this pivotal project and is grateful for the efforts of each contributor:
- Masashi Akiyama, MD, PhD, Nagoya University Graduate School of Medicine
- Mandy Aldwin-Easton, President European Ichthyosis Support Group
- Christine Bodemer, MD, PhD, Hopital Necker Enfants Malades, Paris
- Keith Choate, MD, PhD, Yale School of Medicine
- Judith Fischer, MD, PhD, Universität Freiburg
- Antoni Gostynski, MD, PhD, Maastricht UMC+
- Angela Hernández Martin, MD, PhD, Hospital Infantil Niño Jesús, Madrid
- Alain Hovnanian, MD, PhD, IMAGINE Institute, Paris
- Akemi Ishida-Yamamoto, MD, PhD, Asahikawa Medical University
- Juliette Mazereeuw-Hautier, MD, PhD, Toulouse Hospital, Paul Sabatier University, Toulouse, France
- Edel O’Toole, MD, BCh, PhD, FRCP, Queen Mary University of London
- Amy Paller, MS, MD, Northwestern Medicine
- Matthias Schmuth, MD, PhD, Medical University Innsbruck
- Janice Schwartz, BA, Executive Director, Pachyonychia Congenita Project
- Eli Sprecher, MD, PhD, Tel Aviv Sourasky Medical Center
- Gianluca Tadini, MD, PhD, University of Milan
- Joyce Teng, MD, PhD, Stanford University
- Céline Tournier, PhD, Centre Hospitalier Universitaire de Toulouse
Background: Advancements in understanding palmoplantar conditions (like pachyonychia congenita) and ichthyoses allow for the consideration and testing of new treatments that directly target the causes of the disease. Therefore, the classification of palmoplantar diseases and ichthyoses needs to be updated based on the underlying causes of the condition. This approach has been utilized in updating other domains, such as in oncology, for example.
For the update of the classifications, an international group of experts (from Europe, the United States, the Middle East, and Asia) convened in Paris from April 28th to 30th, 2024. Due to the similarities between ichthyosis and palmoplantar keratodermas, the latter will be integrated into this new classification, which will thus comprise 3 groups:
- Non-syndromic forms of ichthyosis
- Syndromic forms of ichthyosis (involving the involvement of organs other than the skin, nails, hair)
- Palmoplantar keratodermas
The objectives of the new classification, which will be soon published in medical literature, were as follows:
- Integrating the gene name into the name of the ichthyosis or PPK type
- Removing pejorative terms such as “vulgar” ichthyosis, for example
- Highlighting the consequences of genetic mutations
- Providing a better description of the clinical signs of the diseases
The participants plan to disseminate this classification and explain it to healthcare professionals, patients, and patient associations. In the future, this classification can be updated based on advancements in research. More information about this project and the resulting publication will be forthcoming in the next months.
Thanks to Pierre Fabre for generously sponsoring this critical project, including the Paris work meeting.
Below are photos from the April gathering in Paris. Click individual photos to enlarge.
