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X lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of , encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohistiocytosis (HLH), and B-cell lymphomas. We report the case of a child affected with XLP1 who presented with an incomplete HLH, triggered by Epstein-Barr virus (EBV) and treated with rituximab, involving orbits and paranasal sinuses. The lesion was indistinguishable from lymphoma, complicating diagnosis and treatment. In addition, considering the high incidence of lymphoma in patients with XLP1, histology helped define its nature, driving therapeutic choices. We described an unusual presentation of incomplete HLH in a patient affected with XLP1: an EBV-driven infiltration of the orbits and paranasal sinuses. This led us to a challenging differential diagnosis of lymphoma-associated hemophagocytic syndrome, which can be frequently observed in patients with XLP1. Considering the extremely poor prognosis of this clinical finding, we sought for a prompt diagnosis and managed to obtain it and to immediately establish the right treatment on the basis of the pathological finding.

Abstract Objectives To assess the prevalence of Chlamydia psittaci, Chlamydia pneumoniae, and Chlamydia trachomatis in ocular adnexa lymphoma (OAL) determined by molecular testing in different countries and the potential association of Chlamydia infection with mucosa-associated lymphoid tissue (MALT) histotype by performing a systematic review and meta-analysis. Methods Electronic databases were searched for studies assessing the presence of Chlamydia in OAL. Pooled prevalence of the three Chlamydia species was calculated in each country. An odds ratio was calculated for the association between Chlamydia and MALT histotype, with a significant P < .05. Results Thirty-seven studies with 1,188 OALs were included. Pooled prevalence of C psittaci, C pneumoniae, and C trachomatis by country was done. Chlamydia infection was significantly associated with MALT histotype (odds ratio, 2.183; P = .027). Conclusions The involvement of C psittaci in OAL is highly variable, with the highest prevalence in Italy and Korea. Chlamydia is associated with MALT histotype.

Rhino-orbital mucormycosis is a rare, life-threatening opportunistic fungal infection, typically affecting immunocompromised patients. During the COVID-19 pandemic, increased cases were mainly linked to SARS-CoV-2 infection, diabetes, and corticosteroid exposure. We report a severe case in a previously healthy 44-year-old immunocompetent man who developed acute left-sided exophthalmos, ophthalmoplegia, severe visual loss, and systemic deterioration 10 days after AZD1222 COVID-19 vaccination. Clinical and radiologic findings suggested invasive rhino-orbital fungal disease, prompting immediate liposomal amphotericin B, broad-spectrum antibiotics, urgent endoscopic sinus surgery, and repeated orbital–sinonasal debridements with amphotericin B irrigation. Histopathological examination demonstrated broad aseptate hyphae with tissue necrosis, consistent with mucormycosis, while fungal culture and ITS sequencing identified Rhizopus arrhizus as the causative species. Therapy was later adjusted to include isavuconazole and antibacterial coverage for persistent inflammation and secondary colonization. Orbital and systemic improvement occurred within the first week, with globe preservation and marked proptosis reduction at 6 months, despite persistent ophthalmoplegia and residual light perception. Isavuconazole was continued for 2 years, with no recurrence during 3 years of follow-up. Although causality with vaccination cannot be established, the temporal association and biological plausibility warrant further investigation. Early suspicion and prompt combined medical–surgical management are essential in rapidly progressive orbital cellulitis.

Background/Aim. To evaluate the efficacy of methotrexate for the treatment of thyroid eye disease (TED). Methods. 36 consecutive patients with active TED, previously treated with corticosteroids but stopped due to the occurrence of side effects, were commenced on methotrexate therapy. Two different weekly doses were administered depending on the weight of the patient (7.5 mg or 10 mg). Clinical activity score (7-CAS), visual acuity (VA), ocular motility, exophthalmos, and eyelid position were retrospectively evaluated at 3, 6, and 12 months and compared with baseline data. Results. There was a statistically significant improvement in 7-CAS at 3, 6, and 12 months after treatment (P<0.0001). There was no significant change in visual acuity. Ocular motility disturbances improved at 6 and 12 months (P<0.001). There was no significant change in exophthalmos (mean 24 mm, SD 3 mm) or eyelid position (marginal reflex distance mean 6 mm, SD 1.5 mm) during the follow-up period. No side effects were registered. Conclusions. Methotrexate therapy is effective in reducing CAS and ocular motility disturbances. No significant improvement in proptosis or eyelid retraction should be expected from this treatment. Eventually, it might be considered a suitable alternative treatment in TED for patients who cannot tolerate steroids.

