Haq M, Bukhari SMRUAN, Basit A, Ismail Q, Jabeen M. Erdheim-Chester disease presenting with multisystem involvement: A case report. World J Clin Cases 2026; 14(2): 115462 [DOI: 10.12998/wjcc.v14.i2.115462]
Corresponding Author of This Article
Majeed Haq, MD, Department of Medicine, Shaheed Suhrawardy Medical College and Hospital, Sher-e-Bangla Nagar, Dhaka 1207, Bangladesh. b0807621@gmail.com
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Medicine, General & Internal
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Case Report
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Jan 16, 2026 (publication date) through Jan 23, 2026
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World Journal of Clinical Cases
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Haq M, Bukhari SMRUAN, Basit A, Ismail Q, Jabeen M. Erdheim-Chester disease presenting with multisystem involvement: A case report. World J Clin Cases 2026; 14(2): 115462 [DOI: 10.12998/wjcc.v14.i2.115462]
World J Clin Cases. Jan 16, 2026; 14(2): 115462 Published online Jan 16, 2026. doi: 10.12998/wjcc.v14.i2.115462
Erdheim-Chester disease presenting with multisystem involvement: A case report
Majeed Haq, Syed Muhammad Rooh Ul Ain Naqi Bukhari, Abdul Basit, Qamar Ismail, Mehwish Jabeen
Majeed Haq, Department of Medicine, Shaheed Suhrawardy Medical College and Hospital, Dhaka 1207, Bangladesh
Syed Muhammad Rooh Ul Ain Naqi Bukhari, Department of Medicine, University of Health Sciences, Lahore 63100, Punjab, Pakistan
Abdul Basit, Department of Cardiology, King Edward Medical University, Lahore 54000, Punjab, Pakistan
Qamar Ismail, Mehwish Jabeen, Department of Medicine, King Edward Medical University, Lahore 54000, Punjab, Pakistan
Author contributions: Haq M proposed the study conception; Bukhari SMRUAN, Basit A reviewed literature and managed references and citations; Haq M, Bukhari SMRUAN, Basit A, Ismail Q and Jabeen M wrote and revised the manuscript.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that there is no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Majeed Haq, MD, Department of Medicine, Shaheed Suhrawardy Medical College and Hospital, Sher-e-Bangla Nagar, Dhaka 1207, Bangladesh. b0807621@gmail.com
Received: October 17, 2025 Revised: November 1, 2025 Accepted: January 6, 2026 Published online: January 16, 2026 Processing time: 91 Days and 10.9 Hours
Abstract
BACKGROUND
Erdheim-Chester disease (ECD) is an ultra-rare non-Langerhans cell histiocytosis driven by clonal proliferation of lipid-laden histiocytes. With fewer than a thousand documented cases globally, it remains largely unreported in South Asia.
CASE SUMMARY
A 46-year-old male presented with chronic leg pain, polyuria, and visual disturbances. Radiologic findings revealed symmetric osteosclerosis of long bones and absent pituitary shadow with thickened stalk of pituitary gland. Histopathology showed foamy histiocytes positive for CD68 and CD163 but negative for CD1a and Langerin. Detection of BRAF V600E mutation confirmed the diagnosis. The patient was treated with corticosteroids and interferon-alpha, with significant symptomatic improvement at six months.
CONCLUSION
This case represents the first case of ECD reported from Pakistan. Awareness of its distinct imaging and histologic patterns can facilitate diagnosis even in resource-limited settings. National rare disease registries and access to molecular diagnostics are essential for improving outcomes.
Core Tip: Erdheim-Chester disease, a rare non-Langerhans histiocytosis, can mimic pituitary and other systematic on imaging. Recognition of its characteristic radiologic and immunohistochemical profile enables timely diagnosis and treatment in low-resource settings.
