"It was first described in 1930 as "lipid granulomatosis" by Jakob Erdheim (1874-1937), an Austrian pathologist, and William Chester (1903–1974), an American pathologist 9,12."
"It was first described in 1930 as "lipid granulomatosis" by Jakob Erdheim (1874-1937), an Austrian pathologist, and William Chester (1903–1974), an American pathologist 9,12."
"Erdheim-Chester Disease (ECD) is a rare multisystem histiocytosis that typically manifests in adults with localised or widespread disease 23."
"In contrast to Langerhans cell histiocytosis, S100, CD1a, and CD207 are usually negative 1,18. It is associated with BRAF V600E mutations 14-16,18."
"Corticosteroids, radiotherapy and chemotherapy have all been used, but with little effect, with some patients relentlessly progressing 1. In patients with BRAF V600-mutant Erdheim-Chester disease, BRAF inhibitors, such as vemurafenib, can be effective 15,16. In patients with wild-type BRAF, treatment with MEK inhibitors has been proposed 17. Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease."
"Corticosteroids, radiotherapy and chemotherapy have all been used, but with little effect, with some patients relentlessly progressing 1. In patients with BRAF V600-mutant Erdheim-Chester disease, BRAF inhibitors, such as vemurafenib, can be effective 15,16. In patients with wild-type BRAF, treatment with MEK inhibitors has been proposed 17. Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease."
"Corticosteroids, radiotherapy and chemotherapy have all been used, but with little effect, with some patients relentlessly progressing 1. In patients with BRAF V600-mutant Erdheim-Chester disease, BRAF inhibitors, such as vemurafenib, can be effective 15,16. In patients with wild-type BRAF, treatment with MEK inhibitors has been proposed 17. Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease."
"extramedullary haematopoiesis"
"Langerhans cell histiocytosis: usually has lytic lesions 17"
Expected headings
"Immunohistochemisty"
"Skeletal involvement"
"Visceral"
"Intracranial"
"Intracranial"
"Perinephric"
"Bone disease"
"Erdheim-Chester disease is rare but increasingly recognised; imaging findings often suggest the diagnosis. Only about 240 cases were reported globally by 2006, but now the number exceeds 1500 17. The typical age of presentation is the fifth to seventh decade, with a male-to-female ratio of 3:1; paediatric cases are exceptional 20."
"Erdheim-Chester disease is rare but increasingly recognised; imaging findings often suggest the diagnosis. Only about 240 cases were reported globally by 2006, but now the number exceeds 1500 17. The typical age of presentation is the fifth to seventh decade, with a male-to-female ratio of 3:1; paediatric cases are exceptional 20."
"retrobulbar masses that can cause proptosis and motility impairment 13,17; often bilateral and intraconal 17"
"Interferon-alpha (IFNα) and pegylated IFNα are now first-line therapy options for systemic, non-life-threatening Erdheim-Chester disease (ECD); however, there is a relatively high rate of toxicity with prolonged administration, including cytopaenias 24."
"heart, pericardium and aorta 2"
"Corticosteroids, radiotherapy and chemotherapy have all been used, but with little effect, with some patients relentlessly progressing 1. In patients with BRAF V600-mutant Erdheim-Chester disease, BRAF inhibitors, such as vemurafenib, can be effective 15,16. In patients with wild-type BRAF, treatment with MEK inhibitors has been proposed 17. Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease."
"Corticosteroids, radiotherapy and chemotherapy have all been used, but with little effect, with some patients relentlessly progressing 1. In patients with BRAF V600-mutant Erdheim-Chester disease, BRAF inhibitors, such as vemurafenib, can be effective 15,16. In patients with wild-type BRAF, treatment with MEK inhibitors has been proposed 17. Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease."
"The differential diagnosis for Erdheim-Chester disease depends heavily on location, although some entities are considered in most locations (e.g. lymphoma)."