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

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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 Jul. 5];8(2):66-70. Available from: https://www.reccmi.com/RECCMI/article/view/863