Izvorni znanstveni članak
Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments
Daniela Kraljević
; Department od Pediatrics, University Clinical Hospital of Mostar, Mostar, Bosnia and Herzegovina
*
Svjetlana Mikulić
; Department od Pediatrics, University Clinical Hospital of Mostar, Mostar, Bosnia and Herzegovina
Ante Damjanović
; Department od Pediatrics, University Clinical Hospital of Mostar, Mostar, Bosnia and Herzegovina
* Dopisni autor.
Sažetak
Netherton syndrome (NS) is a rare autosomal recessive disorder
caused by SPINK5 mutations, leading to LEKTI deficiency and skin barrier
dysfunction. It manifests as ichthyosis, trichorrhexis invaginata (bamboo
hair), and atopic diathesis, including food allergies, asthma, and elevated IgE
levels. Early genetic testing is key for accurate diagnosis and treatment. We
report a case of a two-year-old girl initially diagnosed with atopic dermatitis,
presenting with severe, persistent skin issues from infancy. The symptoms
included dry, scaly, and inflamed skin, along with elevated IgE levels and
polysensitization to food allergens. Trichorrhexis invaginata was identified,
and genetic testing confirmed NS. Despite treatments with corticosteroids
and emollients, the patient continued to experience flare-ups, leading to
the use of biological therapy, specifically secukinumab, due to persistent
skin barrier dysfunction. NS is often misdiagnosed due to its overlap with
atopic dermatitis, especially in early stages. Mutations in SPINK5 vary in
severity, influencing treatment outcomes. Current therapies, including
corticosteroids, emollients, and immunomodulators, provide limited relief.
New treatments like IVIG, retinoids, and biologics (e.g., secukinumab, dupilumab)
show promise in managing inflammation and restoring the skin barrier,
with secukinumab targeting IL-17A showing significant improvements.
The psychosocial impact of NS affects the patient’s quality of life, causing
anxiety, social withdrawal, and family stress. Early genetic testing, targeted
therapies, and psychosocial support are crucial for managing NS. Future research
should focus on improving genetic testing accessibility, optimizing
combination therapies, and addressing psychosocial challenges
Ključne riječi
Netherton syndrome; atopic dermatitis; SPINK5 gene; genetic testing; secukinumab
Hrčak ID:
346949
URI
Datum izdavanja:
26.2.2025.
Posjeta: 0 *