Successful management of Netherton syndrome using IVIG and dupilumab: A case report

Abstract

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by pathogenic mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, leading to impaired skin barrier function and immune dysregulation. It is characterized by congenital ichthyosis, trichorrhexis invaginata, and severe atopy. Herein, we present the case of a young boy with NS, confirmed by genetic analysis revealing a homozygous splice site mutation in SPINK5 (c.1302+5G>C). The patient was treated with intravenous immunoglobulin due to frequent infections that required multiple hospital admissions. When he was 6 years old, dupilumab was added to reduce skin inflammation and improve skin barrier function before food reintroduction. He demonstrated substantial clinical benefits, with marked relief from pruritus resulting in better quality of life. Additionally, he exhibited notable hair growth. Serologically, total his serum IgE levels decreased from 1078 IU/mL to 55.8 IU/mL following dupilumab therapy. This case highlights the potential benefits of an integrated therapeutic approach in management of this challenging condition.

Keywords: IVIG; Netherton syndrome; SPINK5; bamboo hair; dupilumab; food allergy; trichorrhexis invaginata.

Fig 1

A, Generalized erythroderma at birth. B, Thick scaly plaques over the scalp with persistent erythema and sparse hair. C and D, Recurrent skin infections at age of 6 months. E, Resolution of erythema and scale with hair regrowth after 1 year of IVIG and food elimination. F, Significant resolution of skin lesions and reduction of itch after 5 years of IVIG and food elimination, along with 2 years of dupilumab therapy.