Medical student research focuses on rare autoimmune disease

DANVILLE, Pa. – Three Geisinger School of Medicine students authored a paper published in The Journal of the American Academy of Dermatology, the official scientific publication of the American Academy of Dermatology. The paper is entitled Neonatal Familial Cold Autoinflammatory Syndrome: A Newborn with Recurrent Cold Induced Urticarial Eruptions.

Nicholas Tomassoni, MD ’28; Mary Grace Allen, MD ’28; and Kaitlin Toal, MD ’27, published the case report they produced under the mentorship of Keith Shenberger, MD and Youngjin Cho, PhD, associate professor of immunology at Geisinger.

"Working on this case was an incredible learning experience and a reminder of why I chose to go into medicine,” Nick Tomassoni said. “It reminded me of the importance of asking questions, thinking critically and learning from every patient. There is still much to uncover in medicine, and staying curious allows us to better understand and care for our patients." 

Familial cold autoinflammatory syndrome (FCAS) is a rare autoinflammatory disease occurring in approximately 1 in every 1-2 million people in the United States. The syndrome is characterized by fever, rash and joint pain. FCAS can lead to amyloidosis, kidney damage and hearing loss if untreated. That’s why early recognition in infants is critical for initiating targeted therapy, which has dramatically improved patient outcomes.

People with FCAS develop distinctive cold-induced hives — one of the most recognizable dermatologic features for early identification of FCAS in infants. This case emphasizes the importance of including FCAS in the differential diagnosis for infants with severe cold-induced neonatal hives.

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