Erdheim Chester disease with appendicular skeletal, renal and pleural involvement responding to Zelboraf (BRAF inhibitor) treatment: case report

Dariusz Borys, Lucas Nystrom, Albert Song, Laurie M. Lomasney

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Erdheim Chester disease is a rare non-Langerhans cell histiocytosis which may involve multiple organs including bone, soft tissue, lungs, cardiovascular system, kidneys (retroperitoneum), skin, and central nervous system. Bone involvement is most common followed by other organs. This case report describes a 58-year-old man who presented with progressive renal dysfunction presumed due to obstruction. The patient failed multiple urinary tract interventions, and clinical course was complicated by recurrent low-grade fevers, and bilateral knee pain. Advanced imaging and histopathological features on bone biopsy were consistent with Erdheim Chester disease. Molecular studies of tissue showed BRAF V600 mutation. This patient was treated with Zelboraf (vemurafenib) BRAF inhibitor with subsequent improvement in renal and pleural dysfunction as well as decreased histiocytic soft tissue masses on CT.

Original languageEnglish (US)
Pages (from-to)1397-1402
Number of pages6
JournalSkeletal Radiology
Volume45
Issue number10
DOIs
StatePublished - Oct 1 2016
Externally publishedYes

Keywords

  • Erdheim Chester disease
  • Histiocytosis
  • Nephropathy
  • Sclerotic bone lesions

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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