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Updated: Mar 11, 2026

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia
Published on: October 19, 2014
[Langerhans cell histiocytosis and Erdheim-Chester disease, a continuity?]
S Parreau1, J Haroche2, I Pommepuy3
1Service d'endocrinologie, hôpital du Cluzeau, 23, avenue Dominique-Larrey, 87042 Limoges cedex, France.
Introduction:
Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described.
Observation:
A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation. The patient was treated with vemurafenib with a good clinical course.
Conclusion:
The literature review finds forty observations linking the two diseases that may suggest a pathophysiological link, especially with the hematopoietic myeloid stem cell CD34+. The term inflammatory myeloid neoplasm was advanced.
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