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New frontiers in ichthyosis and itch

Complex skin diseases such as ichthyosis often lack established management guidelines or approved treatments, according to Dr. Cheryl Bayart, a pediatric dermatologist at the University of Cincinnati.


During a session on ichthyosis and other conditions related to itch at the 2024 sessions of the American Academy of Dermatology in San Diego, Calif., Dr. Bayart emphasized the importance of collaboration and resource utilization in her approach to improving outcomes and quality of life for these patients. She highlighted the need for physicians to engage with patients and their families to address the challenges posed by these diseases.


“The best approach for a rare disease is to marshal a broad scope of your available resources and partner with your patient and their family. With rare conditions, it is important to be humble and ask for help, and be brave enough to tell families you do not have answers yet, but you are going to find out, and ask experts in the field who you may have never met,” Dr. Bayart said during the session. “As dermatologists, we are accustomed to scouring the medical literature and reaching out to our colleagues for assistance with challenging cases.”


Dr. Bayart talked about the importance of the Foundation for Ichthyosis and Related Skin Types (FIRST), a patient advocacy organization established to improve lives and find cures for those affected by ichthyosis and related skin types. Dr. Sarah Asch, the session co-director, is a North Oak, Minn. pediatric dermatologist and chair of FIRST’s Medical and Scientific Advisory Board.


Dr. Bayart noted the treatment of ichthyosis is being transformed by an increasing focus on genetic testing. This shift challenges traditional treatment paradigms, where barrier creams and oral retinoids were considered the primary therapeutic approaches. Genetic testing now plays an important role in guiding treatment strategies by providing insights into disease mechanisms and prognosis, she said.


Advancements in genetic research, led by Dr. Keith Choate’s The Ichthyosis Project, have identified causative genes and correlated genotypes with phenotypes, she said, adding that research is moving toward targeted treatments that are more efficacious and have fewer side effects when compared to conventional approaches.


“We are learning more about the effects of long-term inflammation on joints and metabolic processes, and that ichthyosis is more than skin deep,” she said.


“Genetic testing can to some degree help physicians provide patients with anticipatory guidance regarding clinical course and prognosis. Identifying the mode of transmission can help provide reproductive counselling.”

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