Dermatological Diseases from a Genetic Perspective

The document discusses the advancements in the field of dermatogenetics, focusing on both monogenic and genetically complex skin and hair disorders. The use of next-generation sequencing technologies has led to the discovery of new genes and gene loci, aiding in the diagnosis of monogenic diseases like ichthyoses, rare hypotrichoses, and ectodermal dysplasias. However, some subtypes still await genetic elucidation due to factors like limited sample sizes and difficulties in identifying pathogenic variants. For genetically complex diseases like male pattern baldness (MPHL), alopecia areata (AA), and psoriasis, nearly 400 risk loci have been identified for MPHL, and genome-wide association studies have increased understanding of AA. Polygenic risk score (PRS) for genetic risk modelling has been developed and may be implemented in routine clinical practice. Treatments like JAK inhibitors in atopic dermatitis and biological therapeutics in psoriasis have improved the lives of individuals with dermatological disorders. Despite these advancements, gaps remain in understanding the mechanisms underlying skin disorders, necessitating further research.