Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by mutations in the SPINK5 gene, characterized by congenital ichthyosis, trichorrhexis invaginata (bamboo hair), and severe atopy. NS disrupts skin barrier function and immune regulation, leading to significant clinical and immunological complications.
We report the case of a 7-month-old Saudi boy with NS, confirmed by genetic analysis revealing a homozygous splice site mutation in SPINK5 (c.1302+5G>C). Clinical features included generalized erythema, scaling, pruritus, and hallmark trichorrhexis invaginata. The patient experienced frequent cutaneous infections and elevated serum IgE levels. At the age of 18 months, he was started on intravenous immunoglobulin replacement therapy (IVIG) 500 mg/kg every 4 weeks due to frequent cutaneous infections, which required multiple antibiotics and hospital admissions. At six years of age, dupilumab (300 mg every 4 weeks) was added as an adjunct therapy to reduce skin inflammation and improve skin barrier function prior to food reintroduction. The patient demonstrated substantial clinical benefits, with marked relief from pruritus and chronic itching. Relieving the itch helped improve his sleep quality, playtime, focus, and overall quality of life. Additionally, the patient exhibited notable hair growth, with longer strands that resisted immediate breakage. Serologically, total serum IgE levels decreased from 1078 IU/mL to 55.8 IU/mL (reference range: 25–449.7 IU/mL) following dupilumab therapy. Additionally, food-specific IgE antibodies showed improvement.
NS is a complex disorder requiring a comprehensive approach to management. Comprehensive treatment strategies incorporating IVIG and dupilumab can significantly improve patient outcomes and quality of life.
