Rosai-Dorfman Disease involving the eye and ocular adnexa. Clinicopathologic series of 17 patients.

PURPOSE: To describe the clinical features and histopathologic findings of Rosai-Dorfman disease (RDD) with ophthalmic involvement diagnosed at a Mexican ophthalmologic referral center in a period of 62 years. RESULTS: A total of 17 cases of RDD with ophthalmologic manifestations in Mexican-mestizo patients were collected. Female predominance was observed in 12 of 17 patients. The mean age was 36 years with a range of 12-76 years. The median age at presentation was 32 years. The orbit was the most affected location with 15 cases. Conjunctival disease was seen in 4 cases: two as isolated lesions, the rest with orbital or uveal involvement . One case suggested choroidal RDD associated to conjunctival and orbital lesion. Three cases presented multifocal disease. A patient with orbital affection developed extranodal disease elsewhere. No concurrent lymphadenopathy was observed in any patient.Histopathological examination revealed classic RDD findings in all cases: A polymorphous cellular infiltrate composed by lymphocytes, plasma cells and large histiocytes with emperipolesis hallmark of the disease. Immunohistochemically, histiocytes were positive for S-100 protein and CD68 in 15 cases. CONCLUSION: RDD of the eye and ocular adnexa in Mexican-mestizo patients is common in middle-aged women frequently as an isolated orbital lesion. Histopathology is necessary for accurate diagnosis. Most patients had a favourable outcome after medical and surgical treatment. To the best of our knowledge this is the largest case series of RDD of the eye and ocular adnexa in Latin-American patients.

Clinical and histopathological features of conjunctival "Teddy bear" granuloma: A case series.

PURPOSE: To describe the clinical features, histopathological findings, and prognosis of conjunctival Teddy bear granuloma (TBG) diagnosed in a Mexican ophthalmologic referral center in a period of 64 years. METHODS: We reviewed clinical and histopathological material from all patients with documented conjunctival TBG. Patient's age, gender, location, clinical signs and symptoms, duration, treatment and, specimen size, were evaluated. Formalin-fixed paraffin embedded 5 microns hematoxylin-eosin stained slides and periodic acid-Schiff special stain as well as examination under polarized light microscopy were performed in all cases. RESULTS: A total of 5 conjunctival TBG were collected. The ages of the patients ranged between 2 and 11 with a mean of 6 years. Female to male ratio was 4:1. The right inferior fornix was involved in 4 cases (80%) with clinical diagnosis of conjunctival mass of unknown etiology. Treatment consisted of surgical removal by slit-lamp biomicroscopy (3 cases) and in the operating room (2 cases). No complications were informed in a short follow-up period. Histopathologically, numerous cross-sections of synthetic and non-synthetic fibers surrounded by multinucleated foreign body giant cells, epithelioid histiocytes, lymphocytes, plasma cells and sparse neutrophils were seen. Polarization light microscopy demonstrated numerous birefringent colorful foreign fibers. The follow-up period of the patients ranged between 1 and 32 weeks with a mean of 10 weeks. CONCLUSIONS: Most patients with TBG are children with vague, non-specific symptoms troubling precise clinical diagnosis. Treatment of choice involves surgical excision of the foreign body granuloma followed by topical corticosteroids. All surgical specimens obtained must be sent for histopathological examination. Special awareness is recommended during COVID-19 pandemic lockdown to prevent potential exposure to fibers that may cause conjunctival TBG.

Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.

BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is a multisystemic disease with autosomal dominant inheritance, characterized by the deposition of amyloid-insoluble proteins. We describe a case of vitreous amyloidosis as the initial presentation of ATTRv amyloidosis resulting from the rare Ile107Met (p.Ile127Met) pathogenic variant. MATERIALS AND METHODS: Ophthalmic examination, multimodal imaging, vitreous biopsy, and genetic testing were performed to confirm the diagnosis. RESULTS: A 44-year-old woman presented with blurred vision and floaters in both eyes (OU) for 1 year. The vitreous showed numerous strand-like opacities that were predominant in the anterior vitreous of OU. After a systemic workup and excluding malignancy, vitreous amyloidosis was suspected. Pars plana vitrectomy (PPV) of the left eye (OS) was performed, and a vitreous sample was obtained for histopathology. Homogeneous eosinophilic granular and filamentous deposits that showed an orange-red color with Congo red special stain were observed in the vitreous material, confirming vitreous amyloidosis. A PPV for the right eye (OD) was performed, and her vision at discharge was 20/20 OU. Systemic evaluation discarded neurologic or other systemic manifestations; however, there was familiar involvement in three generations with neurologic symptomatology, confirming an autosomal dominant inheritance pattern. Molecular analysis of the TTR gene showed a likely pathogenic variant Ile107Met (p.Ile127Met). CONCLUSIONS: The present report describes a patient with ATTRv amyloidosis with initial vitreous involvement and the pathogenic variant Ile107Met (p.Ile127Met). It is important to consider vitreous amyloidosis as part of the non-malignant, non-infectious uveitis masquerade syndromes.

Conjunctival Myxoma: High-Resolution Optical Coherence Tomography Findings of a Rare Tumor.

PURPOSE: The purpose of this study was to describe 2 cases of biopsy-proven conjunctival myxomas and present their optical signs on high-resolution optical coherence tomography (HR-OCT) with clinical and histopathological correlations. METHODS: Two middle-aged female patients with a clinical diagnosis of conjunctival cysts were referred for surgical treatment. Clinical assessment, photographs, ultrasound biomicroscopy, and HR-OCT images were obtained. Excisional biopsies were performed, and specimens were sent for histopathological and immunohistochemical analyses. RESULTS: Clinically, these patients presented with a well-circumscribed, semitranslucent, yellow-pinkish mass. Ultrasound biomicroscopy showed a dome-shaped epibulbar mass with medium-to-high internal reflectivity. No compromise of the underlying sclera was noted. HR-OCT showed a normal conjunctival epithelium, a subepithelial nonhomogeneous mass with hyperreflective and hyporeflective areas lined by a highly hyperreflective band, and mild posterior shadowing. Histopathological findings and immunoreactivity for CD34 and vimentin confirmed the diagnosis of conjunctival myxoma. CONCLUSIONS: The HR-OCT optical signs found in our 2 cases strongly correlated with the microscopic findings. Disclosing the optical signs observed on HR-OCT can help clinicians diagnose and differentiate this lesion, guiding its management. However, more studies with a larger number of patients comparing conjunctival myxoma and other ocular surface tumors are needed to enlighten readers about the unique pattern observed by HR-OCT.

Conjunctival tattoo with inadvertent ocular globe penetration and vitreous involvement: Clinico-pathological correlation and scanning electron microscopy X-ray microanalysis.

PURPOSE: The aim is to report a case of conjunctival tattooing with inadvertent injection of tattoo ink into the vitreous cavity and its consequences, the scanning electron microscopy X-ray microanalysis of the ink components, and the microscopic findings of the affected conjunctiva and vitreous. METHODS: Descriptive case report. RESULTS: A 32-year-old man complained of ocular pain and blurred vision after undergoing a subconjuctival red ink tattoo in his left eye. Ophthalmologic examination revealed best corrected visual acuity of 20/80 and intraocular pressure of 26 mmHg. Pain was elicited with eye movements. The bulbar conjunctiva was colored intense red. In the anterior chamber, pigment granules and filaments were suspended on the aqueous humor, and lens capsule was also stained red. Ultrasonography showed high-density non-mobile echoes in the conjunctiva; anterior chamber and vitreous cavity revealed high-density mobile echoes corresponding to pigment particles. Conjunctival tattoo with inadvertent globe penetration was the clinical diagnosis. The patient received medical and surgical treatment. Histopathological examination of the conjunctiva showed red pigment globular deposits within the stroma, and neutrophils and sparse histiocytes with similar intracytoplasmic pigment granules were seen. No granulomatous foreign body reaction was noticed. Vitreous material contained pigment granules; no inflammatory cells were observed. Scanning electron microscopy X-ray microanalysis of the tattoo red ink revealed significant signals of iron, barium, and copper. CONCLUSION: Conjunctival tattoo is a new form of body decoration gaining worldwide popularity. This procedure is performed by untrained professionals causing severe ocular complications including blindness. Safety regarding tattoo ink needs further study as the composition varies among colors. Strict regulations on this matter should be considered.

