Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments

Netherton syndrome (NS) is a rare genetic disorder caused by SPINK5 mutations, leading to skin barrier dysfunction and symptoms like ichthyosis, bamboo hair, and atopic diathesis. A case of a 2-year-old girl initially misdiagnosed with atopic dermatitis highlights the challenges in diagnosing NS. Despite treatments with corticosteroids and emollients, the patient experienced persistent symptoms, leading to the use of secukinumab, a biological therapy targeting IL-17A, which showed significant improvements. NS is often misdiagnosed due to symptom overlap with atopic dermatitis. Current treatments provide limited relief, but emerging therapies like IVIG, retinoids, and biologics show promise. The psychosocial impact of NS is significant, affecting quality of life. Early genetic testing, targeted therapies, and psychosocial support are crucial for managing NS, with future research needed to improve genetic testing accessibility and optimize therapies.