Genetics and epigenetics of keloids.

Significance Keloid scarring is cosmetically disfiguring, psychosocially distressing and potentially physically disabling. It is a financial burden affecting patients and health care systems. The pathophysiology of keloid formation is poorly understood and subsequently treatment options are ill-defined, limited and largely unsatisfactory. Recent advances Increased research on the genetic and epigenetic mechanisms in keloids has broadened our understanding of keloid pathobiology. Epigenetic mechanisms, mainly DNA methylation, histone modification and non-coding RNAs, are currently being widely investigated. Advances in genetic sequencing technology and reduced cost have also aided this endeavour. Studies on blood and patient-derived keloid tissue are being done with therapeutic agents targeting epigenetic and genetic markers with the shared goal of identifying the pathways underlying the initiation and maintenance of keloids. These advances have informed us of multiple complex molecular pathways implicated in keloids which are yet to be fully elucidated. Critical issues Improved understanding of the genetic and epigenetic causes implicated in keloids will enhance our knowledge on this enigmatic disorder and likely lead to the development of therapeutic targets based on the available clinical and experimental studies. Due to the incomplete knowledge of molecular targets involved in keloid scarring pathways, therapeutics is still lagging for this clinically and scientifically important condition. Future directions Focused research on identification of molecular targets and mechanistic pathways implicated in keloids is required to generate novel antifibrotic therapeutic options to decrease or eradicate recurrence of the disease as well as associated morbidity and improve the quality of life of those affected with keloids.