Seborrhoeic Dermatitis (SD) is a common inflammatory skin disease that presents as itchy, flaking skin in the seborrhoeic areas. Various environmental and intrinsic factors have been identified as predisposing factors for SD, but its aetiology remains poorly understood. Although it was recognized that genetic factors play a role in SD aetiology, there have not been studies that systematically review the literature specifically for causal mutations or protein deficiencies in SD. In this review, we searched various databases for gene mutations and protein deficiencies that cause SD or SD-like phenotype in humans and experimental animals, and summarize 11 gene mutations or protein deficiencies that were described in the literature. Most of the encoded proteins play a role either in the immune response (ACT1, C5, IKBKG/NEMO, STK4, 2C TCR) or epidermal differentiation (ZNF750, MPZL3). Understanding the genetic basis of SD can impart knowledge of the pathobiology of the disease and help identify novel therapeutic targets.
© 2017 European Academy of Dermatology and Venereology.