Latha K. Abraham, Mobin Paul, Marian Pauly, L. T, Neetha John
2026.5.19Orbit
Abstract
We report the first documented case of isolated episcleral ALK-positive histiocytosis (ALK+H) in an adult. A 36-year-old woman presented with an episcleral nodule clinically mimicking nodular scleritis. Excisional biopsy revealed sheets of foamy CD68+/CD163+ histiocytes with Touton-type giant cells. Immunohistochemistry demonstrated strong cytoplasmic ALK1 expression with negative CD1a and BRAF V600E, and fluorescence in situ hybridization confirmed ALK gene rearrangement in 60% of nuclei. Whole-body PET-CT identified a suspicious inguinal node, subsequently proven reactive on biopsy. Following excision, symptomatic local recurrence developed within 3 months, confirmed by orbital MRI. Alectinib 600 mg twice daily was commenced, with symptomatic improvement after 2 months. This case expands the anatomic spectrum of ALK+H to the ocular surface, highlighting that routine ALK1 screening of atypical histiocytic infiltrates is essential for accurate diagnosis and access to targeted therapy.
Citation format
ABRAHAM, Latha K., et al. Localized episcleral ALK-positive histiocytosis: A novel adult presentation confirmed by ALK gene rearrangement. Orbit, 2026: 1–4.