Erdheim-Chester disease with multisystemic involvement: a diagnostic challenge

Authors

  • Arpita Nishal Department of Pathology, Government Medical College, Surat, Gujarat, India
  • Komal Patel Department of Pathology, Government Medical College, Surat, Gujarat, India
  • Vasudha Bhagat Department of Pathology, Government Medical College, Surat, Gujarat, India
  • Siddhi Patel Department of Pathology, Government Medical College, Surat, Gujarat, India
  • Nency Gandhi Department of Pathology, Government Medical College, Surat, Gujarat, India
  • Sneha Patwari Department of Pathology, Government Medical College, Surat, Gujarat, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20194334

Keywords:

CD 68( ), CD1a(-), Erdheim-Chester disease, Multisystem involvement, Non-Langerhans cell histiocytosis, Pathological fracture, Sclerotic bone lesion

Abstract

Erdheim–Chester disease (ECD) is a rare, non-inherited, non- Langerhans form of histiocytosis of unknown origin, first described in 1930. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for CD68. Individuals affected by this disease are typically adults between their 4th and 6th decades of life. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen with aid of clinical and radiological data. Here we present a rare case of Erdheim-Chester disease in a 46 year male patient based on clinical data, radiological data, histopathological and immunohistochemistry findings.

References

Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte, Emile JF, et al. Erdheim–Chester Disease. Current Rheumatology Reports. 2014;16(4):412.

Sheu SY, Wenzel RR, Kersting C, Merten R, Otterbach F, Schmid KW. Erdheim-Chester disease: case report with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature. J Clin Pathol. 2004;57:1225-8.

Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis. 2013;137:1750-72.

Alotaibi S, Alhafi O, Nasr H, Eltayeb K, Elyamany G. Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature. Case Rep Oncol. 2017;10(2):501-7.

Adawi M, Bisharat B, Bowirrat A. Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. Medicine (Baltimore). 2016;95(42):5167.

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. Ann Rheum Dis. 2013;72(10):1691-5.

Alexiou J, Klastersky J. Erdheim-Chester Disease: A Case Report. Am J Case Rep. 2015;16:361-6.

Rozas Reyes P, Senaris Gonzales A. Gonzales Rodriguez CM: Orbit xanthogranulomatosis. Erdheim-Chester disease. Arch Soc Esp Oftalmol, 2004;79:515-8.

Dion E, Graef C, Haroche J, Cluzel P, Wechlser B, Greniar PA, et al. Imaging of thoracoabdominal involvement in Erdheim-Chester disease. Am J Roentgenol. 2004;183(5):1253-60.

Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, et al. Erdheim-Chester disease: clinical and radiologic characteristics of 59 cases. Medecine. 1996;75(3):157-69.

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Published

2019-09-25

How to Cite

Nishal, A., Patel, K., Bhagat, V., Patel, S., Gandhi, N., & Patwari, S. (2019). Erdheim-Chester disease with multisystemic involvement: a diagnostic challenge. International Journal of Research in Medical Sciences, 7(10), 3928–3931. https://doi.org/10.18203/2320-6012.ijrms20194334

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Section

Case Reports