Introduction Le mélanome conjonctival, dont l’incidence augmente continuellement, représente environ 5 % de l’ensemble des mélanomes oculaires ; 30 à 50 % de ces mélanomes conjonctivaux présentent des mutations de l’oncogène BRAF et environ 20 % des mutations du gène NRAS (avec comme mutation récurrente V600E, Q61R respectivement). Objectif Le but de ce travail est d’étudier la sensibilité et la spécificité des anticorps ciblant les protéines mutantes BRAFV600E et NRASQ61R dans une cohorte de mélanomes conjonctivaux. Matériel et méthode À partir d’une cohorte de 25 mélanomes conjonctivaux diagnostiqués dans le service de pathologie oculaire de l’hôpital des 15–20 entre 2011 et 2022, une relecture centrale des diagnostics a été réalisée. Puis, un bloc de tissu paraffiné de chaque cas a été sélectionné pour permettre l’analyse immunohistochimique (anticorps prédilués anti-BRAFV600E clone IHC600 et anti-NRASQ61R clone RBT-NRAS, Diagomics) et en parallèle une analyse en biologie moléculaire (séquençage ciblé des mutations hotspots des gènes BRAF et NRAS). Après déparaffinage, un démasquage pendant 60minutes à pH 8,5, puis une incubation de l’anticorps (20minutes pour BRAF et 30minutes pour NRAS) ont été réalisés. Une amplification a été nécessaire pour l’anticorps anti-NRAS. Enfin, les lames ont subi des étapes de lavage et contre-coloration à l’hématoxyline. Résultats Les résultats concernant l’immunohistochimie anti-NRAS et anti-BRAF montrent une sensibilité de 100 % pour les deux et une spécificité de 95 et 94 %. Quand elle était présente, cette expression était forte et diffuse pour les deux anticorps. Deux cas positifs en immunohistochimie (1 pour NRAS et 1 pour BRAF) n’ont pas été confirmés en biologie moléculaire. Discussion/conclusion Ce travail constitue la première série étudiant la valeur prédictive de l’immunohistochimie dans la détection des mutations BRAF et NRAS dans les mélanomes conjonctivaux. L’immunohistochimie anti-BRAF V600E a montré par le passé sa valeur diagnostique dans plusieurs types tumoraux dont les mélanomes cutanés. En revanche, l’immunohistochimie anti-NRASQ61R a révélé des résultats contradictoires quant à sa spécificité dans la littérature en dehors des tumeurs oculaires. Nos résultats montrent une bonne corrélation entre expression des protéines mutées BRAF/NRAS et la présence des mutations en biologie moléculaire. Ceci pourrait constituer alors un outil rapide, peu onéreux et préservant le matériel tissulaire pour réaliser le profilage de ces tumeurs.

An 87-year-old French woman presented with a 2-cm diameter nodule of the infra-orbital edge. The nodule (see Supplementary material, Fig. S1) was subcutaneous, mobile with respect to the underlying structures, and had never been either inflammatory or painful. The patient had no particular past medical history or habitus except that she spent 3 months each year in Italy with her dog. Due to recent discomfort, surgical excision was performed. Anatomical pathology showed a fibro-inflammatory reaction containing some eosinophils surrounding sections of a worm with a diameter of c.500 μm and ornamented with longitudinal ridges along the cuticle (Fig. 1, Fig. 2). This led us to the diagnosis of dirofilariasis.Fig. 2Section of the worm showing (a) two genital tubes, (b) the muscle layer, (c) detail of the cuticle with characteristic external longitudinal ridges (haematoxylin & eosin stain, ×400 magnification).View Large Image Figure ViewerDownload Hi-res image Download (PPT) Dirofilariasis is a parasitic zoonosis due to nematodes of the Dirofilaria genus [[1]Capelli G. Genchi C. Baneth G. Bourdeau P. Brianti E. Cardoso L. et al.Recent advances on Dirofilaria repens in dogs and humans in Europe.Parasit Vectors. 2018; 11: 663Crossref PubMed Scopus (109) Google Scholar]. These worms are transmitted by many different mosquito species (Aedes, Culex, Anopheles, Mansonia, Culiseta, Simulium) to domestic and wild canids and, incidentally, to humans, that mostly represent a dead-end host [[2]Diaz J.H. Increasing risks of human dirofilariasis in travelers.J Travel Med. 2015; 22: 116-123Crossref PubMed Scopus (22) Google Scholar]. Dirofilaria immitis and Dirofilaria repens are the most frequently involved species. Human cases due to the former have been mostly reported in the USA. In contrast, D. repens is more cosmopolitan, and an increasing incidence of human cases is reported from southern European countries, especially Italy, where our patient may have been infected. In contrarst to D. immitis, which can be responsible for deep-organ infections, notably at the lungs and the heart levels, D. repens usually develops into a single subcutaneous nodule, mostly located in ocular and facial regions. The demonstration of longitudinal ridges along the cuticle ruled out D. immitis, and combined with the probable geographical area of contamination supported the identification of D. repens. Surgical removal of the nodule is the definitive and curative treatment of dirofilariasis. The authors declared that there are no conflicts of interest. No funding was received for this study. The following is the Supplementary data to this article: Download .jpg (.28 MB) Help with files Fig S1A sub-optimal (but unique) photograph of the nodule; subcutaneous nodule under the inferior eyelid (arrow). Obtained with the permission of the patient's daughter.

