[3] Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles.

[5] A review of 59 case studies by Veyssier-Belot et al. in 1996 reported the following symptoms in order of frequency of occurrence:[6] Radiologic osteosclerosis and histology are the main diagnostic features.

The presence of symmetrical cerebellar and pontine signal changes on T2-weighted images seem to be typical of ECD, however, multiple sclerosis and metabolic diseases must also be considered in the differential diagnosis.

Unlike LCH, ECD does not stain positive for S-100 proteins or Group 1 CD1a glycoproteins, and electron microscopy of cell cytoplasm does not disclose Birbeck granules.

It would appear that approximately half these patients harbor point mutations of the BRAF gene at codon 600 substituting the amino acid glutamine for valine.

[19] The Erdheim–Chester Disease Global Alliance is a support and advocacy group with the goal of raising awareness of and promoting research into ECD.

[20][21] ECD families and patients are also supported by the Histiocytosis Association, Inc.[21][22] In the TV show House, season 2 episode 17, "All In", the initial and final diagnosis of a 6-year-old boy who presents with bloody diarrhea and ataxia is Erdheim–Chester disease.