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Erdheim-Chester disease with bilateral Achilles tendon involvement

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Abstract

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with a broad spectrum of organ manifestations, presenting with characteristic radiological and histological findings. Soft tissue manifestations (xanthogranulomas) have been reported to be most commonly found in the region of the orbits. We report bilateral Achilles tendon xanthogramlomas in a 36-year-old male with biopsy-proven and B-RAF V600E-positive ECD. Although rare, ECD should be considered in the differential diagnosis of intratendinous masses.

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References

  1. Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, et al. Erdheim-Chester disease: a systematic review. Crit Rev Oncol Hematol. 2015;95(1):1–11. doi:10.1016/j.critrevonc.2015.02.004.

    Article  PubMed  Google Scholar 

  2. Fletcher CD, Unni KK, Mertens F. Pathology and genetics of tumours of soft tissue and bone. World Health Organization classification of tumours 2013.

  3. Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol. 2012;24(1):53–9.

    Article  PubMed  Google Scholar 

  4. Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester disease: a comprehensive review of the literature. Orphanet J Rare Dis. 2013;8(1):1.

    Article  Google Scholar 

  5. Cavalli G, Guglielmi B, Berti A, Campochiaro C, Sabbadini MG, Dagna L. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. Annals of the rheumatic diseases:annrheumdis-2012-202542 2013.

  6. Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124(4):483–92.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Haroche J, Amoura Z, Dion E, Wechsler B, Costedoat-Chalumeau N, Cacoub P, et al. Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review. Medicine. 2004;83(6):371–92.

    Article  PubMed  Google Scholar 

  8. Surabhi VR, Menias C, Prasad SR, Patel AH, Nagar A, Dalrymple NC. Neoplastic and non-neoplastic proliferative disorders of the perirenal space: cross-sectional imaging findings 1. Radiographics. 2008;28(4):1005–17.

    Article  PubMed  Google Scholar 

  9. Arnaud L, Hervier B, Néel A, Hamidou MA, Kahn J-E, Wechsler B, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117(10):2778–82.

    Article  CAS  PubMed  Google Scholar 

  10. Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, et al. Erdheim-Chester disease. Curr Rheumatol Rep. 2014;16(4):412. doi:10.1007/s11926-014-0412-0.

    Article  PubMed  Google Scholar 

  11. 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 non-Langerhans cell histiocytoses. Blood. 2012;120(13):2700–3.

    Article  CAS  PubMed  Google Scholar 

  12. Mabuchi H, Ito S, Haba T, Ueda K, Ueda R, Tatami R, et al. Discrimination of familial hypercholesterolemia and secondary hypercholesterolemia by Achilles’ tendon thickness. Atherosclerosis. 1977;28(1):61–7.

    Article  CAS  PubMed  Google Scholar 

  13. Teramoto T, Sasaki J, Ishibashi S, Birou S, Daida H, Dohi S, et al. Familial hypercholesterolemia. J Atheroscler Thromb. 2014;21(1):6–10.

    Article  PubMed  Google Scholar 

  14. Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014;9(1):179.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Keren Z, Falik-Zaccai T. Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease. Pediatr Endocrinol Rev: PER. 2009;7(1):6–11.

    PubMed  Google Scholar 

  16. Tsubakio-Yamamoto K, Nishida M, Nakagawa-Toyama Y, Masuda D, Ohama T, Yamashita S. Current therapy for patients with sitosterolemia-effect of ezetimibe on plant sterol metabolism. J Atheroscler Thromb. 2010;17(9):891–900.

    Article  CAS  PubMed  Google Scholar 

  17. Dagna L, Girlanda S, Langheim S, Rizzo N, Bozzolo EP, Sabbadini MG, et al. Erdheim–Chester disease: report on a case and new insights on its immunopathogenesis. Rheumatology. 2010;49(6):1203–6.

    Article  PubMed  Google Scholar 

  18. Hervier B, Haroche J, Arnaud L, Charlotte F, Donadieu J, Néel A, et al. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood. 2014;124(7):1119–26.

    Article  CAS  PubMed  Google Scholar 

  19. Fernandes EÁ, Santos EHS, Tucunduva TCDM, Ferrari AJL, Fernandes ADRC. Achilles tendon xanthoma imaging on ultrasound and magnetic resonance imaging. Rev Bras Reumatol (English Edition). 2015;55(3):313–6. doi:10.1016/j.rbre.2013.12.003.

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Diagnostic and Interventional Radiology, Klinikum rechts der Isar, Technische Universität München, Ismaninger Str. 22, D-81675, Munich, Germany

    Jonathan Nadjiri & Klaus Woertler

  2. Wilhelm Sander Bone and Soft Tissue Sarcoma Center, Klinikum rechts der Isar, Technische Universität München, Ismaninger Str. 22, D-81675, Munich, Germany

    Klaus Woertler, Katja Specht & Andreas Toepfer

  3. Institute of Pathology, Klinikum rechts der Isar, Technische Universität München, Ismaninger Str. 22, D-81675, Munich, Germany

    Katja Specht

  4. Department of Orthopedic Surgery, Klinikum rechts der Isar, Technische Universität München, Ismaninger Str. 22, D-81675, Munich, Germany

    Norbert Harrasser & Andreas Toepfer

Authors
  1. Jonathan Nadjiri
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  2. Klaus Woertler
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  3. Katja Specht
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  4. Norbert Harrasser
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  5. Andreas Toepfer
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Correspondence to Jonathan Nadjiri.

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Nadjiri, J., Woertler, K., Specht, K. et al. Erdheim-Chester disease with bilateral Achilles tendon involvement. Skeletal Radiol 45, 1437–1442 (2016). https://doi.org/10.1007/s00256-016-2447-y

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  • DOI: https://doi.org/10.1007/s00256-016-2447-y

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