Pathogenesis

* Genetic predisposition (more than 80 genes in AD) & environmental factors influence 3 major categories of AD pathogenesis

1) Epidermal barrier dysfunction

* Portal for irritants, allergens & microbes = activation of immune responses

  • Loss of function filaggrin gene mutation ↓ filaggrin protein → ↓ epidermis hydration, ↓ acid mantle formation, ↓ lipid processing & abnormal corneocyte formation
  • ↑ protease (KLK5 & KLK7) & ↓ protease inhibitor:
    • Proteolysis due to protease inhibitor deficiency, ↑ skin pH & exogenous proteases (allergens, Staph aureus, Malassezia) → ↑ desmosome degradation → abnormal corneocyte adhesion
  • Abnormal lipids:
    • 2nd to filaggrin-deficiency → abnormal lamellar body & lipid processing → ↑ permeability

2) Immune dysregulation

* 3 main cells: keratinocytes, T-cells & APC

A- Adaptive immune dysregulation

  • Acute lesions:
    • Th2 response (IL-4, IL-5, IL-13, IL-31) with keratinocyte cytokines (TSLP, IL-1, IL-25, IL-33) contributing to Th2, activation of eosinophils & mast cells, production of IgE, and a Th17 response
  • Chronic lesions:
    • Th1, Th17 & Th22 responses

B- Innate immune dysregulation

  • Innate lymphoid cell group (signal Th2 inflammation via interactions with other immune cells)

3) Cutaneous microbiome

90% AD colonized with S.aureus due to abnormal acid mantle, altered cytokines & ↓ antimicrobial peptides (cathelicidins, defensins)

  • With AD flare → ↑ burden of S.aureus (from 35% to 90%) composing the microbiome
  • Skin exposed to S.aureus superantigen → IL-31 (Th2 cytokine & pruritus)
  • S. aureus δ-toxin → mast cell degranulation & contributes to Th2 activation
  • S. aureus α-toxin → filaggrin deficiency ↑ risk of cytotoxicity in keratinocytes