Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy

Infliximab therapy for Netherton syndrome: A case report

“… 9 Both overexpression of TSLP and thymic expression of the mutated SPINK5 gene, seem to promote an excessive helper T cell (Th) 2 response and elevation of serum IgE levels. 10 Therefore, the KLK5–PAR2–TSLP signaling pathway appears to play a key role in the development of atopic manifestations in NS. 9 …”

A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome

“…KLK5 can activate protease-activated receptor 2 (PAR-2) and lead to increased expression of thymic stromal lymphopoietin (TSLP), TNF-α, IL-8, and ICAM-1 through the KLK5-PAR2 cascade, thereby enhancing the inflammatory process (Stuvel et al, 2020). The loss of LEKTI expression in the trachea can lead to the destruction of the airway epithelial barrier, further making NS patients more susceptible to inhaled allergens (Berthold et al, 2016). LEKTI deficiency leads to increased cleavage of cross-linkage in hair keratin structures, local defect of the inner root sheath, and morphological change of trichorrhexis invaginata (Bittencourt et al, 2015).…”

Dermoscopic and reflectance confocal microscopy features of Netherton syndrome

“…RCM showed a parallel distribution of medium or highly refractile parallel granules or streaks at the subcuticular level, which clearly correlated with the thick layer of basket-weave hyperkeratosis seen microscopically. In a previous study, the classic histological criteria of NS were compared with dermoscopic and RCM findings [5]. RCM showed pronounced basket-weave parakeratosis with densely packed, bright keratinocytes.…”