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Category: Volume 07 Issue 09 September 2019
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Title: Erdheim-Chester Disease with Involvement of Axial Skeleton: A Rare Presentation of Rare Disease

Authors: Kumar Arvind, Verma Anil Kumar, Mishra Jyoti, Patel Mili, Deshmukh Geeta

 DOI: https://dx.doi.org/10.18535/jmscr/v7i9.60

Abstract

    

Erdheim-Chester disease (ECD) is a non-Langerhans cell systemic histiocytosis with an unknown etiology and pathogenesis. In this illness there is generalized sclerosis of the long bones that does not involve the epiphysis and axial skeleton. The extraskeletal sites may also be involved such as the retroperitoneal space, lungs, kidneys, brain, retro-orbital space, and heart .Here we report a case of 45 year old who presented with a chief complaint of back pain for 6 months duration. It was gradually increasing in intensity. On physical examination there was tenderness on palpation of the spinous process of thoracic vertebrae. He was diagnosed as Erdheim-Chester disease (ECD) on the basis of clinical , radiological and histopathological features followed by immunohistochemistry confirmation. Histologically, it shows diffuse inflammatory infiltrate comprising of lymphocytic aggregates with large foamy histiocytes, few Touton-like giant cells along with fibrosis. The histiocytes show positivity for CD68 and negativity for CD1a, S100 protein, langerin which differentiates it from Langerhans cell histiocytosis. Currently there is no effective therapy for this illness.

Keywords: Non-Langerhans cell systemic histiocytosis , Foamy histiocytes.

References

  1. Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, Piette JC: Variability in the efficacy of interferon-alpha in Erdheim-Chester diseaseby patient and site of involvement: results in eight patients. ArthritisRheum 2006; 54:333-6.
  2. Allen TC, Chevez-Barrios P, Shetlar DJ, Cagle PT: Pulmonary and ophthalmic involvement with Erdheim-Chester disease: a case report and review of the literature. Arch Pathol Lab Med 2004; 128:1428-31.
  3. Volpicelli ER, Doyle L, Annes JP, Murray MF, Jacobsen E, Murphy GF, Saavedra AP: Erdheim-Chester disease presenting with cutaneous involvement: a case report and literature review. J Cutan Pathol 2011; 38:280-5.
  4. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, Wallaert B, Petit H, Grimaldi A, Wechsler B, Godeau P: Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine 1996; 75:157-9.
  5. Drier A, Haroche J, Savatovsky J, Godeneche G, Dormont D, Chiras J,Amoura Z, Bonneville F: Cerebral, facial, and orbital involvement inErdheim-Chester disease: CT and MR imaging findings. Radiology 2010; 255:586-94.
  6. Mascalchi M, Nencini P, Nistri M, Sarti C, Santoni R: Failure of radiation therapy for brain involvement in Erdheim Chester disease. J Neurooncol 2002; 59:169-72.
  7. Kenn W, Eck M, Allolio B, Jakob F, Illg A, Marx A, Konradmuellerhermelink H,Hahn D: Erdheim-Chester disease: Evidence for a disease entity different from langerhans cell histiocytosis? Three cases with detailed radiological and immunohistochemical analysis. Hum Pathol 2000; 31:734-9.
  8. De Filippo M, Ingegnoli A, Carloni A, Verardo E, Sverzellati N, Onniboni M,Corsi A, Tomassetti S, Mazzei M, Volterrani L, et al: Erdheim-Chester disease: clinical and radiological findings. Radiol Med 2009;114:1319-29.
  9. Sanchez JE, Mora C, Macia M, Navarro JF: Erdheim-Chester disease as cause of end-stage renal failure: a case report and review of the literature. Int Urol Nephrol 2010;42: 1107-12.
  10. Arnaud L, Pierre I, Beigelman-Aubry C, Capron F, Brun AL, Rigolet A, Girerd X, Weber N, Piette JC, Grenier PA, et al: Pulmonary involvement in Erdheim-Chester disease: a single-center study of thirty-four patients and a review of the literature. Arthritis Rheum 2010; 62:3504-12.
  11. Balink H, Hemmelder MH, de Graaf W, Grond J: Scintigraphic diagnosis of Erdheim-Chester disease. J Clin Oncol 2011; 29:e470-2.
  12. A Unique case of Erdheim-Chester Disease with Axial Skeleton, Lymph Node, and bone marrow involvement. Lim J, Kim K.H., Suh K.J., Yoh K.A, Jin Young Moon, Ji Eun Kim, Eun Youn Roh, In Sil Choi, Jin-Soo Kim, and Jin  Park Cancer Res Treat. 2016 Jan; 48(1): 415-21.
  13. Wang J, Wu X, Xi ZJ: Langerhans cell histiocytosis of bone in children: clinicopathologic study of 108 cases. World J Pediatr 2010, 6:255-9.

Corresponding Author

Verma Anil Kumar

Senior Resident, Department of transfusion medicine & blood bank, All India Institute of Medical Sciences, Raipur