To assess the role of colour Doppler flow imaging (CDFI) in the diagnosis and management of lacrimal fossa lesions.

Aneurysmal bone cyst is a rare benign bone neoplasm of unknown cause. The most commonly affected anatomical sites are the vertebral column and long bones. We report two uncommon cases of primary orbital aneurysmal bone cyst presenting as an acute orbital compartment syndrome due to subperiosteal hemorrhage. Case 1 is a 45-year-old woman. Imaging studies revealed a small cystic frontal bone tumour associated with a subperiosteal hematoma. The patient achieved full visual recovery after drainage of the hematoma, with no recurrence after treatment. Case 2 is a 74-year-old woman whose visual acuity was light perception due to severe papilledema. Imaging studies of the orbit revealed a large cystic frontal bone tumor associated with a subperiosteal hematoma causing globe and optic nerve compression. Preoperative arteriography showed a moderate vascular blush. Drainage of the hematoma was performed. A local recurrence with hematoma formation occurred two years after the surgery. (C) 2016 Elsevier Masson SAS. All rights reserved.

Le kyste anévrysmal osseux est une tumeur bénigne rare d’étiologie inconnue, le plus souvent localisée au niveau de la colonne vertébrale et des os longs. Nous rapportons deux cas de kystes anévrysmaux osseux primitifs révélés par un syndrome orbitaire aigu dû à une hémorragie sous-périostée. Le premier cas est une femme de 45ans. L’imagerie montre une lésion frontale kystique de petite taille associée à un hématome sous-periosté. La récupération visuelle est complète après drainage de l’hématome, sans récidive postopératoire. Le deuxième cas est une femme de 74ans. L’acuité visuelle est limitée à la perception lumineuse à cause d’un œdème papillaire. L’imagerie orbitaire montre une large tumeur kystique de l’os frontal et un hématome sous-périosté qui comprime le nerf optique. L’artériographie préopératoire montre un blush vasculaire modéré. Le traitement consiste en un drainage de l’hématome. Une récurrence locale hémorragique est survenue deux ans après la chirurgie.

IgG4-related systemic disease (IgG4-RSD) is an emerging clinical entity about which much remains to be elucidated, in terms of its aetiology, pathogenesis, diagnosis, treatment and outcome. Autoimmune pancreatitis (AIP) and Mikulicz disease (MD) are the two major, well-studied constituents of IgG4-RSD. AIP and MD have common characteristics of forming tumour-mimicking lesions that consist of lymphoplasmacytic infiltrates and fibrosclerosis with numerous immunoglobulin G4 (IgG4)-positive plasma cells, as well as various multi-organ manifestations of IgG4-RSD. 2-[18F]-fluoro-2-deoxy-d-glucose positron-emission tomography/ computed tomography (FDG PET/CT) enables the acquisition of whole-body images and provides functional information about disease activity; as such it has a valuable role in staging extent of disease, guiding biopsy, and monitoring response to treatment. However, FDG PET/CT is likely to be only one component of the management strategy, and clinical, laboratory, imaging and histological findings are crucial in the overall diagnosis of the condition. At present FDG PET/CT does not have a well-established role in the assessment of patients with IgG4-RSD and future prospective studies are required to define the cost-effectiveness and clinical impact in this patient group more accurately.

Cavernous hemangioma is the most frequent benign orbital tumor in adults. The purpose of this study was to examine its clinical features, to define surgical indications, and to determine the roles of the various surgical approaches praticed in ophthalmology: transconjunctival (increasingly utilized), anterior transcutaneous, and lateral orbitotomy. The records of all patients treated for orbital cavernous hemangioma (OCH) since 2004 at the Fondation Rothschild (Paris, France) were retrospectively reviewed. Forty-three patients were treated for orbital cavernous hemangioma. Fifty-eight percent were women, mean age 50.2; 79% of the tumors were intraconal. Among those patients, 36 underwent surgical removal, 5 were followed periodically, and 2 were lost to follow-up. The main surgical indications were: optic nerve compression (26 patients), proptosis (24 patients) and diplopia (3 patients). Transconjunctival, anterior transcutaneous and Kronlein approaches were used in 16, 12 and 4 patients respectively. Four patients had intrapalpebral hemangiomas easily reached transcutaneously. Two patients demonstrated transient partial 3rd nerve palsy (one with the lateral orbitotomy approach and one with the transconjunctival approach), one patient with the lateral orbitotomy approach developed a palsy of the superior branch of the 3rd nerve, and one patient with the transcutaneous anterior approach developed mydriasis. Surgical excision of OCH's is required in the presence of clinical complications. The transconjunctival approach is a safe technique which can lead to complete resection of the tumor in most cases. (C) 2013 Elsevier Masson SAS. All rights reserved.

