Asthma Allergy Immunology

Asthma Allergy Immunology

2022, Vol 20, Num, 1     (Pages: 064-067)

A Case with Netherton Syndrome- Classical Findings in Late Diagnosis

Emine VEZIR 1, Ezgi Günce NURAL KIRCI 2, Ayşegül ÖZCAN 3,

1 Department of Pediatric Allergy and Immunology, University of Health Sciences, Ankara Training and Research Hospital, Ankara, Turkey
2 Department of Pediatrics, University of Health Sciences, Ankara Training and Research Hospital, Ankara, Turkey
3 Department of Genetics, University of Health Sciences, Ankara Training and Research Hospital, Ankara, Turkey

DOI: 10.21911/aai.635
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Netherton syndrome is a rare disease with autosomal recessive inheritance and characterized by the triad of congenital ichthyosiform erytroderma, trichorrhexis invaginata, and atopic manifestations. We herein report a patient who presented to the pediatric allergy and clinical immunology outpatient clinic with signs of ichthyosis, multiple food allergy, anaphylaxis, hypereosinophilia, and hyperimmunoglobulinemia E (hyper-IgE), and was diagnosed as having Netherton syndrome.

Keywords : Anaphylaxis, hypereosinophilia, hyper-IgE, ichthyosis, multiple food allergy, netherton syndrome