Isolated cavernous venous malformation of the eyelid.

Cavernous hemangioma, currently known as "cavernous venous malformation," is a common, benign, non-infiltrative, slowly progressive vascular malformation of the orbit presenting in adults. We report the case of a 9-year-old girl who presented with a painless palpable mass over the right upper eyelid of 7 years' duration. A computed tomography scan of the orbits revealed a heterogeneously enhancing, well-circumscribed mass in the right upper eyelid with no orbital extension. A transcutaneous excisional biopsy with histopathology disclosed cavernous venous malformation. The majority of cavernous venous malformations are intraconal and present in the fourth to fifth decade of life.

Primary intraorbital inflammatory lumpy lesion: A rare case report.

RATIONALE: Eosinophilic angiocentric fibrosis (EAF) is considered to be a kind of benign IgG4-related disease, and it is more often found in the nasal cavity. We present a pretty rare case of orbital EAF that is unlike any other reported case for this case is an IgG4 negative orbital EAF and successfully treated by the fronto orbitozygomatic approach surgery. PATIENT CONCERNS: This is a 68-year-old man from a rural area of Inner Mongolia Autonomous Region, went to our hospital for a 2-month history of vision loss with a local hospital orbital computer tomography which showed that there was a lesion in his left orbit. The inspection of the patient revealed that the patient left eye was protruding outward and the left eyelid unable to complete open or close. And his left eyeball movement had difficulty in all directions. Postoperative pathology diagnosed that this was a case of IgG4-negative EAF case. DIAGNOSES: Orbital EAF. INTERVENTIONS: Surgical radical resection and postoperative glucocorticoid therapy. OUTCOMES: After surgery, the left eye vision of this patient increased to 0.6 tested in the standard logarithmic visual acuity chart. And his left eyeball movement dysfunction and eyeball outward protruding get a partially relief. LESSONS: EAF occurring in the orbit is a very rare disease and immunohistochemical results of EAF can be IgG4 negative.

EZH2 as a major histone methyltransferase in PDGF-BB-activated orbital fibroblast in the pathogenesis of Graves' ophthalmopathy.

Graves' ophthalmopathy (GO) is an extra-thyroidal complication of Graves' disease which can lead to vision loss in severe cases. Currently, treatments of GO are not sufficiently effective, so novel therapeutic strategies are needed. As platelet-derived growth factor (PDGF)-BB induces several effector mechanisms in GO orbital fibroblasts including cytokine production and myofibroblast activation, this study aims to investigate the roles of histone lysine methyltransferases (HKMTs) in PDGF-BB-activated GO orbital fibroblasts by screening with HKMTs inhibitors library. From the total of twelve selective HKMT inhibitors in the library, EZH2, G9a and DOT1L inhibitors, DZNeP, BIX01294 and Pinometostat, respectively, prevented PDGF-BB-induced proliferation and hyaluronan production by GO orbital fibroblasts. However, only EZH2 inhibitor, DZNeP, significantly blocked pro-inflammatory cytokine production. For the HKMTs expression in GO orbital fibroblasts, PDGF-BB significantly and time-dependently induced EZH2, G9a and DOT1L mRNA expression. To confirm the role of EZH2 in PDGF-BB-induced orbital fibroblast activation, EZH2 silencing experiments revealed suppression of PDGF-BB-induced collagen type I and α-SMA expression along with decreasing histone H3 lysine 27 trimethylation (H3K27me3) level. In a more clinically relevant model than orbital fibroblast culture experiments, DZNeP treated GO orbital tissues significantly reduced pro-inflammatory cytokine production while slightly reduced ACTA2 mRNA expression. Our data is the first to demonstrate that among all HKMTs EZH2 dominantly involved in the expression of myofibroblast markers in PDGF-BB-activated orbital fibroblast from GO presumably via H3K27me3. Thus, EZH2 may represent a novel therapeutics target for GO.

Biological identity of orbital cavernous venous malformations.

Vascular anomalies comprise a wide spectrum of clinical manifestations related to disturbances in the blood or lymph vessels. They correspond to mainly tumors (especially hemangiomas), characterized by high mitotic activity and proliferation of the vascular endothelium, and malformations, endowed with normal mitotic activity and no hypercellularity or changes in the rate of cell turnover. However, the classifications of these lesions go beyond this dichotomy and consist various systems adapted for and by different clinical subgroups. Thus, the classifications have not reached a consensus and have historically caused confusion regarding the nomenclatures and definitions. Cavernous venous malformations of the orbit, previously called cavernous hemangiomas, are the most common benign vascular orbital lesions in adults. Herein, we have compiled and discussed the various evidences, including clinical, radiological, morphological, and molecular evidence that indicate the non-neoplastic nature of these lesions.

