Abstract
Purpose
Within the large umbrella of histiocytosis are a few similar yet heterogenous entities involving the orbit and periocular tissues with or without systemic infiltration, termed adult onset xanthogranuloma or orbital xanthogranuloma. Due to rarity of these conditions, different classifications in use, diverse clinical presentations and still unknown etiology, the aim of this paper was to provide an up-to-date literature review of the actual understanding of histiocytosis and its subgroups involving the orbit and periocular area, diagnostic strategies and therapeutic modalities.
Methods
We present a review of literature and small case series comprising four patients diagnosed and treated in the period from 2001 until 2023 in our hospital. Clinical files of 4 patients with adult-onset xanthogranulomatous disease of the orbit and ocular adnexa (AOXGD) were reviewed retrospectively. Clinical, laboratory, radiological, histopathological, and immunohistochemical findings were reexamined.
Results
Reviewing medical records of our patients with AOXGD, we found significant overlap between histiocytosis and different immune disorders. A broad workup should be considered in these patients as they can harbour severe immune disfunctions and hematologic disorders. Preferred treatment modality depends on a histopathologic type of AOXGD, clinical presentation and systemic involvement and should be conducted multidisciplinary.
Conclusion
The diagnosis is often delayed because of its rarity and diverse clinical findings. Development of molecular genetic tests, detection of BRAF V600E mutation and different types of kinase mutations, mutations in transcriptional regulatory genes as well as tyrosine kinase receptors have shed a new light on the etiopathogenesis and potential targeted treatment of histiocytosis.
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Data availability
No datasets were generated or analysed during the current study.
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Conceptualization, J.J.M., M.B.; methodology, J.J.M., M.B., K.M.; investigation, M.B., L.K.Š., J.P.J.; resources, A.J., M.B., J.J.M., I.P.; data curation, J.J.M., M.B., L.K.Š.; writing—original draft preparation, M.B., L.K.Š., I.P.; writing—review and editing, I.P., A.J., J.J.M., K.M., J.P.J.; visualization, A.J., L.K.Š.; supervision, J.J.M.; All authors have read and agreed to the published version of the manuscript.
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Mandić, J.J., Bakula, M., Šklebar, L.K. et al. Histiocytosis and adult-onset orbital xanthogranuloma in 2023: a review of the literature and mini case series. Int Ophthalmol 44, 301 (2024). https://doi.org/10.1007/s10792-024-03181-y
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DOI: https://doi.org/10.1007/s10792-024-03181-y