Histiocytosis and adult-onset orbital xanthogranuloma in 2023: a review of the literature and mini case series.

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.

Count Ivan VIII Draskovic: a case of Graves' orbitopathy?

There is a possibility that Count Ivan VIII Draskovic (1740-1787), a member of one of the oldest and most famous Croatian noble families, had Graves' disease and suffered from a thyroid disorder. Our suspicions were aroused by certain data, including his personal history, his lifestyle, including use of tobacco and iodine, as well as stress, and, finally, two portraits. If he was affected by Graves' disease and orbitopathy, his poor health might have been a consequence of thyroid disease, which was further worsened by injury and tobacco use. Later spontaneous remission could have been induced by higher iodine intake and bed rest.

The levels of 12 cytokines and growth factors in tears: hyperthyreosis vs euthyreosis.

PURPOSE: Simultaneous analyses of the contents and ratios of 12 cytokines and growth factors in single samples of human tears were performed, and the results were compared between a group of healthy subjects and a group of patients with Graves' hyperthyreosis (GH) without thyroid-associated orbitopathy (TAO). METHODS: Determinations and concentration measurements of interleukins (IL-2, IL4, IL-6, IL-8, IL-10, IL-1α, and IL-1ß) interferon (IFN-γ), tumor necrosis factor (TNF-α), monocyte chemoattractant protein (MCP-1), vascular endothelial growth factor (VEGF), and epidermal growth factor (EGF) were performed with single tear samples from 21 patients with hyperthyreosis and 22 healthy subjects. The analyses were performed using a Randox microchip with an Evidence Biochip Array Analyzer. RESULTS: We found significant differences between the healthy donor group and the hyperthyreosis group in the levels of IL-6, IL-10, VEGF, IL-1α, and MCP-1. The concentration of IL-6 was considerably higher in the hyperthyreosis group, IL-10 was higher in the healthy donor group, and VEGF and MPC-1 were higher in the hyperthyreosis group. The IL-8 and IFN-γ levels were higher in the hyperthyreosis group. The ratios of all of the cytokines to anti-inflammatory IL-10 were significantly elevated in the hyperthyreosis group. CONCLUSION: There are clear differences in the levels of cytokines and growth factors in the tears of healthy subjects and patients with GH without TAO. Tear cytokine changes and related dysfunctional tear syndrome (DTS) could be an early sign of occult TAO in Graves' hyperthyreosis patients.

Superior Ophthalmic Vein Thrombosis with Complete Loss of Vision as a Complication of Autoimmune and Infective Conditions.

PURPOSE: To present our experience in the management of superior ophthalmic vein thrombosis (SOVT), which is a rare, but extremely serious condition if not recognized and managed promptly and appropriately. METHODS: Two patients with septic and aseptic SOVT are presented. Clinical characteristics, radiographic features, management techniques, and outcomes are described. RESULTS: In the first case thrombosis occurred as a complication of functional endoscopic sinus surgery. In the second case thrombosis occurred as a complication of untreated inflammatory bowel disease: ulcerative colitis. Both cases resulted with permanent unilateral blindness. CONCLUSION: SOVT is a rare entity. There are no guidelines, just recommendations for disease management. Based on our experience, broad-spectrum intravenous antibiotic, anticoagulation, and steroid therapy should be promptly introduced and if needed surgical intervention. SOVT can lead to devastating complications which include permanent loss of vision and in some cases a fatal outcome.

Progression of conjunctival primary acquired melanosis (PAM) to widely spreaded malignant melanoma.

Primary acquired melanosis (PAM) is an acquired pigmentation of the conjunctival epithelium, a preinvasive pigmented lesion. When it is associated with cellular atypia it can lead to the developement of melanoma. We report a case report of malignant melanoma of the conjuntiva, which arrised from the conjuntival PAM. The disease was too extensive for ocular conservation, therefore exenteration was performed. This case highlights the need for regular follow-up of patients with melanocytic lesions of the ocular adnexa, and particular attention to the surgical technique, and careful follow-up to detect further disease activity.