Just another metastatic carcinoid tumour to the uveal tract.

We describe the clinic, image, and histopathologic features of a well differentiated neuroendocrine carcinoma (carcinoid tumour) metastatic to choroid and ciliary body in a 52-year-old Mexican Mestizo man. The ophthalmologic examination showed an inferior choroidal mass accompanied by exudative retinal detachment. Ultrasound B-Scan study revealed a diffuse thickened choroid with overlying serous retinal detachment, ultrasound A-Scan revealed a high internal reflectivity solid lesion. Ultrasound biomicroscopy (UBM) evidenced a dome shaped ciliary body mass, presumptive diagnosis was uveal tract metastatic disease. Scleral flap choroidal incisional biopsy was performed. Microscopic evaluation demonstrated a hypercellular lesion replacing choroid, composed by cohesive oval-round cells with finely granular chromatin arranged in organoid pattern. Immunohistochemical reactions were Pankeratin AE1/AE3 (+), Cytokeratin CK5/6 (+), Chromogranin A (+), Ki67 (20%), typical well differentiated neuroendocrine carcinoma (carcinoid tumour) was diagnosed. Patient had a mediastinal carcinoid diagnosed 3 years earlier. Metastatic cancer to the eye is perhaps the leading cause of intraocular tumour, despite this fact metastases are rarely seen by the ophthalmologist while the patient is alive. Intraocular metastasis should be considered in the presence of ciliary body or/and choroidal amelanotic or pigmented mass and serous retinal detachment in a patient with history of carcinoid tumor, althought its low frequency (2.2%).

Primary conjunctival myxoma: case series and review of the literature.

AIMS: Myxomas are benign soft tissue tumours resembling primitive mesenchyme. They rarely involve ocular structures, and have been recognized in the conjunctiva, eyelids, cornea, and orbit. The aim of this study was to investigate the clinicopathological features of seven patients with primary conjunctival myxoma seen at Dr Luis Sánchez Bulnes Hospital, an ophthalmological referral centre in Mexico City. METHODS AND RESULTS: We reviewed the clinical, histochemical and immunohistochemical studies of patients with documented myxoma of the conjunctiva diagnosed in our hospital. Seven conjunctival myxomas were retrieved from 5923 conjunctival biopsies (0.1%). The mean age of patients was 40 years, with a range of 27-51 years. Females were more frequently affected, and none of our patients had systemic disease. The left eye was involved in five cases, and most of the lesions were located in the bulbar conjunctiva. Histopathological examination revealed a benign tumour composed of spindle-shaped and stellate-shaped cells immersed within an abundant mucinous matrix with sparse vessels and reticulin fibres. Immunohistochemistry demonstrated positivity for vimentin and negativity for smooth muscle actin, SOX10 and GLUT1 in myxoma cells of all cases. S100 was found to be positive in four cases, and muscle-specific-actin in three cases. CONCLUSIONS: Conjunctival myxomas are uncommon tumours. For accurate diagnosis, histopathological examination is mandatory. The treatment of choice is surgical removal, and the prognosis is excellent.

[Infraorbital schwannoma. Case report]. / Schwannoma infraorbitario. Informe de un caso.

BACKGROUND: Infraorbital schwannoma is a benign tumor of the peripheral nerve seath composed of Schwann cells. Usually occurs between 20 and 70 years of age, are usually asymptomatic and can cause progressive, painless proptosis during growth. CLINICAL CASE: A 32-year-old male admitted to ophthalmologic hospital with a painless, slowly progressive mass above the left lacrimal sac. At the ophthalmologic examination the tumor had a rubbery consistency and was firmly attached to the surrounding structures. The transillumination was negative. The B mode ultrasound disclosed a phakic eye as well as an infraorbital well-circumscribed homogeneous mass with a largest diameter of 19.7 mm, without involvement of the lacrimal pathway. The A mode ultrasound showed medium-high reflectivity with small internal vascularity. The computed tomography showed a homogeneous wellcircumscribed solid mass anterior and inferior to the left globe without bony erosion. Through subdermic incision the mass was excised. The histopathological diagnosis was "Infraorbital schwannoma". CONCLUSIONS: The schwannoma is a rare benign tumor in the orbit, few cases have been reported. The definitive diagnosis is made by histopathologic findings as the presence of a true capsule, hyper-and hypocellular areas, thickening and hyalinization of the vessel walls. When these findings are not be confused with benign fusocellular tumors. We report a new case of infraorbital schwannoma and compared it with those cases previously reported.

