Autoinflammatory disease mimicking acute hemorrhagic edema of infancy

Abstract

The autoinflammatory diseases are a heterogeneous group of disorders characterized by early appearance of symptoms and characteristic flares of fever plus signs of internal inflammation, including various skin manifestations. We describe a 2.5-year-old boy who presented with fever, purpuric skin lesions, and edema, the classic clinical triad of acute hemorrhagic edema of infancy (AHEI). Although AHEI was our initial leading diagnosis, additional history revealed that these episodes were recurrent, and further investigation lead to a diagnosis of tumor necrosis factor receptor-associated periodic syndrome (TRAPS). This case report affirms the broad clinical spectrum of the autoinflammatory diseases and reinforces the importance of obtaining a thorough history of previous episodes of skin and extracutaneous inflammation in patients with a clinical diagnosis of AHEI.

Keywords: acute hemorrhagic edema of childhood; acute hemorrhagic edema of infancy; autoinflammatory diseases; leukocytoclastic vasculitis; purpura; tumor necrosis factor-associated periodic syndrome.