Document Type
Poster
Publication Date
10-1-2023
Identifier/URL
39891896 (Pure)
Abstract
Netherton’s Syndrome (NS) is a rare, autosomal recessivegenodermatosis caused by mutations in SPINK5 which encodes LETKI, aserine protease inhibitor.2,4 Consequently, unopposed kallikrein activityresults in an impaired skin barrier and desquamation.2 A triad of atopy,ichthyosis linearis circumflexa, and trichorrhexis invaginata (“bamboohair”) is characteristic of this disease.1 Associated findings includehypereosinophilia and elevated IgE. Histologically, a nonspecificpsoriasiform hyperplasia and dermal lymphocytic infiltrate may beobserved.1,6 Clinically, NS is frequently misdiagnosed as atopic dermatitis(AD) and proves difficult to treat.2 Dupilumab, an IL-4/IL-13 inhibitor withFDA approval for the treatment of atopic dermatitis and prurigo nodularis,may be a promising therapy for patients with NS.3 We present alongitudinal and evolving case study of Netherton’s syndrome for itsstriking clinical presentation and challenging management.
Repository Citation
Petit, K.,
Borchers, C. E.,
& Trevino, J.
(2023). Longitudinal Follow-Up of Netherton’s Syndrome. .
https://corescholar.libraries.wright.edu/dermatology/13