Antecedentes: el schwannoma infraorbitario es un tumor benigno de la vaina nerviosa periférica compuesto por células de Schwann. Suele aparecer entre los 20 y 70 años de edad, asintomático y producir proptosis progresiva e indolora durante su crecimiento. Caso clínico: paciente masculino de 32 años de edad que ingresó al hospital debido a un tumor no doloroso de crecimiento lentamente progresivo sobre el saco lagrimal izquierdo. A la exploración oftalmológica el tumor era de consistencia ahulada y estaba firmemente adherido a las estructuras vecinas. La transiluminación resultó negativa. El ultrasonido modo B mostró un ojo fáquico y un tumor infraorbitario homogéneo, bien circunstrito, con diámetro mayor de 19.7 mm, sin afectación de la vía lagrimal. El ultrasonido modo A mostró una reflectividad media-alta, con escasa vascularidad interna. La tomografía computada mostró un tumor de densidad homogénea, bien circunscrito a la región anterior y por debajo del globo ocular, sin erosión ósea. El tumor se extirpó mediante una incisión subdérmica. El diagnóstico histopatológico fue: schwannoma infraorbitario. Conclusiones: el schwannoma es un tumor benigno, poco frecuente en la órbita. Su diagnóstico definitivo se establece con base en los hallazgos histopatológicos, como: cápsula verdadera, áreas hiper e hipocelulares, engrosamiento y hialinización de las paredes vasculares. Sin esos hallazgos puede confundirse con tumores fusocelulares benignos. Se informa un nuevo caso de schwannoma infraorbitario y se compara con los casos previamente reportados.

Periocular myxoma in a child.

Myxomas are locally invasive, benign mesenchymal neoplasms with odontogenic, osteogenic, or soft tissue origin. Facial myxomas probably account for less than 0.5% of all paranasal sinus and nasal tumors. We report a case of a left painless periocular mass in a 11-month-old girl. The lesion was resected with a clinical diagnosis of lacrimal sac tumor. Histopathology and immunohistochemistry proved the tumor to be a myxoma. There has been no recurrence after 4 years of followup. Midfacial myxomas should be differentiated from other benign and malignant tumors such as dermoid, hamartoma, neurofibroma, nasolacrimal duct cyst, and sarcomas in particular embryonal rhabdomyosarcoma. Because of the infiltrative nature of these tumors, a wide surgery is required to achieve clear resection margins and avoid recurrence.

Advanced conjunctival melanoma.

BACKGROUND: Conjunctival melanoma is a rare neoplasm with an aggressive behaviour characterized by a high tendency to develop recurrences and metastases. The authors describe the clinicopathological features of four Mexican patients with advanced conjunctival melanoma. METHODS: Review of the cases of four patients with advanced conjunctival melanoma seen at an ophthalmologic referral centre in Mexico City. The clinical characteristics, gross findings and histopathological features were noted. RESULTS: The mean age of the patients (two women and two men) was 72 years (range 49 to 95 years). The left eye was affected in three cases and the right eye in one. Orbital exenteration was performed in two patients, enucleation in one and complete excision of the mass in one. One patient died 2 years after debulking surgery, and another patient is alive and free of disease 13 years after enucleation; the two other patients were lost to follow-up. The mean largest mass dimension of the tumours was 4 cm (range 3-5.4 cm). Histopathologically, all cases were associated with primary acquired melanosis with atypia. Two cases were composed of epithelioid cells, one of spindle cells, and one of a mixture of epithelioid and spindle cells. In three cases the number of mitotic figures ranged from 3 to 36/10 high-power fields; no mitotic activity could be demonstrated in one case. INTERPRETATION: The mean age of our patients at the time of diagnosis was older and their tumours were larger than those reported in other series. All the cases were associated with primary acquired melanosis with atypia. At the time of writing, one patient, who had a 3.3-cm tumour, had survived 13 years without clinically detectable disease.