Objectives: To assess the prevalence of Chlamydia psittaci, Chlamydia pneumoniae, and Chlamydia trachomatis in ocular adnexa lymphoma (OAL) determined by molecular testing in different countries and the potential association of Chlamydia infection with mucosa-associated lymphoid tissue (MALT) histotype by performing a systematic review and meta-analysis. Methods: Electronic databases were searched for studies assessing the presence of Chlamydia in OAL. Pooled prevalence of the three Chlamydia species was calculated in each country. An odds ratio was calculated for the association between Chlamydia and MALT histotype, with a significant P < .05. Results: Thirty-seven studies with 1,188 OALs were included. Pooled prevalence of C psittaci, C pneumoniae, and C trachomatis by country was done. Chlamydia infection was significantly associated with MALT histotype (odds ratio, 2.183; P = .027). Conclusions: The involvement of C psittaci in OAL is highly variable, with the highest prevalence in Italy and Korea. Chlamydia is associated with MALT histotype.

Background: Biphenotypic sinonasal sarcoma (BSNS) is a low-grade tumor of the sinonasal tract with frequent extension to the orbit and skull base. Due to its rare incidence and recent histopathological and molecular characterization, little data are available in regard to its natural history, treatment and surveillance protocol. Methods: A comprehensive literature review in Embase online electronic databases on BSNS was made. The analyzed factors included the patients’ sex and age, presenting symptoms and signs, anatomical origin and pattern of growth of the tumor, immunohistochemical and molecular features, time to treatment, type of treatment, surgical approach, extent of resection, peri- and post-operative complications, adjuvant therapies, clinical outcome, recurrence and overall survival rates. Results: This literature review involved 34 studies for an overall series of 149 cases of BSNS. The female (66.9%) and middle-aged populations (median 54.88 years old) were mainly affected. The most frequent clinical onset was nasal obstruction (81%), followed by facial discomfort (44%), epistaxis (15.5%) and ocular impairment (14.3%). Ethmoid sinus (67.8%) and nasal cavity (45.4%) were the most common anatomical site of tumor origin, while an extension to the orbit and skull base was registered in 28.7% and 24.5% of cases. Surgery was the main treatment, especially in the form of endoscopic endonasal approach (56.9%), and allowed for gross total resection in 79% of cases. The recurrence rate was 26.2%; three cases of tumor-related death were reported. Median follow-up was 4.6 years. Conclusions: Biphenotypic sinonasal sarcoma is a rare and unique tumoral entity in terms of biological and clinical behavior. Based on the current knowledge, surgery plays the leading role in treatment, accounting for gross total tumor resection in most cases, allowing for clinical symptom and sign resolution and presenting a low rate of perioperative complications. The type of approach and the aim of surgery should be assessed case by case according to patient and pathology features and the surgeon’s experience, as well as the aim of the treatment. Further studies including large surgical series and with long follow-up are required to define prognostic factors and guidelines of treatment for this peculiar pathological entity.

