At the 2023 American Academy of Dermatology (AAD) Association Annual Meeting, PC and other painful conditions with PPK were featured in a special focus session “Palmoplantar keratoderma (PPK): step by step” on Saturday, March 18, 2023.
We are thankful for all our dermatologist friends, old and new, who attended. We passed out PC brochures and Utah truffles to all attendees to share a little love from the home state of PC Project.
Most of all, we were thrilled that PPKs had a place on such a prestigious program. To our knowledge, this is the first PPK session ever at the AAD. We hope it was just the first of many more in the years to come. Many thanks to our session director, Professor Eli Sprecher who is the chair of the International PC Consortium, for organizing the session, along with members of our PC Steering and Genetics Committees, Professors Edel O’Toole and Alain Hovnanian, for presenting.
Joyce Teng, Alain Hovnanian, Eli Sprecher, Edel O’Toole, Janice Schwartz
U052 Palmoplantar keratoderma: step by step
Date: Saturday, March 18, 2023
Time: 4:30 PM to 5:30 PM Central Time
- Recognize the major pathways connecting the pathogenesis of palmoplantar keratodermas to their clinical manifestations.
- Diagnose inherited palmoplantar keratodermas through practical clinical algorithms.
- Treat inherited palmoplantar keratodermas using traditional as well as novel targeted approaches.
Session description The last 10 years have witnessed dramatic advances in our understanding of inherited palmoplantar keratodermas. Recent observations suggest that these disorders may be more frequently encountered in our daily practice than previously thought. This session will provide attendees with an overview of our current understanding of the clinical spectrum and pathogenesis of the inherited palmoplantar keratodermas as well as a practical approach to their diagnosis and treatment. This session is intended for general and pediatric dermatologists.
4:30-4:45 PM: Understanding palmoplantar keratodermas (pathogenesis)
Eli Sprecher, MD, PhD
Eli Sprecher received his MD and PhD degrees from the Hebrew University of Jerusalem and specialized in dermatology at the Rambam Medical Center, Haifa. He spent a post-doctoral fellowship at Thomas Jefferson University, Philadelphia. He became Chair of the Department of Dermatology at the Tel Aviv Medical center in 2008, Professor of Dermatology at the Sackler Faculty of Medicine, Tel Aviv University in 2010 where he also received the Frederick Reiss chair of Dermatology in 2014. He also served as Deputy Director General for Patient Safety till 2019 and is now Deputy Director General for Research and Development at the Tel Aviv medical center. He has co-authored over 300 scientific publications, has mentored over 40 students and has received numerous national and international prizes and honors. His research focuses on the genetic basis of skin diseases. His group aims at understanding the molecular genetics of both simple and complex traits, deciphering their pathogenesis and then attempting at translating this new knowledge into innovative therapeutic tools.
4:45-5:00 PM: Diagnosing palmoplantar keratodermas (clinical features, diagnostic algorithms)
Edel O’Toole MD, PhD, FRCPI, FRCP
Edel O’Toole is a clinical academic and Centre Lead of the Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry with an active research group working on rare and common genetic skin disease biology and is also an honorary consultant dermatologist at the Royal London Hospital, Barts Health NHS Trust. She trained in Medicine at University College, Galway, Ireland, followed by general medical and dermatology training in Dublin and London. She was a Dermatology Foundation followed by a Howard Hughes Medical Institute Post-Doctoral Fellow with David Woodley at Northwestern University in Chicago from 1994-1998. Her specialist clinical interests are ichthyosis and palmoplantar keratodermas. She is the current clinical lead for the British Association of Dermatologists Dermatology and Genetic Medicine network. She is Chair of the Medical Advisory Board of the Ichthyosis Support Group, is on the steering committee of Pachyonychia Project and is actively involved in 100K Genomes, a gene discovery project within the NHS. She is on the board of the ESDR.
5:00-5:15 PM: Treating palmoplantar keratodermas (traditional and novel therapies)
Alain Hovnanian, MD, PhD
Alain Hovnanian, M.D, Ph.D, obtained his medical degree at University of Paris and trained in Dermatology and in Genetics in Paris. From 1993-2000, he did his post-doctoral fellowship at the Wellcome Trust Centre for Human Genetics at the University of Oxford, UK where he acquired experience in positional cloning of disease genes. He identified in particular the genes for recessive dystrophic epidermolysis bullosa, Darier disease and Netherton syndrome. He is now Professor of Genetics at the University of Paris and Director of an INSERM research laboratory on genetic skin diseases at the Imagine Institute for genetic diseases. His research interests include epidermolysis bullosa, Netherton syndrome and palmoplantar keratoderma with a specific focus on Pachyonychia congenita (PC) and Olmsted syndrome (OS). In 2021, he was awarded the “Eurordis Black Pearl Award” for rare diseases. He is a member of the scientific advisory board and Genetics team of Pachyonychia Project. He recently identified a new gene for Olmsted syndrome, described EGFR hyperactivation in PC and showed that the oral EGFR inhibitor Erlotinib was an effective treatment for OS and PC patients.
5:15-5:25 PM: Living with palmoplantar keratoderma
Janice Schwartz, BA
Janice Schwartz earned a Bachelor’s degree in Communications with an emphasis in advertising from Brigham Young University. She has been associated with Pachyonychia Congenita Project since it was established. Born with a spontaneous case of PC, she was given a clinical diagnosis early in life, but it wasn’t until 2004 that she received a genetic confirmation of her KRT6A mutation. She has served on the PC Board of Trustees and as a PC Advocate, particularly helping and encouraging parents of children born with PC. She has planned and lead discussions at patient support meetings throughout the world and especially enjoys teaching children and teenagers with PC about their disorder and how to successfully deal with PC in daily life. She currently leads PC Project as a volunteer executive director. Janice lives in Salt Lake City, Utah with her husband and has four children, two of whom have PC.
5:25-5:30 PM: Q&As