Abstract
BackgroundErdheim Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by widespread tissue infiltration by CD68-positive, CD1a-negative foamy histiocytes. ECD can be difficult to identify, and diagnosis relies on the presence of histiocytes with certain histologic and immunophenotypic features in an appropriate clinical and radiologic setting. Clinical signs and symptoms are variable depending on which organ systems are involved. Most patients have at least skeletal involvement with bone pain as well as fatigue. Other common manifestations include diabetes insipidus, cardiac, periaortic, or retro-orbital infiltration/fibrosis, kidney impairment, xanthelasmas, among others.Case presentationHerein, we describe a case of BRAF-mutation positive ECD in a patient with Burkitt lymphoma, and we review recent literature.ConclusionUnderlying BRAF and other MAPK pathway mutations are identified in approximately 50% of cases of ECD, which aids in diagnosis as well as enables novel targeted treatments. ECD patients have an increased risk of myeloid neoplasms; however, unlike other histiocytoses, an association with lymphoproliferative disorders has not been recognized.
Highlights
Erdheim Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by widespread tissue infiltration by CD68-positive, CD1a-negative foamy histiocytes
Underlying BRAF and other MAPK pathway mutations are identified in approximately 50% of cases of ECD, which aids in diagnosis as well as enables novel targeted treatments
Erdheim Chester disease (ECD) is a rare histiocytosis characterized by tissue infiltration by CD68-positive, CD1anegative foamy histiocytes [1,2,3,4]
Summary
The diagnosis of ECD can be difficult and relies on clinical, histologic, phenotypic, radiologic, and molecular correlation. Clinical presentation is variable depending on organ system involvement; in patients presenting with bone pain and diabetes insipidus, the possibility of ECD should be considered, and imaging studies and biopsy may be useful. ECD histology is nonspecific, but characterized by an accumulation of foamy histiocytes with Touton giant cells. Unlike LCH, the histiocytes in ECD are Factor XIIIa positive and CD1a and langerin negative. 50% of ECD will have an underlying BRAF V600E mutation; BRAF and MEK inhibitors are attractive therapeutic options. ECD patients have an increased association with LCH as well as myeloid neoplasms
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
