Evolving neonatal rash and other clues: A dermatology perspective on early diagnosis of hyper-immunoglobulin E syndrome

A one-month-old male presented with papulovesicular lesions over the head and neck from 3 weeks of age, which later extended to the flexures, along with the appearance of clear acral vesicles. In the following months, evolving features, namely, worsening of the head and flexural rash, staphylococcal cold abscess, oral and intertriginous candidiasis, facial dysmorphism, and eosinophilia, led to the diagnosis of autosomal dominant hyper-IgE syndrome (AD-HIES) at 4 months of age. On retrospective review, the initial rash, associated non-specific leukocytosis, and subtle facial dysmorphism were recognized as early markers of the disease. The diagnosis of AD-HIES is often delayed because classical features of the disease are absent or subtle in early life. This delay contributes to increased morbidity and mortality in these patients. This report emphasizes the significance of early skin lesions of AD-HIES, which present as papular lesions of the head, neck, and flexures in neonates and infants, and demonstrate eosinophilic spongiosis in histology. These lesions precede all other manifestations of the disease and are a valuable clue to early diagnosis. Dermatologists can play a major role by recognizing these lesions and differentiating them from conditions with similar morphology, such as seborrheic dermatitis and Langerhans cell histiocytosis. We also report the additional finding of clear acral vesicles in infancy, which has not been previously reported in association with this syndrome.