Genetic Basis of Autoinflammatory Skin Diseases. Part II. Clinical Applications in Dermatology.

Abstract

Genetic testing enhances the accuracy of diagnosing and managing complex autoinflammatory skin diseases. Advancements in diagnostic methodologies, including next-generation sequencing, whole exome sequencing, and whole genome sequencing, have improved the detection of rare genetic variants, facilitating personalized treatment approaches and optimizing patient outcomes. While techniques such as microarray analysis and targeted sequencing panels contribute to the identification of disease-associated variants, NGS provides a broader scope, enabling the simultaneous detection of multiple genetic alterations. This article examines the distinctions between genetic tests for somatic and germline mutations, highlights the role of genetic counseling, and discusses how genetic testing informs tailored therapeutic strategies.