Association of Genetic Factors in the Occurrence of Acne Vulgaris and its Implication in the Development of Severe Acne

Abstract

Acne is an inflammatory disease that usually affects the pilosebaceous unit. It is a very common disease worldwide and its onset during puberty is common. Multiple studies have shown that up to 95% of adolescents will be affected to some degree during their lifetime, being the female sex the most affected. It is frequently associated with monogenic diseases such as Apert syndrome; comedonal nevus; Frank-ter Haar syndrome, among others. The pathogenesis is multifactorial, however, it has been demonstrated that there are four interrelated factors, being these the increase of sebum production, hyperkeratinization of the follicular infundibulum, inflammation and microbial infection. Some genes frequently involved in affected patients are SELL, DBB2 and TP53, whose function is the regulation of hemostasis and cutaneous inflammation; the regulation of apoptosis of damaged DNA and the formation of scars associated with severe acne, respectively. It is common to observe comedones, pustules, papules and cysts as characteristic lesions, face and thorax are the most frequent location. It has been shown that the incidence decreases between the fourth and fifth decades of life, also, generally in affected individuals the lesions resolve spontaneously leaving scars in severe cases.