Year: 2026
Type: article
Study design: Case Report
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.
DOI: 10.22336/rjo.2026.65
Authors: Andrea Córdoba, Javier Andres Díaz-Vargas, Juan Manuel Correa Alvarez, Pedro Jose Ramirez Wiesner, Camilo Restrepo-Perdomo, Mauricio Jaramillo, Miguel Cuevas
Institutions: Universidad CES, Universidad de Antioquia
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W7225420862