Severe Atypical Conjunctivitis: A Novel Ophthalmic Presentation of Erdheim-Chester Disease
4 affiliations
- 1Cornea Service, Ophthalmology Department, School of Medicine, CES University – CLOFAN Clinic - Medellin, Colombia
- 2Ophthalmology Department, School of Medicine, CES University - Medellin, Colombia
- 3Ophthalmic Pathology Service, Pathology Department, School of Medicine, University of Antioquia - Medellin, Colombia
- 4Oncology Service, Ophthalmology Department, School of Medicine, CES University – CLOFAN Clinic - Medellin, Colombia
Abstract
Objective: To describe an atypical ophthalmological presentation of Erdheim-Chester disease characterized by conjunctival involvement.
Methods: Interventional case report. A 27-year-old woman presented with severe bilateral atypical conjunctivitis associated with a rubbery subconjunctival nodule in the inferior fornix, which led to a histopathological diagnosis of Erdheim-Chester disease.
Results: We performed an excisional biopsy of a subconjunctival nodule. Histological analysis revealed an inflammatory infiltrate with a predominance of large histiocytes with large foamy cytoplasm, CD68+, CD163+, CD1a-, and S100-; confirming Erdheim-Chester disease.
Discussion: Ophthalmological involvement in Erdheim-Chester disease typically manifests as eyelid xanthelasmas and intraconal orbital masses; conjunctival involvement is rarely described. Our patient presented predominantly with severe bilateral refractory conjunctivitis, a yellowish subconjunctival nodule, and secondary corneal epithelial defects. Recognizing atypical conjunctival manifestations facilitates earlier diagnosis of this systemic disease. Multidisciplinary management with systemic polychemotherapy, surgical debridement, and topical 1% 5-fluorouracil achieved marked clinical improvement without relapse after 4 months.
Conclusion: Erdheim-Chester disease is rare and commonly involves the eyes. Although infrequently affected, the conjunctiva may present with subconjunctival nodules or atypical conjunctivitis. Ophthalmologists must remain vigilant for these presentations, as early recognition is crucial for timely diagnosis and appropriate management.
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BibTeX
@article{cordoba2026severe,
title = {{Severe Atypical Conjunctivitis: A Novel Ophthalmic Presentation of Erdheim-Chester Disease}},
author = {Andrea Córdoba and Javier Andres Díaz-Vargas and Juan Manuel Correa Alvarez and Pedro Jose Ramirez Wiesner and Camilo Restrepo-Perdomo and Mauricio Jaramillo and Miguel Cuevas},
journal = {Romanian Journal of Ophthalmology},
year = {2026},
month = nov,
doi = {10.22336/rjo.2026.65},
url = {https://doi.org/10.22336/rjo.2026.65},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Severe Atypical Conjunctivitis: A Novel Ophthalmic Presentation of Erdheim-Chester Disease
AU - Andrea Córdoba
AU - Javier Andres Díaz-Vargas
AU - Juan Manuel Correa Alvarez
AU - Pedro Jose Ramirez Wiesner
AU - Camilo Restrepo-Perdomo
AU - Mauricio Jaramillo
AU - Miguel Cuevas
PY - 2026
DA - 2026/11/09
JO - Romanian Journal of Ophthalmology
DO - 10.22336/rjo.2026.65
UR - https://doi.org/10.22336/rjo.2026.65
AB - Objective: To describe an atypical ophthalmological presentation of Erdheim-Chester disease characterized by conjunctival involvement. Methods: Interventional case report. A 27-year-old woman presented with severe bilateral atypical conjunctivitis associated with a rubbery subconjunctival nodule in the inferior fornix, which led to a histopathological diagnosis of Erdheim-Chester disease. Results: We performed an excisional biopsy of a subconjunctival nodule. Histological analysis revealed an inflammatory infiltrate with a predominance of large histiocytes with large foamy cytoplasm, CD68+, CD163+, CD1a-, and S100-; confirming Erdheim-Chester disease. Discussion: Ophthalmological involvement in Erdheim-Chester disease typically manifests as eyelid xanthelasmas and intraconal orbital masses; conjunctival involvement is rarely described. Our patient presented predominantly with severe bilateral refractory conjunctivitis, a yellowish subconjunctival nodule, and secondary corneal epithelial defects. Recognizing atypical conjunctival manifestations facilitates earlier diagnosis of this systemic disease. Multidisciplinary management with systemic polychemotherapy, surgical debridement, and topical 1% 5-fluorouracil achieved marked clinical improvement without relapse after 4 months. Conclusion: Erdheim-Chester disease is rare and commonly involves the eyes. Although infrequently affected, the conjunctiva may present with subconjunctival nodules or atypical conjunctivitis. Ophthalmologists must remain vigilant for these presentations, as early recognition is crucial for timely diagnosis and appropriate management.
SN - 2457-4325
SN - 2501-2533
ER -