Radiation-Induced Hyalinizing Clear Cell Carcinoma of the Orbit.

Radiation-induced malignancy is rare, occurring in approximately 0.4%-1.0% of patients receiving external beam radiation therapy. Sarcomas and squamous cell carcinomas are among the most common types of cancers to occur. A 74-year-old woman presented with redness and swelling in the right periorbital region. She had history of multiple recurrent ameloblastoma of the right maxilla, invading the right orbital floor status post 4 surgical resections and 66 Gray external beam radiotherapy 5 years prior. MRI showed a poorly circumscribed mass involving the inferior and lateral orbit. Orbital biopsy revealed clear cell carcinoma with hyalinizing sclerosis and Ewing sarcoma breakpoint region 1 gene arrangement. Due to the extent of orbital disease and presence of perineural invasion, she underwent orbital exenteration. Hyalinizing clear cell carcinoma, a rare cancer, has not been reported to occur in the orbit following radiation. This case highlights the importance of lifetime monitoring in patients who have undergone radiation therapy.

Pseudoprogression of Metastatic Melanoma to the Orbit With Pembrolizumab.

The management of metastatic melanoma to the orbit may involve a variety of therapeutic modalities including external-beam radiation, chemotherapy, and varying degrees of surgical resection or debulking. Pembrolizumab is an immunotherapeutic agent that has demonstrated efficacy in the treatment of metastatic melanoma. The authors present a case of metastatic melanoma to the orbit demonstrating profound pseudoprogression within hours of beginning pembrolizumab therapy, with associated mass effect and vision loss. Systemic corticosteroids, orbital external-beam radiation therapy, and a brief interruption in pembrolizumab halted expansion of the orbital lesion and vision loss. This case illustrates that rapid increase in orbital melanoma size, due to acute inflammatory response, may occur after initiation of systemic pembrolizumab therapy. Clinicians should be aware of this pseudoprogression mechanism as a potential cause of vision compromise in metastatic orbital melanoma. Prompt recognition and treatment may be needed to prevent permanent vision loss.

Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.

PURPOSE: We report a patient with severe multi-organ dysfunction of unknown origin who presented with bilateral orbital and chorioretinal manifestations that led to the diagnosis of Erdheim-Chester Disease (ECD). OBSERVATIONS: ECD is a rare, histiocytic, proliferative disorder characterized by multi-systemic organ involvement that has historically lacked effective therapy. Our patient underwent genetic testing that was positive for the BRAF V600E mutation; therefore, the patient was treated with vemurafenib. CONCLUSIONS AND IMPORTANCE: This case demonstrates the rare orbital and intraocular manifestations of ECD and the unfortunate impact of a delayed diagnosis, the importance of early gene therapy testing for management decisions, and the utilization of targeted directed therapy to improve visual outcomes and quality of life.

Disseminated silicone granulomatosis in the face and orbit.

PURPOSE: To report a case of disseminated silicone granulomatosis presenting with ptosis, proptosis and vision loss. OBSERVATIONS: A 56-year-old female presented with ptosis, proptosis, and vision loss and was noted to have palpable, erythematous masses involving the orbit, face, trunk, and body. She had a history of bilateral silicone breast implants and cosmetic facial filler injections. Orbital biopsy demonstrated non-caseating granulomas with foreign-body giant cells and vacuoles containing material consistent with silicone. Removal of the patient's breast implants and systemic immunosuppression led to dramatic granuloma regression. CONCLUSIONS: Silicone can induce a severe, systemic inflammatory response and should be considered in the differential for facial and periorbital granulomas in patients with a history of silicone breast implants. Management of disseminated silicone granulomatosis is challenging and requires multimodal treatment with silicone removal and systemic immunomodulation.