Erdheim-chester disease: Case report with testes involvement and review of literature

Erdheim-Chester Disease in a 48-Year-Old Woman With “an Unknown Tumor of the Heart”: An Autopsy Report

“…Studies have demonstrated BRAF V600E mutation in up to 70% of cases, and it seems that BRAF and/or other signaling molecules drive the proliferation process. [7][8][9] Since the disease was first described in 1930 by Jakob Erdheim and William Chester, nearly 1000 cases have been reported, 3 and approximately 400 of these in the last 5 years. 10 Erdheim-Chester disease can involve all organ systems and is considered a severe multisystem disease with life-threatening manifestations, but has also been described as asymptomatic in some patients.…”

“…Erdheim-Chester disease is associated with mutations of kinase signaling pathways, for example, BRAF, NRAS, and KRAS 2 . Erdheim-Chester disease can involve all organ systems, for example, lungs and heart, and is considered a potentially severe multisystemic disease with life-threatening manifestations due to the compression of normal structures 3 . Until recently, no evidence-based clinical guidelines that address treatment of ECD have existed.…”

Erdheim-Chester Disease in a 48-Year Old Woman with “An Unknown Tumour of the Heart:” An Autopsy Report.

“…ECD can involve all organ systems e.g. lungs and heart, and is considered a potentially severe multi-systemic disease with life-threatening manifestations due to the compression of normal structures (3). Currently there are no evidence-based clinical guidelines that address treatment of ECD.…”