Figure 1.
Pathogenesis of NS.
LEKTI: lympho-epithelial Kazal-type-related inhibitor, KLK: kallikrein-related peptidases; TSLP: thymic stromal lymphopoietin; ELA2: elastase 2.
Figure 2.
Diagnosis of Netherton syndrome.
Table 1.
Differential diagnosis of Netherton syndrome.
| Category | Representative Conditions | Overlapping Features with NS | Distinguishing Features |
|---|---|---|---|
| Inflammatory Dermatoses | Atopic dermatitis, deborrheic dermatitis, acrodermatitis enteropathica | Erythema, pruritus, eczematous or scaling lesions, onset in infancy | No trichorrhexis invaginata; transient course; response to topical therapy or zinc |
| Congenital Ichthyoses | ARCI, Ichthyosis vulgaris | Generalised scaling, skin barrier dysfunction | Absence of atopy and bamboo hair |
| Primary Immunodeficiency Disorders (PIDDs) | Hyper-IgE syndrome, (STAT3/DOCK8 deficicency); IPEX, Omenn, or Wiskott-Aldrich syndrome | Elevated IgE, eosinophilia, recurrent infections, eczema-like dermatitis | No LEKTI deficiency; systemic autoimmunity; hematologic anomalies (thrombocytopenia) |