Differential diagnosis of thyroid orbitopathy - diseases mimicking the presentation or activity of thyroid orbitopathy.

Thyroid orbitopathy (TO) is the most common cause of orbital tissue inflammation, accounting for about 60% of all orbital inflammations. The inflammatory activity and severity of TO should be diagnosed based on personal experience and according to standard diagnostic criteria. Magnetic resonance imaging (MRI) of the orbit is used not only to identify swelling and to differentiate inflammatory active from non-active TO, but also to exclude other pathologies, such as orbital tumours or vascular lesions. However, a group of diseases can mimic the clinical manifestations of TO, leading to serious diagnostic difficulties, especially when the patient has previously been diagnosed with a thyroid disorder. Diagnostic problems can be presented by cases of unilateral TO, unilateral or bilateral TO in patients with no previous or concomitant symptoms of thyroid disorders, lack of symptoms of eyelid retraction, divergent strabismus, diplopia as the only symptom of the disease, and history of increasing diplopia at the end of the day. The lack of visible efficacy of ongoing immunosuppressive treatment should also raise caution and lead to a differential diagnosis of TO. Differential diagnosis of TO and evaluation of its activity includes conditions leading to redness and/or swelling of the conjunctiva and/or eyelids, and other causes of ocular motility disorders and eye-setting disorders. In this paper, the authors review the most common diseases that can mimic TO or falsify the assessment of inflammatory activity of TO.

Rare case of p16-positive oropharyngeal cancer metastasis to the orbit.

We describe a case of a man in his 70s who was diagnosed with a p16-positive base of tongue squamous cell carcinoma (SCC) and presented with deteriorating vision and exophthalmos. Imaging revealed medial rectus hypertrophy, and surgery confirmed metastatic p16-positive SCC. Literature reveals that orbital metastasis from any malignancy is a rare occurrence, and even that of p16-positive oropharyngeal SCC has only been reported once in English literature previously. The case highlights the importance of maintaining a wide differential and not being narrowed into a diagnosis or treatment, and given the increasing incidence of human papillomavirus-related cancers, it is important to preserve a high index of suspicion.

A Rapidly Expanding Hemorrhagic BRAF-Mutant Orbital Atypical Glomus Tumor.

A healthy 32-year-old woman presented with the acute onset of left sided eye pain, upper eyelid fullness, and binocular diplopia during light weightlifting. Examination elevated intraocular pressure, proptosis, upper eyelid ptosis, and motility deficits. CT demonstrated a well-circumscribed, homogeneous-appearing extraconal mass in the superior left orbit. The patient underwent an urgent orbitotomy with the excision of a hemorrhagic mass. Histopathology showed a glomus tumor with atypical features and hemorrhagic infarction, best classified as having uncertain malignant potential. A B-Raf proto-oncogene V600E mutation was detected with immunohistochemistry, which suggests a more aggressive tumor behavior yet presents an opportunity for targeted primary or adjunctive therapy. This is the first reported case of a B-Raf proto-oncogene-mutant atypical glomus tumor arising in the orbit.

Solitary Fibrous Tumours of the Orbit - Clinical Pathology, Therapy and Prognosis. / Solitär fibröse Tumoren der Orbita ­ klinisch-pathologische Charakteristik, Therapie und Prognose.

BACKGROUND: Solitary fibrous tumours are rare. The aim of this study is to describe the clinical features, therapy and outcome of affected patients and to identify factors associated with recurrence. METHODS: Retrospective study of a cohort of 20 patients who underwent surgery for orbital solitary fibrous tumour at the University Department of Oral and Maxillofacial Surgery between 2002 and 2023. Demographic, clinical, and therapeutic data as well as tumour follow-up results were collected. Tumour volume and molecular genetic mutations were retrospectively determined. RESULTS: The median patient age was 49.5 years at initial surgery. The left orbit was affected in 65% of cases. The most common clinical symptom was proptosis (80%). This was reported with a mean lateral difference of 3.9 mm (range: 1 - 10 mm). The tumours were localised predominantly in the intra- and extraconal space, craniolateral quadrant and middle third. The median tumour volume was 7.66 cm³ (range 2.15 - 12.57 cm³). In all patients, the diagnosis was made by pathological examination. All tumours investigated showed a NAB2-STAT6 mutation. The most frequently detected mutation was the fusion NAB2 exon 4 - STAT6 exon 2. All patients were initially managed with frontolateral orbitotomy. Incomplete resection (R1-status) occurred in 35% (n = 7). The recurrence rate was 25% (n = 5), with a median disease-free interval of 45.5 months (range 23 - 130). 80% (n = 4) of recurrences were initially R1-resected. CONCLUSION: Orbital solitary fibrous tumours are rare tumours and are clinically manifested by signs of displacement of orbital structures. Diagnosis is made by histology and immunohistochemistry and can be proven with the molecular genetic detection of the NAB2-STAT6 mutation. The therapy of choice is complete surgical resection. R1-resection is more likely in the intraconal location as well as in location in the posterior third of the orbit - due to difficult surgical accessibility. The greatest risk factor for the development of recurrence is incomplete surgical excision. Late recurrences are possible, which is why a long-term connection to a specialised clinic is necessary.

