Journal of Investigative Medicine High Impact Case Reports (Apr 2020)

Erdheim-Chester Disease With Concurrent Lung Adenocarcinoma

  • Nadia Solomon MD,
  • Arne Landwehr MD,
  • Zerwa Farooq MD,
  • Garfield Gutzmore MD,
  • Horace Tang MD,
  • Sandeep Singh Tuli MD,
  • Vincent Rizzo MD

DOI
https://doi.org/10.1177/2324709620918101
Journal volume & issue
Vol. 8

Abstract

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Erdheim-Chester disease (ECD) is a rare type of blood cancer characterized by infiltration of the body tissues by pathologic histiocytes, leading to widespread inflammation and damage. Clinical presentations range widely, from asymptomatic infiltration of bone to multiple organ system damage and resultant dysfunction. This report describes a case of a patient with several unusual imaging findings that led to a differential diagnosis of ECD; however, a biopsy of a mediastinal mass suspected to be due to histiocyte infiltration instead revealed primary lung cancer. Ultimately, ECD could not be ruled out, and the patient was referred to dermatology for a superficial facial xanthelasma biopsy, results of which were consistent with ECD. Concurrent ECD and adenocarcinoma is highly unusual; this case demonstrates the importance of a thorough investigation and the consideration that not all findings may be attributable to a single disease process, even when the alternative is very unlikely.