Abstract
Hidradenitis suppurativa (HS) is an inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent 40% of the total HS cases and show an autosomal dominant mode of inheritance of the disease. By studying an HS family we found a rare DCD gene frameshift insertion in heterozygosis (rs538180888); DCD encodes for dermcidin (DCD), an antimicrobial peptide (AMP) produced by sweat glands. AMPs are considered key effectors of cutaneous innate immune responses and are normally constitutively expressed in human epithelia by keratinocytes, neutrophils, sebocytes or sweat glands; deregulation in the expression of AMPs, including DCD, may be associated with the etiology of inflammatory skin diseases, such as HS.
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