Magnetic Resonance Imaging Findings in Patients With Duane Retraction Syndrome.

BACKGROUND: Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS). METHODS: The study comprised 20 orthotropic control subjects (40 eyes) and 42 patients with Duane syndrome (48 eyes), including 20 patients with DRS Type I (24 eyes), 5 patients with DRS Type II (6 eyes), and 17 patients with DRS Type III (18 eyes). Three-dimensional (3D) T1/2 images of the brainstem and orbit were obtained to visualize the cranial nerves, especially the abducens (VI) and oculomotor (III) nerves, as well as extraocular muscles. RESULTS: Based on the clinical classification, among 42 patients, MRI showed that the abducens nerves (CN VI) on the affected side were absent in 24 of 24 eyes (100%; 20 patients) with Type I DRS and in 16 of 18 eyes (88%; 16 patients) with Type III DRS. However, CN VI was observed in 6 of 6 eyes (100%; 5 patients) with Type II DRS and in 2 of 18 eyes (11%) with Type III DRS. CN III was observed in all patients. The oculomotor nerves on the affected side were thicker than those on the nonaffected contralateral side in DRS Type I ( P < 0.05) and Type III ( P < 0.05), but not in DRS Type II. Smaller LR and larger MR volumes were shown in the affected eye than that in the nonaffected eye in DRS Types I and III. Based on the presence or absence of CN VI, there was a tendency for thicker oculomotor nerves in the affected eye than in the nonaffected eye in the absence groups ( P < 0.05). However, no significant difference was found in the present group. In the CN VI absence groups, similar results were found in the affected eyes than in the nonaffected eyes as in DRS Types I and III. In addition, the presence of CN VI was correlated with better abduction ( P = 0.008). The LR and MR volumes have positive correlations with the oculomotor nerve diameter in the affected eye. However, there was no correlation between the range of adduction/abduction and the LR/MR ratio in patients with or without an abducens nerve. CONCLUSIONS: Different types of DRS have different characteristic appearances of CN VI and CN III on MRI. Horizontal rectus muscles have morphological changes to adapt to dysinnervation of CN VI and aberrant innervation of CN III. Thus, these neuroimaging findings may provide a new diagnostic criterion for the classification of DRS, improving the comprehension of the physiopathogenics of this disease.

A Rare Case of Methotrexate-Associated Lymphoproliferative Disease in the Orbit.

An 80-year-old Caucasian female with a history of rheumatoid arthritis presented with a 6-month history of progressive right upper eyelid ptosis, edema, erythema, and pain. MRI demonstrated a superior orbital mass. An incisional biopsy was performed, and pathologic analysis revealed an atypical lymphoid infiltrate, co-expressing both B and T-cell markers, with a low proliferation rate. Flow cytometry and IgH rearrangement study did not demonstrate any B- or T-cell monoclonal proliferation. Based on these findings, she was diagnosed with an iatrogenic immunodeficiency-associated lymphoproliferative disorder. Discontinuation of methotrexate resulted in the complete resolution of her symptoms, and she remains in remission 18 months later. Given the increased risk of lymphoproliferative disease in patients with rheumatoid arthritis, careful evaluation and close monitoring upon immunosuppressive medication withdrawal is necessary to confirm the diagnosis.

Hybrid Schwannoma-Perineurioma of the Orbit.

A 52-year-old woman presented with a 6-month history of progressive right proptosis associated with intermittent right retrobulbar and facial pain. MRI revealed a heterogeneously enhancing, well-circumscribed, ovoid, soft tissue mass in the intraconal space near the right orbital apex displacing the optic nerve medially. Excisional biopsy established the diagnosis of a schwannoma-perineurioma hybrid peripheral nerve sheath tumor (HPNST). This case represents only the second reported occurrence, to our knowledge, of an orbital schwannoma-perineurioma HPNST.

