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Published on: February 17, 2022
[Use of targeting therapy in Erdheim-Chester disease: A case report with neurologic involvement]
P Berthe1, N Rouzic1, L Daelman2
1Service de médecine interne et maladies infectieuses, groupe hospitalier Bretagne-Sud, 5, avenue de Choiseul, 56322 Lorient, France.
Insights
Erdheim-Chester disease (ECD) is a rare histiocytic disorder. Early diagnosis and targeted therapy are crucial, though neurological involvement in ECD remains severe and life-threatening.
Area of Science:
- Histiocytosis
- Rare Diseases
- Oncology
Background:
- Erdheim-Chester disease (ECD) is a rare multisystemic disorder characterized by histiocyte infiltration.
- Clinical and radiological presentations of ECD are highly variable, posing diagnostic challenges.
Observation:
- A 71-year-old woman presented with neurological and cutaneous manifestations of ECD.
- Diagnosis was confirmed via skin biopsy, revealing the BRAFV600E mutation.
Findings:
- Targeted therapy against the RAS-RAF-ERK-MEK pathway improved cutaneous symptoms.
- Despite treatment, neurological manifestations were severe and ultimately led to patient death.
Implications:
- This case highlights the persistent diagnostic difficulties associated with Erdheim-Chester disease.
- The significant severity and poor prognosis of neurological involvement in ECD are underscored.
Introduction:
Erdheim-Chester disease (ECD) is a rare multisystemic disease characterised by an infiltration of various organs by CD68+ CD1a- histiocytes. The clinical and radiological presentation is very variable.
Case Report:
We report the case of a 71-year-old woman with ECD which was revealed by neurological and cutaneous manifestations. The diagnosis was confirmed by skin biopsy and the BRAFV600E mutation was identified in skin tissue, leading to the use of combined therapy targeting the RAS-RAF-ERK-MEK pathway. This therapy allowed an improvement of cutaneous manifestations but neurological manifestations lead to death, underlying their notable severity.
Conclusion:
Our case report shows the persistent diagnostic difficulty of the ECD and the particular gravity of neurologic involvement.
