Nodular fasciitis of the periorbital soft tissue in an adolescent confirmed by USP6 gene rearrangement.

Nodular fasciitis is a benign, idiopathic condition that can simulate both benign and malignant neoplasms. In adults, it generally occurs in the subcutaneous or superficial fascia of the trunk or upper extremities; occurrence in the periorbital region is far less common. We describe a case of a 16-year-old male with a 4-month history of a nodular, non-tender, progressively enlarging mass of the superotemporal periorbita. Histopathologic analysis of the excisional biopsy demonstrated nodular fasciitis, confirmed by molecular cytogenetic analysis that showed rearrangement of USP6.

Primary Atypical Lipomatous Tumor of the Orbit: A Case Report.

PURPOSE: To describe a case of primary atypical orbital lipomatous tumor (ALT). CASE REPORT: A 35-year-old man presented with a two-month history of left eye proptosis and vertical diplopia. His visual acuity was 20/30 OD and 20/60 OS. External examination showed proptosis and downward displacement of the left eye with mild lid erythema. Extraocular movements were reduced in the left eye, with 10% and 70% motility in upgaze and abduction/adduction, respectively. Imaging showed a mass (22 × 16 × 46 mm) in the superior left orbit that infiltrated the orbital fat and the superior rectus muscle. A biopsy of the mass showed mature adipose tissue intermingled with fibrous zones of hyperchromatic stromal cells with nuclear atypia. Fluorescence in situ hybridization analysis demonstrated positive amplification for MDM2/CEP12. The MDM2 to CEP12 ratio was 5:7. A diagnosis of ALT was confirmed. An orbital exenteration was recommended, which the patient declined. CONCLUSION: Although rare, the differential for unilateral proptosis with or without diplopia should include orbital liposarcomas including the ALT subtype. Imaging, biopsy, staining, and/or FISH analysis for proto-oncogenes can assist with diagnosis and staging, while the standard treatment is exenteration.

An Unusual Case of Blepharochalasis.

PURPOSE: To describe a rare case of blepharochalasis that progressed from unilateral to bilateral involvement at five years after disease onset. CASE REPORT: A previously healthy five-year-old white boy presented to our hospital for a screening visual examination. He was found to have a 2-mm right eyelid ptosis with crepe-like skin and subcutaneous telangiectatic vessels. His mother noted that since the age of three, the child has been having two to seven day-long episodes of right upper eyelid swelling and edema with tenderness. The episodes eventually progressed to involving the left eyelid as well. Oral steroid taper was found to effectively resolve these exacerbations, and a diagnosis of blepharochalasis was made. CONCLUSION: Blepharochalasis should be in the differential diagnosis for young children presenting with unilateral or bilateral ptosis with periorbital skin abnormalities.

A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33.

A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33.

A case report of primary orbital non-Hodgkin's lymphoma causing complete vision loss.

A 29-year-old male with acquired immunodeficiency syndrome presented with a week of left eye blurriness, which then progressed to complete vision loss. On exam, the left pupil was nonreactive to light, and fundoscopy showed significant optic nerve edema. CT and MRI of the left orbit showed a mass lesion compressing the posterior aspect of the sclera with diffuse thickening and contrast enhancement of the retrobulbar portion of the left optic nerve. The lesion demonstrated low T1 and intermediate T2 intensities and heterogeneous contrast enhancement and measured 17.4 mm x 15 mm x 10.6 mm. Anterior orbitotomy with exploration and biopsy were performed. Immunohistochemical studies confirmed diffuse large B-cell lymphoma and a workup showed no systemic involvement. Plans for treatment with chemotherapy and radiation were initiated. Even though rare, primary orbital NHL should be in the differential for relatively acute blindness without other symptoms, especially in patients with AIDS.

Effects of Rho Kinase Inhibitors on Intraocular Pressure and Aqueous Humor Dynamics in Nonhuman Primates and Rabbits.

PURPOSE: This study examines the effects of 2 Rho kinase inhibitors on intraocular pressure (IOP) and aqueous humor dynamics. METHODS: IOPs of New Zealand albino rabbits with ocular normotension and cynomolgus macaques (nonhuman primate, NHP) with chronic unilateral laser-induced glaucoma were measured at baseline and periodically after a 9 a.m. dose of H-1152, Y-27632, or vehicle. In a separate group of NHPs, aqueous flow, outflow facility, uveoscleral outflow, and IOP were determined after treatment with Y-27632 or vehicle control. RESULTS: Decreases in IOP were found in rabbits (n = 5) at 6 h after one dose of 2% Y-27632 (29%, P = 0.0002) or 1% H-1152 (35%, P = 0.0001), and in hypertensive eyes of NHPs (n = 7-9) at 3 h after one dose of 2% Y-27632 (35%, P = 0.005) or 1% H-1152 (51%, P = 0.0003). With 2 doses of 1% Y-27632 or vehicle in NHP hypertensive eyes (n = 12), significant drug effects were IOP reduction of 28% (P = 0.05) at 2.5 h after the second dose and increases in aqueous flow (36%; P = 0.013), uveoscleral outflow (59%, P = 0.008), and outflow facility (40%; P = 0.01). In normotensive eyes of the same animals, aqueous flow increased by 21% (P = 0.03). No significant change was found in any of the other parameters. CONCLUSIONS: Y-27632 and H-1152 lower IOP in rabbits and hypertensive eyes of NHPs for at least 6 h after single doses. The Y-27632 effect on IOP in hypertensive NHP eyes is caused by increases in outflow facility and uveoscleral outflow. An increase in aqueous humor formation attenuates but does not prevent an IOP decrease.

Primary Cutaneous Coccidioidomycosis of the Eyelid: A Case Report.

A 33-year-old man presented with an ulcerated nodule on his left eyelid and eyebrow that was unresponsive to broad-spectrum antibiotics. Incisional biopsies were performed, and cultures were positive for Coccidioides immitis. An extensive work-up revealed no systemic involve ment of disseminated coccidioidomycosis. The patient was treated with oral itraconazole for 6 months with resolution of the lesion. Few cases of primary cutaneous coccidioidomycosis have been reported. The authors describe a primary cutaneous coccidioidomycosis lesion of the eyelid without disseminated disease.

Primary synovial osteochondromatosis in the ankle: a case report.

Primary synovial osteochondromatosis results from the metaplasia of synovial tissue into cartilaginous tissue. This cartilaginous tissue then undergoes calcification and ossification, producing multiple osteochondral nodules. The cause of the metaplasia is unknown. Primary synovial osteochondromatosis is relatively rare and less common than secondary synovial osteochondromatosis. The primary form of the disease arises from the articular or tendon sheath synovium, whereas the secondary form is fragmented articular cartilage within the joint space. Primary synovial osteochondromatosis most commonly occurs in people aged 30 to 40 years and is more prevalent in men. Symptoms include pain, swelling, and decreased range of motion. Because of their abundance of synovial tissue, larger joints are more likely to be affected than smaller joints. Knees are the most commonly affected joints, followed by, in no specific order, shoulders, hips, and elbows. The ankle and the joints of the hand are seldomly involved. In the early stage of the disease, only active synovitis is present, and radiographs are negative. In the late stage, loose bodies can be detected on radiographs. Grossly, these bodies are consistent with ossified nodules. Microscopically, the nodules are composed of cartilaginous material lined by synovial tissue with a central area of calcification.