Computed tomography and magnetic resonance imaging of the orbit in the diagnosis and treatment of thyroid-associated orbitopathy - experience from practice. A Review.

The purpose is to acquaint readers with the contribution of imaging methods (IMs) of the orbit, specifically computed tomography (CT) and magnetic resonance imaging (MRI), in the diagnosis of thyroid-associated orbitopathy (TAO). Methods: IMs of the orbit are an indispensable accessory in the clinical and laboratory examination of TAO patients. The most frequently used and probably most accessible method is an ultrasound examination of the orbit (US), which, however, has a number of limitations. Other methods are CT and MRI. Based on the published knowledge implemented in our practice and several years of experience with the diagnosis and treatment of TAO patients, we would like to point out the benefits of CT and MRI in the given indications: visualisation of the extraocular muscles, assessment of disease activity, diagnosis of dysthyroid optic neuropathy and differential diagnosis of other pathologies in the orbit. Our recommendation for an ideal MRI protocol for disease activity evaluation is also included.  Conclusion: IMs play an irreplaceable role not only in the early diagnosis of TAO, but also in the monitoring of the disease and the response to the applied treatment. When choosing a suitable IM for this diagnosis, a number of factors must always be taken into account; not only availability, cost and burden for the patient, but especially the sensitivity and specificity of the given method for the diagnosis of TAO.

Ocular symptoms in underlying sinonasal disease.

In this case report, two patients were initially presented with orbital symptoms due to undiagnosed sinonasal disease. An eight-year-old girl was suspected of preseptal cellulitis due to swelling and redness around the right eye for a month. MRI of the orbit showed a change in the orbit suspected to be a tumour. Regression in symptoms was seen after three months and a mucocele was suspected. The other patient was a 57-year-old woman suspected of left-side acute dacryocystitis with a palpable mass above the medial canthus for a month. MRI was performed due to atypical presentation and showed tumour changes originating from the ethmoid sinus.

Orbitopatía tiroidea. Puntos clave para el diagnóstico y tratamiento / Thyroid orbitopathy. Tricks for diagnosis and treatment

La orbitopatía tiroidea (OT) es una patología autoinmune de etiología desconocida. Se trata de una enfermedad edematosa e inflamatoria crónica y a veces subaguda o aguda, cuyas características principales son edema palpebral, úlceras corneales, hipertensión ocular, exoftalmos generalmente bilateral, estrabismo restrictivo, diplopía y neuropatía óptica. El objetivo principal es realizar una revisión y actualización acerca del enfoque diagnóstico y terapéutico de la OT. Realizar una revisión y actualización acerca del enfoque diagnóstico, terapéuticos de la OT. Métodos: Revisión de la literatura publicada referente a la OT y manera actual de enfocar esta patología. Resultados: La OT es una enfermedad inflamatoria orbitaria con un posible origen autoinmune y que suele asociarse a trastornos metabólicos de la glándula tiroidea. Fisiopatológicamente su mecanismo no está claro. Afecta mayormente a mujeres y está negativamente influenciada por factores como el tabaquismo, la edad, el sexo y la raza. Es imprescindible clasificarla en cuanto a su severidad y su actividad para un correcto manejo. Conclusiones: El conocimiento clínico de OT es esencial para el diagnóstico precoz de la enfermedad. El tratamiento médico, en caso de OT activa, debe ser precoz, agresivo y acorde a la fase en que se presente el paciente con el fin de evitar las graves consecuencias de la OT. El tratamiento quirúrgico deberá ser lógico y ordenado, pero a su vez rápido, con el fin de devolver al paciente al entorno laboral, social y familiar. (AU)

Purpose: Thyroid orbitopathy (TO) is an autoimmune disease of unknown etiology. It is a chronic and sometimes subacute or acute edematous and inflammatory disease, the main characteristics of which are eyelid edema, corneal ulcers, ocular hypertension, generally bilateral exophthalmos, restrictive strabismus, diplopia and optic neuropathy. The main purpose of this work is to review and update the current diagnostic and therapeutic approaches. To propose a practical, basic and precocious approach based in the knowledge of the TO. Methods: Literature review and exposition of our experience in the management of TO. Results: TO is an inflammatory orbital disease that probably has an autoimmune origin and most of the time is related to systemic disorders of the thyroid gland. Pathogenesis of the disease is not yet fully understood. Women are more likely to develop TO, and the disease is clearly affected by several factors such as smoking, age, sex and race. It is crucial to determine TO severity and activity for a correct management. Conclusions: Clinical knowledge is essential for the early diagnosis of this disorder, and it is the most important factor for the proper management of the disease. The medical treatment must be initiated promptly and should be aggressive and based in the current phase of the disease, in order to avoid the severe damage that follows TO. The surgical approach must be logical and sequential, but, on the other hand, must be rapid and aggressive in order to return the patient to his/her labour, social and familiar environment. (AU)

Bilateral orbital dermoid cysts: A case report.

