Beyond the diagnosis: Erdheim-Chester disease, a challenge for the internist

Authors

  • Silvia Ruiz-Abril Internal Medicine, Hospital Universitario de Salamanca, Salamanca, España https://orcid.org/0009-0008-6387-2806
  • Jacinto Herráez-García Internal Medicine, Hospital Universitario de Salamanca, Salamanca, España
  • José Ignacio Madruga-Martín Internal Medicine, Hospital Universitario de Salamanca, Salamanca, España https://orcid.org/0000-0002-0167-191X
  • Nora Gutiérrez-Sampedro Internal Medicine, Hospital Universitario de Salamanca, Salamanca, España https://orcid.org/0009-0006-7264-4931
  • Leticia Salcedo-Martín Internal Medicine, Hospital Universitario de Salamanca, Salamanca, España https://orcid.org/0009-0000-1034-2854

DOI:

https://doi.org/10.32818/reccmi.a8n2a3

Keywords:

Erdheim-Chester disease, non-Langerhans cell histiocytosis, immunohistochemistry, BRAF Oncogen

Abstract

Erdheim-Chester disease (ECD) is a rare proliferation from non-Langerhans cell histiocytosis. The behavior of this disease tends to have a systemic affectation in 50% of cases, that frequently affects bone, heart, lungs, kidneys, retroperitoneum, central nervous system and skin. We present a 74 years old patient with bone, retroorbital, neurological a myocardial affectation. The final diagnosis was supported by a second histological review, immunohistochemistry and genetic compatibility.

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References

Goyal G, Young JR, Koster MJ, Tobin WO, Vassallo R, Ryu JH, et al. Mayo Clinic Histiocytosis Working Group. The Mayo Clinic 1. Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients with Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease. Mayo Clin Proc. 2019; 94(10): 2054-2071. doi: https://doi.org/10.1016/j.mayocp.2019.02.023 (último acceso may. 2023).

Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, et al. Erdheim-Chester Disease: consensus recommendations for evaluation, diagnosis, and treatament in molecular era. Blood. 2020; 135(22): 1929-1318. doi:https://doi.org/10.1182/blood.2019002766 (último acceso may. 2023).

Fasulo S, Alkomos MF, Pjetergjoka R, Mekheal EM, Awasthi S, Chittamuri S, et al. Erdheim-Chester disease presenting at the central nervous system. Autops Case Rep. 2021; 11: e2021321. doi: https://doi.org/10.4322/acr.2021.321 (último acceso may. 2023).

Álvarez-Álvarez M, Macías-Casanova R, Fidalgo-Fernández M, Miramontes González JP. Neurological Involvement in Erdheim-Chester Disease. J Clin Neurol. 2016; 12(1): 115–116. doi: https://doi.org/10.3988/jcn.2016.12.1.115 (último acceso may. 2023).

Cruces Fuentes E, Parlorio De Andrés E, Girela Baena E, Olalla Muñoz JR, Solano Romero AP, Tovar Pérez M. Enfermedad de Erdheim-Chester: ¿Qué hallazgos radiológicos ayudan al diagnóstico? Seram. 2018. Accesible en: https://piper.espacio-seram.com/index.php/seram/article/view/1718 (último acceso may. 2023).

Antunes C, Graça B, Donato P. Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings.Insights Imaging. 2014; 5(4): 473–482. doi: https://doi.org/10.1007/s13244-014-0331-7 (último acceso may. 2023).

Rodríguez Trigueros A, López-Morales JR, Alarcón García JC, Rodríguez Suárez S, Sancho P, García-Morillo JS. Diagnosis delay, fenotypic variety, and therapeutic outcome of Erdheim-Chester disease. Span J Med. 2022; 2(4): 80-86. doi: https://doi.org/10.24875/SJMED.22000007 (último acceso may.2023).

Cohen Aubart F, Emile JF, Carrat F, Charlotte F, Benameur N, Donadieu J, Maksud P, et al. Targeted therapies in 54 patiens with Erdheim-Chester disease including follow up after interruption (the LOVE study). Blood. 2017; 130(11): 1377-1380. doi: https://doi.org/10.1182/blood-2017-03-771873 (último acceso may. 2023).

Published

2023-08-31

How to Cite

1.
Ruiz-Abril S, Herráez-García J, Madruga-Martín JI, Gutiérrez-Sampedro N, Salcedo-Martín L. Beyond the diagnosis: Erdheim-Chester disease, a challenge for the internist. Rev Esp Casos Clin Med Intern [Internet]. 2023 Aug. 31 [cited 2024 Dec. 22];8(2):66-70. Available from: https://www.reccmi.com/RECCMI/article/view/863