Erdheim-Chester disease: a rare non-Langerhans histiocytosis

BMJ Case Rep. 2021 Sep 29;14(9):e241143. doi: 10.1136/bcr-2020-241143.

Abstract

A 3-year-old girl was admitted to our hospital with diabetes insipidus and a left eye proptosis. During investigation of diabetes insipidus, an extensive osteolytic mass, involving skull base and maxillo-facial bones, was revealed. Biopsy exhibited dense infiltrate of foamy histiocytes, which were positive for CD68 and CD163 and negative for CD1a and S100 confirming histopathological diagnosis of Erdheim-Chester disease. Treatment with dabrafenib was initiated, with good response and no side effects.

Keywords: head and neck cancer; paediatric oncology.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child, Preschool
  • Erdheim-Chester Disease* / diagnosis
  • Erdheim-Chester Disease* / diagnostic imaging
  • Female
  • Humans