Erdheim-Chester disease (E-C D) is a rare clinicopathologic entity with nearly pathognomonic radiographic features. About half of the affected exhibit extraskeletal manifestations, including involvement of the hypothalamus-pituitary axis, lung, heart, retroperitoneum, skin, liver, kidneys, spleen and orbit. This disease usually affects individuals in their fifties to their seventies and has a male preponderance. The lesions of E-C D consist of lipid-storing CD68 (+) and CD1a (-) non-Langerhans cell histiocytes, either localized to the bone or involving multiple systems of the body as well. Skeletal involvement is characteristically bilateral and symmetric, exhibiting an osteosclerotic pattern in the metaphysis and diaphysis of the long bones, usually sparing epiphysis. We recently had a 68 years old male patient with E-C D, with a mild and persistent knee pain, who was subjected to a 3-phase technetium-99m methylene diphosphonate ((99m)Tc-MDP) bone-scan and subsequently to gallium-67 citrate ((67)Ga-C) whole body scan. The characteristic symmetric pattern of these scans raised the question of E-CD disease. The patient showed an excellent symptomatic response to high-dose steroids. However, the symptoms recurred after discontinuation of treatment.
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Turk Neurosurg
March 2024
SBÜ Gaziosmanpaşa Eğitim ve Araştırma Hastanesi.
Erdheim-Chester Disease is a rare systemic xanthogranulomatous infiltrating disease, characterized by lipid-laden histiocytes accumulating in various organs and almost always in bones. Etiology of the disease is still unknown. It may involve various organs and systems, such as musculoskeletal, cardiac, pulmonary, renal, gastrointestinal and central nervous system (CNS) as well as the skin.
View Article and Find Full Text PDFAm J Hematol
January 2025
Division of Rheumatology, Mayo Clinic, Rochester, Minnesota, USA.
Naunyn Schmiedebergs Arch Pharmacol
January 2025
Department of Pharmaceutical Technology, Shree S K Patel College of Pharmaceutical Education and Research, Ganpat University, 384012, Mahesana, Gujarat, India.
Erdheim-Chester disease (ECD) is a rare form of non-LCH characterized by excessive accumulation of histiocytes in various tissues, leading to significant morbidity. The estimated prevalence of ECD is low, with fewer than 1000 cases reported globally, yet it presents considerable clinical challenges due to its heterogeneous manifestations, which include bone pain, cardiovascular complications, and neurological symptoms. Traditional treatment approaches, primarily involving corticosteroids and chemotherapy, have limitations, including inconsistent responses and significant side effects.
View Article and Find Full Text PDFNeurol Neurochir Pol
January 2025
Department of Neurology, Medical College, Jagiellonian University, Krakow, Poland.
Rheumatology (Oxford)
January 2025
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
Objective: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that exhibits a wide spectrum of clinical manifestations. The recent identification of activating mutations in the MAPK-ERK pathway in patients with ECD has led to the introduction of targeted therapies. The most commonly used targeted therapies are BRAF- and MEK-inhibitors, which are highly effective but also carry significant toxicity.
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