Dermoid cysts are one of the most common benign orbital tumours in children and usually occur unilaterally. Bilateral dermoid cysts in the orbit are rare. We report here, a case of bilateral orbital dermoid cysts, in a 29-month-old baby girl. The patient's prognosis was favourable following surgical resection. Through this case report, we hope to increase the recognition and understanding of this condition.

Operative management of trigeminal schwannomas: based on a modified classification in a study of 93 cases.

BACKGROUND: Advances in microscopic and endoscopic surgical techniques have outpaced traditional classification and transcranial surgical strategies, especially with reference to the treatment of trigeminal schwannomas (TSs). A modified TS classification is proposed and appropriate surgical strategies are discussed. METHODS: The cases of 93 patients who underwent surgical treatment in Beijing Tiantan Hospital in the previous 6 years were analyzed retrospectively, and a literature review was conducted. RESULTS: Classification is based on surgical direction. Tumors were classified as follows: type A, backward orientation, located in the orbit or orbit and middle cranial fossa (8 cases, 8.6%); type B, upward orientation, located in the pterygopalatine fossa, infratemporal fossa or pterygopalatine fossa, infratemporal fossa, and middle cranial fossa (23 cases, 24.7%); type C, forward and backward orientations, located in the middle cranial fossa, posterior cranial fossa or both (58 cases, 62.4%); and type D, located in multiple regions (4 cases, 4.3%). 91.40% of patients underwent gross total resection (GTR) with 29 cases receiving endoscopic resection of whom 93.10% (27/29) experienced GTR. CONCLUSION: The 93 cases were satisfactorily divided into four types, according to tumor location and surgical orientation, enabling safe and effective removal by appropriate surgery.

How I do it: micro-neurosurgical resection of spheno-orbital meningioma with customized orbit reconstruction technique.

BACKGROUND: Spheno-orbital meningioma (SOM) is a rare intracranial pathology with intraosseous hypertrophy and intraorbital extension. METHOD: We described a middle-aged female with SOM who was managed in a micro-neurosurgical manner. The titanium implant was customized and applied to rebuild the orbital wall to prevent postoperative enophthalmus. CONCLUSION: Despite technical demands, favorable cosmetic, and clinical outcomes without complications can be achieved by meticulous surgical technique following radical resection. CLINICAL TRIAL REGISTRATION: NA.

Maligne Neoplasien der Orbita.

Malignant masses of the orbit include a large variety of neoplasms of epithelial or mesenchymal origin. The treatment of orbital malignancies is an essential interdisciplinary field of medicine that integrates ENT medicine, facial surgery, plastic surgery, neurosurgery, oncology and radiology.The main symptom of malignant orbital masses is the exophthalmos. A symptom that can help to differentiate a benign from a malignant orbital mass can be the pain. The main diagnostic tool is the MRI including new sequences like DWI and DCE.After presenting symptoms and diagnostic strategies of malignant orbital masses, this article starts with the description of malignant epithelial neoplasms of the lacrimal gland. Furthermore, it describes new insights in orbital lymphomas, followed by the discussion of semimalignant orbital masses. Last but not least the text deals with malignant neoplasms of the skin that can grow secondarily in the orbit. Finally, the manuscript discusses orbital metastases.

Primary orbital yolk sac tumor in an infant: A rare entity.

We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the right eye and on examination had proptosis, chemosis, and lid edema. Systemic examination was within normal limits. Magnetic resonance imaging (MRI) orbit revealed a lobulated heterogeneously enhancing right retroocular mass extending up to the orbital apex, displacing the optic nerve and eroding the medial orbital wall. Biopsy of the lesion revealed pure YST histology. Serum alpha-fetoprotein (AFP) was markedly raised at 76900 ng/mL. She was started on infant bleomycin etoposide cisplatin (BEP) chemotherapy protocol. There was a good clinical and radiological response. A high index of malignancy is required in young children presenting with orbital proptosis. A multidisciplinary approach and early intervention are essential to save both vision and life.