THE DIFFICULT MANAGEMENT OF THREE PATIENTS WITH NETHERTON SYNDROME

Publication date: November 2018

Source: Annals of Allergy, Asthma & Immunology, Volume 121, Issue 5, Supplement

Author(s): R. Saenz, M. Chen, A. Ahmed, Y. Gernez

Introduction

Netherton Syndrome (NS) is a rare congenital ichthyosis characterized by generalized scaling, erythema, and epidermal barrier defects due to homozygous defects in the SPINK5 gene that encodes for the serine protease inhibitor LEKT1. When mutated, the SPINK5 gene results in the breakdown and thinning of the stratum corneum. The ichthyosis of NS is difficult to manage, and we discuss the result of several systemic treatments attempted, including IVIG and dupilumab.

Case description

We describe three patients with NS, ranging in age from 9 months to 31 years. Infections among these three patients are common and range from recurrent skin infections and upper respiratory infections, to multi-organism bacteremia and sepsis complicated by metabolic acidosis, requiring ICU admission. Additionally, multiple food allergies were noted in one patient. Labs demonstrate a variety of immune abnormalities including mixed T and B cell lymphopenias, impaired cytotoxicity, intermittent eosinophilia, and significant elevations in IgE. Our genetic studies reveal several previously unidentified variants in SPINK5 that appear to cause clinical disease. Our three patients were started on IVIG. While prior studies demonstrated significant clinical improvement in patients on IVIG, only minimal to moderate subjective skin improvement was noted in two of the patients. In one patient, dupilumab was used in the context of increased IgE and eosinophilia, but to date has not proven useful.

Discussion

These cases provide insight into complexity of NS and challenge the existing theory that IVIG provides favorable outcomes. We suggest that new systemic/targeted therapeutics should be attempted for treatment of NS.

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