Targeted Therapy in Erdheim-Chester Disease: A Case Report and Review of the Literature.

Authors

• Ammar Alromdhan, Oakland University William Beaumont School of Medicine Medical Student
• Yagnapriya Ammakola, Corewell Health East Resident
• Gonzalo Cantu Soriano, Corewell Health East Resident
• Wasey Rehman, Oakland University William Beaumont School of Medicine Medical Student
• Joseph Fullmer, Corewell Health East/Oakland University William Beaumont School of Medicine
• Mohammad Chisti, Corewell Health East Oakland University William Beaumont School of Medicine

Document Type

Article

Publication Date

5-22-2026

Publication Title

Cureus

Abstract

Erdheim-Chester disease is a rare, aggressive non-Langerhans cell histiocytosis characterized by multisystem infiltration of histiocytes. It commonly affects middle-aged men and is driven by acquired mutations in the MAPK signaling pathway. This essential cellular pathway relays extracellular signals to the nucleus and regulates cell proliferation and survival. We report the case of a 39-year-old male who presented with progressive, severe left-sided frontal and temporal headaches. Imaging revealed a symptomatic craniocervical mass, a nonsecreting pituitary lesion, and bilateral perinephric soft tissue infiltration extending throughout the retroperitoneum. Histopathologic evaluation demonstrated foamy histiocytes consistent with Erdheim-Chester disease, and molecular testing identified a

Volume

18

Issue

5

First Page

109423

Last Page

109423

Recommended Citation

Alromdhan A, Ammakola Y, Cantu Soriano G, Rehman W, Fullmer J, Chisti M. Targeted Therapy in Erdheim-Chester Disease: A Case Report and Review of the Literature. Cureus. 2026 May 22;18(5):e109423. doi: 10.7759/cureus.109423. PMID: 42333372; PMCID: PMC13283345.

DOI

10.7759/cureus.109423

ISSN

2168-8184

PubMed ID

42333372