Genetic Basis of Autoinflammatory Skin Diseases. Part I. Genetic Pathways of Complex Autoinflammatory Skin Diseases.

Burke, Olivia M; Lin, Rachel; Elman, Scott A; Alvarez Cespedes, David; Thorson, Willa; Maderal, Andrea · J Am Acad Dermatol · 2025

review · Level V

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Abstract

This continuing medical education article provides a comprehensive review of the genetic underpinnings of complex autoinflammatory skin diseases, with a focus on neutrophilic dermatoses, autoinflammatory syndromes, and certain vasculitides. Genetic mutations play a critical role in both the diagnosis and management of these conditions, making a detailed understanding of genetic markers essential for clinicians. Each disease is examined in terms of clinical manifestations, genetic mutations, and available treatment options. This work aims to provide clinicians with practical guidance on genetic testing strategies, diagnosis, and personalized management of inflammatory skin diseases, reflecting advances in precision medicine and the growing importance of targeted therapies for patients with rare genetic conditions.