Genetic susceptibility to raised dermal scarring

Abstract

Raised skin scars, such as keloid and hypertrophic scars mostly occur post-wounding in the human dermis. There is compelling evidence for a genetic component to these conditions, given the familial predisposition, varied incidence in different ethnic populations and the presence in twins. The aim of this study was to perform a systematic review of the literature regarding genetic susceptibility to raised dermal scarring. We identified relevant articles by a systematic search of relevant search engines. Key search terms included: keloid disease, hypertrophic scarring, fibrosis, linkage analysis, gene expression, human leucocyte antigen system (HLA), twins, families, case-control association study and congenital syndromes. Numerous candidate genes have been identified, along with potential linkage regions on different chromosomes. Recent data also suggest that carriers of specific major histocompatibility complex (MHC) alleles, in particular HLA-DRB1*15, HLA-DQA1*0104, DQB1*0501 and DQB1*0503, are at increased risk of developing keloid scarring. In addition, distinct immunophenotypical profiles can distinguish between keloid and hypertrophic scars. Keloid and hypertrophic scars are multifaceted aberrations of the healing process with as yet incompletely understood aetiologies. Current data suggest a genetic susceptibility with a strong immunogenic component to dermal fibrosis with MHC genes being implicated. It appears unlikely that a single gene is responsible for the development of raised dermal scars. A likely scenario may involve the interaction of several gene pathways in addition to environmental factors. The ability to assess accurately an individual's potential genetic susceptibility to raised scarring may lead to a more personalized approach to their management in the future.