Purpose. - To describe the management of orbital exenterations and the surgical techniques for the reconstruction of orbital exenteration cavities.Patients and methods. - This retrospective study includes 56 patients who underwent orbital exenteration between 2000 and 2009. Patients' age at the time of exenteration, diagnoses, complications and reconstructive techniques were studied.Results. - Fifty-six patients - 31 male and 25 female patients - who underwent orbital exenteration between 2000 to 2009 were included in the study. The mean age was 62.5 years at the time of exenteration. Average follow-up was 23 months. The principal diagnoses were basal cell carcinoma of the eyelids (25%) and conjunctival melanoma (20%). For orbital reconstruction, 18 patients (32%) had a muscle flap, and 24 patients (43%) underwent secondary reconstruction by bone-anchored implants after spontaneous epithelialisation of the orbit. Approximately 50% of the patients received postoperative radiation therapy.Discussion. - Surgical reconstruction using muscle flaps may mask recurrent tumor. Epithelialisation and bone-anchored implants supporting the prosthesis allow for recurrent cancer surveillance while providing better stabilization of the prosthesis. Radiation therapy seems to render the orbit more fragile and thus less stable for implants.Conclusion. - Orbital exenteration is a mutilating technique. Rehabilitation techniques have been improved, in particular the bone-anchored implants which allow adaptation of the prosthesis with satisfactory cosmetic results. (C) 2012 Elsevier Masson SAS. All rights reserved.

Purpose Idiopathic orbital inflammation is a rare clinical entity which has protean clinical manifestations. It’s a diagnosis of exclusion which imposes a biopsy, and which can be made only after a screening to rule out a systemic etiology of inflammation. Methods Retrospective series of 18 histologically-proven orbital inflammation cases seen in our service between 2006 and 2011. Results The study encompassed 7 men and 11 women, with a mean age of 47 years old (4-83). Patients complained of a pain (44%), a diplopia (33%), a decreased visual acuity (17%). A swollen eyelid or a palpable mass were presents in 78% of the cases. Less often, we noted proptosis, or a diminished ocular motility. The radiologic analysis (CT-scan, NMR, doppler ultrasound examination) found an inflammation localized to the orbital fat, to the lacrymal gland, and to one or several oculomotor muscle(s) in respectively 89%, 67%, and 39% of the cases. Excisional biopsy was curative for 33% of the cases. 61% of the patients received a corticotherapy, with a relapse or a recurrence in 60% of the cases, making necessary to have recourse to immunosuppressive agents (methotrexate), with a good control rate on the inflammation (75%). Finally, 76% of the patients obtained a complete resolution of their symptoms at the end of the follow-up (mean : 20 months). Conclusion Treatment lies on surgical exeresis if it is safely. Corticotherapy is frequently not sufficient. Methotrexate seems to be an interesting alternative. Recent works concentrate on Systemic IgG4 Disease, who could be a frequent cause of orbital inflammation, calling the term "idiopathic" into question, and letting us think about targeting treatments.

Recombinant interferon alpha (IFN2B) is a proposed therapy for corneal intraepithelial neoplasia (CIN). Clinical response to this treatment is frequently challenging due to the delay between initiation of the IFN2B topical application and the beginning of CCIN regression. We present the case of a successful IFN2B treatment with prospective in vivo confocal microscopy imaging. A 50-year-old man was referred to our department for a recurrence of a conjunctival–corneal intraepithelial neoplasia (CCIN) in his right eye. A 2-month course of topical 0.02% mitomycin C (MMC) therapy was withdrawn a month earlier due to lid allergy. The lesion extended nasally from conjunctiva to peripheral cornea. Despite a surgical excision with cryotherapy, the intraepithelial neoplasia recurred 1 month later in the peripheral cornea (figs 1, 2). Since the large limbal resection and MMC treatment presented the risk of corneal epithelial stem cell deficiency, IFN2B was chosen as a subsequent therapeutic procedure.1 The follow-up included slit lamp and in vivo confocal microscopy examination on a monthly basis during 6 months. Under this regimen, healing was observed within …