Relevant Imaging Presentation of Erdheim-Chester Disease: A case-report

  • Philippe Jacob
Keywords: Erdheim-Chester Disease, Erdheim, Chester, Histiocytosis, BRAF, Vemurafenib


Erdheim-Chester disease (ECD) is a rare non-Langerhans multisystemic histiocytosis. This disorder is characterised by CD68+/CDa1- foamy histiocytes infiltration in tissues, especially bones, retroperitoneum, heart, lung and brain. Clinical manifestations may range from asymptomatic bone lesions to multiorganic symptoms. Bone pain in lower extremities are however the most common symptoms. Typical imaging findings include symmetric dyaphyseal osteosclerosis of long bones, periaortic sheathing (“coated aorta”) and retroperitoneal infiltration (“hairy kidney”). Lung and brain radiological abnormalities may also be seen on imaging screening. BRAF-V600E mutation is associated with around half of ECD patients. Vemurafenib, a mutated BRAF inhibitor, is a promising treatment for patients with this mutation. We present the case of a 60 years old man who arrived with a pathological right humerus fracture, and who was first admitted for a tuberculosis suspicion. ECD was first suspected with imaging screening.


Cives M, Simone V, Rizzo FM, et al. Erdheim–Chester disease: a systematic review. Critical reviews in oncology/hematology. 2015 Jul 31;95(1):1-1.

Haroche J, Arnaud L, Cohen-Aubart F, et al. Erdheim–Chester disease. Current rheumatology reports. 2014 Apr 1;16(4):412.

Hervier B, Haroche J, Arnaud L, et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAF V600E mutation. Blood. 2014 Aug 14;124(7):1119-26.

Antunes C, Graça B, Donato P. Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. Insights into imaging. 2014 Aug 1;5(4):473-82.

Cavalli G, Guglielmi B, Berti A, Campochiaro C, Sabbadini MG, Dagna L. The multifaceted clinical presentations and manifestations of Erdheim–Chester disease: comprehensive review of the literature and of 10 new cases. Annals of the rheumatic diseases. 2013 Feb 1:annrheumdis-2012.

Diamond EL, Dagna L, Hyman DM, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014 Jul 24;124(4):483-92.

Brun AL, Touitou-Gottenberg D, Haroche J, et al. Erdheim-Chester disease: CT findings of thoracic involvement. European radiology. 2010 Nov 1;20(11):2579-87.

Arnaud L, Pierre I, Beigelman‐Aubry C, et al. Pulmonary involvement in Erdheim‐Chester disease: A single‐center study of thirty‐four patients and a review of the literature. Arthritis & Rheumatology. 2010 Nov 1;62(11):3504-12.

Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012 Sep 27;120(13):2700-3.

Haroche J, Cohen-Aubart F, Emile JF, et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood. 2013 Feb 28;121(9):1495-500.

Haroche J, Cohen-Aubart F, Emile JF, et al. Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAFV600E-mutated Erdheim-Chester disease. Journal of Clinical Oncology. 2014 Nov 24;33(5):411-8.

Haroche J, Amoura Z, Trad SG, et al. Variability in the efficacy of interferon‐α in Erdheim‐Chester disease by patient and site of involvement: Results in eight patients. Arthritis & Rheumatology. 2006 Oct 1;54(10):3330-6.

Boussemart L, Routier E, Mateus C, et al. Prospective study of cutaneous side-effects associated with the BRAF inhibitor vemurafenib: a study of 42 patients. Annals of oncology. 2013 Feb 13;24(6):1691-7.

Mirouse A, Savey L, Domont F, et al. Systemic vasculitis associated with vemurafenib treatment: Case report and literature review. Medicine. 2016 Nov;95(46).

How to Cite
Jacob, P. (2018). Relevant Imaging Presentation of Erdheim-Chester Disease: A case-report. Canadian Journal of General Internal Medicine, 13(2).
Case Report