Rash and Non‐Infectious Systemic Inflammation in an Infant With Autosomal Dominant Anhidrotic Ectodermal Dysplasia With Immunodeficiency

ABSTRACT We present a child with autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (AD‐EDA‐ID) due to a pathogenic missense variant in NFKBIA presenting with atypical cutaneous manifestations. Our patient was born with a shiny ichthyotic rash on her extremities, developing into a pustulo‐vesicular and papulo‐vesicular rash. Skin biopsy showed interface vacuolar dermatitis. The rash improved with corticosteroids and resolved post‐haematopoietic stem cell transplant (HSCT). Clinicians should consider this diagnosis in treatment‐resistant eczematous/vesicular rashes in infancy, especially if systemic non‐infectious inflammation present.