Mixed Langerhans Cell Histiocytosis and Erdheim-Chester Disease in a Girl: A Rare and Puzzling Diagnosis

J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e375-e379. doi: 10.1097/MPH.0000000000001770.

Abstract

Objective: The objective of this study was to report the case of a girl diagnosed as suffering from multisystem, BRAF V600E-positive refractory Langerhans cell histiocytosis (LCH) and coexistent Erdheim-Chester disease (ECD) with perirenal, intracranial involvement and the dramatic response to clofarabine treatment.

Observations: Histiocytoses are rare diseases with a broad clinical spectrum. Recent evidence supports a molecular and clinical overlap between LCH and ECD, and mixed LCH/ECD is now a separate entity. However, only a few pediatric cases of mixed disease have been reported in the literature.

Conclusions: In a child with refractory, multisystem histiocytosis and atypical presentations, mixed LCH/ECD should be suspected in the differential diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Antimetabolites, Antineoplastic / therapeutic use
  • Child, Preschool
  • Clofarabine / therapeutic use
  • Erdheim-Chester Disease / complications
  • Erdheim-Chester Disease / diagnosis*
  • Erdheim-Chester Disease / drug therapy
  • Erdheim-Chester Disease / genetics
  • Female
  • Histiocytosis, Langerhans-Cell / complications
  • Histiocytosis, Langerhans-Cell / diagnosis*
  • Histiocytosis, Langerhans-Cell / drug therapy
  • Histiocytosis, Langerhans-Cell / genetics
  • Humans
  • Point Mutation
  • Proto-Oncogene Proteins B-raf / genetics

Substances

  • Antimetabolites, Antineoplastic
  • Clofarabine
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf