Case report identifies a novel IFIH1 mutation causing hyper-IgE syndrome with significant implications for diagnosis.
Erythroderma in the pediatric population is an uncommon yet challenging condition. The etiologies encompass a wide variety of illnesses, including seborrheic dermatitis, infections, inborn errors of immunity, ichthyosiform disorders and metabolic abnormalities. Hyper-immunoglobulin E syndrome (HIES) occurs due to various known genetic variants, e.g., STAT3 (signal transducer and activator of transcription-3), IL6R (Interleukin-6 receptor) deficiency and others, with an extensive list of features including erythroderma in childhood. Our case describes association of a possible novel mutation in IFIH1 (interferon-induced with helicase C domain 1) gene with HIES, which may aid in deciphering the complex nature of this disorder.
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Belgaumkar et al. (2026) studied this question.
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