Erdheim chester disease presenting as bone pain with a lytic lesion: Case history and review of the literature

Abstract

Erdheim Chester Disease (ECD) is characterized by organ infiltration by CD68 positive and CD1a negative non-LangerhansHistiocytes. The presentation of ECD can vary from bone pain due to bone infiltration to multi-systemic forms involving thecardiovascular system. The prognosis of ECD is poor; however, with increased understanding of the pathogenesis, this has led tothe evolution of new therapeutic strategies.

Because of the increased need for understanding this disease we present a case of a man, who presented to us with bone painand radiographs showing a lytic lesion in his left femur. Upon further investigation with magnetic resonance (MR) imaging andtechnetium 99 m bone scan we chose to undergo an open biopsy, which led to the definitive diagnosis. We outline the currenttreatment regimen and its evolution as our understanding of the pathogenesis of ECD has increased.