Erdheim-Chester Disease: Pathological fracture of the left humerus
Keywords:
Erdheim-Chester, Fracture, Pathological, HistiocytosisAbstract
The Erdheim-Chester disease is a rare presentation of non-Langerhans cell histiocytosis. The etiology is unknown, and is more common in adults. The clinical manifestations are heterogeneous due to histiocytic infiltration of multiple systems. When there is skeletal involvement, it produces bone pain, and may be associated with interstitial, heart, liver, kidney or pulmonary infiltrates1-3. A case is presented on a patient who began with chronic bone pain and a pathological fracture of the left humerus with polyostotic involvement and with no evidence of multisystemic disease.
Author Biographies
Luis Gómez, Instituto Nacional de Cancerología
Grupo Ortopedia Oncológica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia
Universidad Militar Nueva Granada, Bogotá D.C., Colombia
Camilo Soto, Instituto Nacional de Cancerología
Grupo Ortopedia Oncológica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia
Universidad Militar Nueva Granada, Bogotá D.C., Colombia
Felipe Criollo, Instituto Nacional de Cancerología
Grupo Ortopedia Oncológica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia
Universidad Militar Nueva Granada, Bogotá D.C., Colombia
Óscar Messa, Instituto Nacional de Cancerología
Grupo de Patología Oncológica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia
Ricardo Romo, Fundación Universitaria San José
Posgrado de Ortopedia, Fundación Universitaria San José, Bogotá D.C., Colombia
Irene Patrón, Pontificia Universidad Javeriana
Posgrado de Ortopedia, Pontificia Universidad Javeriana, Bogotá D.C., Colombia
References
Bindra J, Lam A, Lamba R, Vanness M, Boutin RD. ErdheimChester disease: An unusual presentation of an uncommon disease. Skeletal Radiol;. 2013. DOI:10.1007/s00256-013-1793-2.
https://doi.org/10.1007/s00256-013-1793-2
Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet Journal of Rare Diseases. 2013;8(137):1-13.
https://doi.org/10.1186/1750-1172-8-137
Rivera TL, Irish RD, Hoda SA, Steiner GC. Erdheim-Chester Disease: Clinical Pathological Case Discussion. Bulletin of the Hospital for Joint Diseases. 2013;71(2):152-5.
Conrad EU. Orthopaedic Oncology: Diagnosis and Treatment: Initial Evaluations of Patients with Musculoskeletal Tumors. Thieme. 2009;1:3-5.
Ramos-Font C, Rebollo Aguirre AC, Moral Ruiz A, Bellón Guardia M, Cabello García D, Llamas-Elvira JM. Occult femoral neck fracture in a patient with Erdheim-Chester disease. Rev Esp Med Nucl. 2005;24(6):423.
https://doi.org/10.1016/S0212-6982(05)74190-2
Furutani K, Kurosawa Y, Kageyama T, Kaneko M. A case report of Erdheim-Chester disease. Nihon Igaku Hoshasen Gakkai Zasshi. 1996;56(9):681-3.
Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol. 2012;24:53-9.
https://doi.org/10.1097/BOR.0b013e32834d861d
Mazor RD, Kesler A, Shoenfeld Y. Erdheim-Chester Disease: An Orphan Condition Seeking Treatment. IMAJ. 2012;14:388-9.
Ota M, Sakamoto M, Sato K. Immunopathological Analysis of Erdheim-Chester Disease with Massive Ascites. Intern Med. 2012;51:2825-30.
Arnaud L, Gorochov G, Charlotte F, Lvovschi V, Parizot C. Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients. Blood. 2011;117(10):2783-90.
https://doi.org/10.1182/blood-2010-10-313510
Lee HJ, Kim TM. Reply to Commentary on ''A Case of Erdheim-Chester Disease with Asymptomatic Renal Involvement''. Cancer Res Treat. 2012;44(4):280.
https://doi.org/10.4143/crt.2012.44.4.280
Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias Rodzewicz Z, Hervier B, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other nonLangerhans cell histiocytoses. Blood. 2012;120(13):2700-3.
https://doi.org/10.1182/blood-2012-05-430140
Diamond EL, Pentsova E, Borsu L, Chiu AE, Hyman DM, Rosenblum M. Detection of the NRAS Q61R mutation in ErdheimChester disease. J Clinic Oncol. 2013;31 15 Supl:1.
Blombery P, Wong SQ, Lade S. Erdheim-Chester Disease Harboring the BRAF V600E Mutation. J Clinic Oncol. 2012;30(32):e331-2, doi: 10.1200/JCO.2012.43.2260.
https://doi.org/10.1200/JCO.2012.43.2260
Al-Quran S, Reith J, Bradley J, Rimsza L. Erdheim-Chester Disease: Case Report. PCR-Based Analysis of Clonality, and Review of Literature. Mod Pathol. 2002;15(6):666-72.
https://doi.org/10.1038/modpathol.3880583
Jaffe R, Julia A, Bridge, Pancras CW, Hogendoorn, Frederik Martens Christopher DM, Fletcher, editores. Erdheim-Chester disease. WHO Classification of Tumors of Soft Tissue and Bone. 4 th Ed. Lyon: s.n: IARC; 2013.
Asher I, Rabinovith I, Katz M, Sthoeger Z. Erdhiem-Chester Disease in a 49 Year Old Man. IMAJ. 2012;14(6):401.
Eyigör S, Kirazli Y, Memis A, Ba ̧sdemir G. Erdheim-Chester: The Effect of Bisphosponate treatment-A case report. Arch Phys Med Rehabil. 2005;86(5):1053-7.
https://doi.org/10.4414/bms.2005.11202
Braiteh F, Boxrud C, Esmaeli B, Kurzrock R. Successful treatment of Erdheim-Chester disease, a non- Langerhans-cell histiocytosis, with interferon- . Blood. 2005;106:2992-4.
https://doi.org/10.1182/blood-2005-06-2238
Arnaud L, Hervier B, Néel A, Hamidou MA, Kahn JE, Wechsler B, et al. CNS involvement and treatment with interferon are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117(10):2778-82.
Haroche J, Cohen-Aubart F, Emile JF, Arnaud L, Maksud P, Charlotte F, 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;121(9):1495-500.
How to Cite
Downloads
Downloads
Published
Issue
Section
License
Todos los derechos reservados.
Article metrics | |
---|---|
Abstract views | |
Galley vies | |
PDF Views | |
HTML views | |
Other views |