Surgery stands as the primary treatment for spheno-orbital meningiomas, following a symptoms-oriented approach. We discussed the decision-making process behind surgical strategies through a review of medical records from 80 patients who underwent surgical resection at the University of Naples Federico II. Different surgical approaches were employed based on the tumor’s location relative to the optic nerve’s long axis, categorized into lateral (type I), medial (type II), and diffuse (type III). We examined clinical, neuroradiological, surgical, pathological, and outcome factors. Proptosis emerged as the most frequent symptom (97%), followed by visual impairment (59%) and ocular motility issues (35%). Type I represented 20%, type II 43%, and type III 17%. Growth primarily affected the optic canal (74%), superior orbital fissure (65%), anterior clinoid (60%), and orbital apex (59%). The resection outcomes varied, with Simpson grades I and II achieved in all type I cases, 67.5% of type II, and 18% of type III. Recurrence rates were highest in type II (41.8%) and type III (59%). Improvement was notable in proptosis (68%) and visual function (51%, predominantly type I). Surgery for spheno-orbital meningiomas should be tailored to each patient, considering individual characteristics and tumor features to improve quality of life by addressing primary symptoms like proptosis and visual deficits.

Background: Naso-ethmoidal schwannoma is a rare slow-growing tumor arising from the Schwann cells of the sinonasal tract. This study discusses the evolution of surgical approaches to naso-ethmoidal schwannomas with respect to tumor growth and recent advances in minimally invasive techniques. Materials and Methods: A comprehensive literature review on Embase online electronic database on benign naso-ethmoidal schwannoma was performed. Demographic, clinical, neuroradiological, pathological, and surgical factors were analyzed and discussed. Results: Twenty-five cases met the inclusion criteria. No predilection for gender was evident. The mean age at diagnosis was 40.2 years old. Nasal obstruction was the most common presenting symptom (64%), followed by headache (60%), hypo-anosmia (24%), and visual impairment (24%). Skull base and orbital involvement were registered in 64% and 16% of cases, respectively. Surgery is the unique curative treatment, with the endoscopic endonasal approach which plays the leading role (44%). Gross total resection was possible in all cases and was associated with no recurrence. The perioperative complication rate was 32% and mainly consisted of cerebrospinal fluid leakage. The mean time for treatment was 21 months. All patients were alive at last follow up. Conclusion: Surgery is the only curative treatment for naso-ethmoidal schwannomas, with the main goal to relief clinical manifestations. The endoscopic endonasal route represents the master approach for lesions confined to the midline. Transcranial and transorbital approaches play a complementary role when large intracranial extension and orbital involvement occur, respectively.

Eyelid retraction, cicatricial entropion, and deformities associated with facial nerve palsy are among the eyelid malpositions most detrimental to the ocular surface, as they cause exposure, tear film instability, inflammation, and potentially significant visual impairment. These conditions present major functional and esthetic challenges, underscoring the need for a clear understanding of their mechanisms and management. A narrative review was conducted using PubMed, MEDLINE, Embase, and Google Scholar to identify English and non-English studies (with English abstracts) addressing eyelid malpositions related to thyroid eye disease, cicatricial processes, and facial nerve palsy. Screening and cross-referencing yielded 115 relevant publications. Studies were excluded if they lacked clinical relevance, did not address the target disorders, involved animals, consisted of insufficient case reports, lacked an English abstract, or were non-peer-reviewed or duplicated. Extracted information included patient demographics, clinical presentations, diagnostic methods, treatments, complications, and outcomes. In thyroid eye disease, eyelid retraction results from adrenergic overstimulation, increased Müller muscle tone, and fibrosis involving the levator-superior rectus complex. Temporary improvement may be achieved with botulinum toxin, corticosteroids, or soft-tissue fillers, whereas sustained correction requires individualized surgical approaches. Cicatricial entropion arises from posterior lamellar contraction caused by inflammatory or iatrogenic injury and is best treated with lamellar repositioning or grafting procedures. In facial nerve palsy, incomplete blinking, punctal malposition, and lacrimal pump dysfunction contribute to tearing and ocular surface instability; management prioritizes corneal protection, eyelid rebalancing, and adjunctive measures such as botulinum toxin or physiotherapy. Across all conditions, tailored, multidisciplinary care is essential to maintain ocular surface integrity, restore eyelid function, and preserve quality of life.