Takeaway: SERPINA12 Gene Mutations Identified as New Cause of Hereditary Palmoplantar Keratoderma

Last updated: 03/08/2026 02:43

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Researchers identify SERPINA12 gene mutations as a novel cause of hereditary palmoplantar keratoderma. The discovery expands genetic testing options for this rare skin disorder. — Photo by Noah Buscher on Unsplash (Unsplash License)

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3 key points about SERPINA12 discovery: 1️⃣ New genetic cause of palmoplantar keratoderma identified 2️⃣ Expands genetic testing panel for rare skin disorders 3️⃣ May inform future targeted therapy development

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ByProf. Giorgi Pkhakadze, MD, MPH, PhD

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MD, MPH, PhD. Editor-in-Chief, Georgian Medical Journal (GMJ). Professor and Head, School of Public Health, David Tvildiani Medical University (DTMU), Tbilisi, Georgia. Chair, Public Health Institute of Georgia (PHIG). President, Accréditation Sans Frontières (ASF), Paris. Secretary/Treasurer, UEMS Section of Public Health. WHO Consultant, Health and Migration, Geneva. Former Member, UN Secretary-General's Independent Accountability Panel for Every Woman, Every Child, Every Adolescent (IAP-EWEC, 2016–2021). ORCID: 0000-0001-7609-4515.

Takeaway: SERPINA12 Gene Mutations Identified as New Cause of Hereditary Palmoplantar Keratoderma

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