Genetics for dermatologists. Part 1: Fundamental concepts of structure, function, and clinical application

Dermatology encompasses a broad range of conditions, ranging from single-gene disorders to common complex disorders characterised by polygenic risk factors like psoriasis and atopic dermatitis. For clinicians, understanding the genetic basis of these conditions is essential for accurate diagnosis, effective management, and appropriate genetic counselling. This article aims to revisit fundamental genetic concepts, offering a foundation to a better understanding of their application in clinical practice. It introduces the fundamental genetic terminology relevant for dermatologists, along with types of mutations, inheritance patterns, key elements of pedigree charts, and major online genetic databases, which serve as valuable resources for interpreting test results and identifying disease-associated variants. Additionally, it briefly explores the basics of genetic epidemiology, including linkage analysis, and association studies.