Erdheim-Chester disease – case report

Czech version

Authors: Pilarčíková K. ¹; Sláviková K. ²; Plank L. ³; Puchertová M. ⁴; Babinec M. ¹; Barta T. ¹; M. Profant ¹
Authors‘ workplace: Klinika ORL, chirurgie hlavy a krku LF UK a UN Bratislava ¹; Rádiológia s. r. o., Bratislava ²; Ústav patologickej anatómie, JLF UK v Martine ³; Ústav patologickej anatómie, LF SZU, Bratislava ⁴
Published in: Otorinolaryngol Foniatr, 70, 2021, No. 3, pp. 177-180.
Category: Case Reports
doi: https://doi.org/10.48095/ccorl2021177

Overview

Erdheim-Chester disease (ECD) belongs to the malignant polyostotic sclerotic forms of non-Langerhans histiocytosis. During abnormal prolipheration of pathologic histiocytes (foam cells), involved structures become hypertrophic with increased density followed by scarring. Mostly the diaphysis and metaphysis of long bones of lower limbs with typical pain are involved. According to the WHO, the disease is classified as histiocytic neoplasia. We refer on a 74-year-old female patient with expansive process in the region of upper clivus and sphenoidal bone on the right side. Histological testing confirmed this very rare disease that affects about 600 patients over the world.

Keywords:

Erdheim-Chester – foamy histiocytes – sclerosis – fibrosis

Sources

1. Estrada-Veras JI, O‘Brien KJ, Boyd LC et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv 2017; 1 (6): 357–366. Doi: 10.1182/blood advances.2016001784.

2. Ozkaya N, Rosenblum MK, Durham BH et al. The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort. Mod Pathol 2018; 31 (4): 581–597. Doi: 10.1038/modpathol.2017. 160.

3. Munoz J, Janku F, Cohen PR et al. Erdheim-Chester disease: characteristics and management. Mayo Clin Proc 2014;.89 (7): 985–996. Doi: 10.1016/j.mayocp.2014.01.023.

4. Adam Z, Petrášová H, Řehák Z et al. Hodnocení pětileté léčby Erdheimovy-Chesterovy nemoci anakinrou – kazuistika a přehled literatury. Vnitř Lék 2016; 62 (10): 820–832.

5. Sedrak P, Ketonen L, Hou P et al. Erdheim-Chester disease of the central nervous system: new manifestations of a rare disease. AJNR Am J Neuroradiol 2011; 32 (11): 2126–2131. Doi: 10.3174/ajnr.A2707.

6. Haroche J, Charlotte F, Arnaud L et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood 2012; 120 (13): 2700–2703. Doi: 10.1182/blood- 2012-05-430140.

7. Diamond EL, Dagna L, Hyman DM et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood 2014; 124 (4): 483–492. Doi: 10.1182/blood-2014-03-561381.

8. Adam Z, Krejčí M, Vorlíček J et al. Přehled maligních hematologických nemocí, 2. dopln. a zcela přeprac. vyd. Praha: Grada 2008.

9. Becker MR, Gaiser T, Middel P et al. Clinicopathologic challenge. Destombes-Rosai-Dorfman disease (DRDD) (sinushistiocytosis with massive lymphadenopathy). Int J Dermatol 2008; 47 (2): 125–127. Doi: 10.1111/j.1365- 4632.2008.03376.x.

10. Razanamahery J, Diamond EL, Cohen-Aubart F et al. Erdheim-Chester disease with concomitant Rosai-Dorfman like lesions: a distinct entity mainly driven by MAP2K1. Haematologica 2020; 105 (1): e5–e8. Doi: 10.3324/haematol.2019.216937.

11. Adam Z, Řehák Z, Koukalová R et al. PET-CT dokumentovaná kompletní 4letá remise Erdheimovy-Chesterovy nemoci po léčbě kladribinem. Vnitř Lék 2014; 60 (5–6): 499–511.

12. Alfieri A, Gazzeri R, Galarza M et al. Surgical treatment of intracranial Erdheim-Chester disease. J Clin Neurosci 2010; 17 (12): 1489–1492. Doi: 10.1016/j.jocn.2010.03.062.

13. Mascalchi M, Nencini P, Nistri M et al. Failure of radiation therapy for brain involvement in Erdheim-Chester disease. J Neurooncol 2002; 59 (2): 169–172. Doi: 10.1023/a: 1019649201324.

14. Miller RC, Villa S, Kamer S et al. Palliative treatment of Erdheim-Chester disease with radiotherapy: a Rare Cancer Network study. Radiother Oncol 2006; 80 (3): 323–326. Doi: 10.1016/j.radonc.2006.07.034.

15. Arnaud L, Hervier B, Neel A et al. CNS involvement and treatment with interferon-alpha are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood 2011; 117 (10): 2778–2782. Doi: 10.1182/blood-2010-06-294108.