Erdheim‐Chester disease: A multisystem disease case illustration with rare manifestations and treatment challenges

Abstract

Erdheim-Chester disease is a rare multisystemic disease. A 50-year-old woman, presented with a recurrent pain and swelling of the left knee. Bone scintigraphy showed increased tracer uptake of peripheral skeleton. The computed tomography showed tissular infiltration in the retroperitoneum, around the vessels.Immunohistochemistry showed CD68 (+) and CD1a (−).

An Unusual Case of Erdheim Chester Disease (ECD) with Knee Pain: A Case Report

“…If interferon-α fails, imatinib mesylate has been suggested as a potential experimental alternative therapy by some reports [ 15 ]. Furthermore, treatment with a BRAF inhibitor has been considered to be a helpful therapy, as individuals with multisystemic and refractory ECD and BRAF V600E gene mutations have shown partial clinical responses following treatment with a BRAF inhibitor [ 9 , 16 ].…”

“…For knee pain and contracture, radiologic evaluation (simple radiography and magnetic resonance imaging (MRI)) of the knee joint was performed at another hospital, and the findings showed osteosclerotic lesions, which were thought to be bone metastases; therefore, the patient was referred to the hemato-oncology department of our hospital for cancer evaluation (Figure 1). treatment regimens, including some conventional medicines and, more recently, targeted therapies, have been tried [9].…”

“…There is no standardized treatment for ECD, but treatment has progressed dramatically because of a better understanding of the molecular aspects of ECD. Various treatment regimens, including some conventional medicines and, more recently, targeted therapies, have been tried [ 9 ].…”