Abstract

Pathogenic variants of ectodysplasin A (EDA) gene are responsible for the development of hypohidrotic ectodermal dysplasia (HED) and energy dysmetabolism. Patients with HED develop hyperthermia and dry skin owing to hypohidrosis. Influenza-associated encephalopathy (IAE) is characterized by developing impaired consciousness within a few days after influenza infection. A 4-year-old boy with HED demonstrated IAE. He experienced frequent episodes of fever and exhibited typical HED features such as sparse hair, hypohidrosis, and dry skin. He was diagnosed with IAE at the age of 19 months and showed severe psychomotor impairment after this diagnosis. Cytokine storm, status epilepticus, and significant hyperthermia deriving from HED during influenza virus infection were determined to have contributed to the development of IAE resulting in defective energy metabolism and neuronal damage. Cytokine storm and significant hyperthermia during the influenza virus infection might cause the development of IAE and enhance catabolism. Thermal control is essential for HED management. Therefore, controlling body temperature during the infectious viral state is essential.