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 and bamboo hair. A case study of a two-year-old girl initially misdiagnosed with atopic dermatitis highlights the importance of early genetic testing for accurate NS diagnosis. Despite using corticosteroids and emollients, the patient required biological therapy, specifically secukinumab, due to persistent symptoms. NS is often misdiagnosed due to symptom overlap with atopic dermatitis. Current treatments offer limited relief, but new therapies like secukinumab show promise in managing inflammation and improving skin barrier function. The condition significantly impacts quality of life, necessitating early genetic testing, targeted therapies, and psychosocial support. Future research should enhance genetic testing access, optimize therapies, and address psychosocial issues.