Single Institutional Experience on Orbital Inflammatory Pseudotumor: Diagnostic and Management Challenge.

AIMS: Orbital inflammatory pseudotumor is considered a non-neoplastic inflammatory process. The finding of clonality of B or T-cell receptors in cases pathologically diagnosed as orbital inflammatory pseudotumor has unknown clinicopathologic significance. We sought to investigate potential B and T-cell clonality and concomitant diseases in cases pathologically diagnosed as orbital inflammatory pseudotumor. METHODS: Cases diagnosed as orbital inflammatory pseudotumor at our institution were retrospectively analyzed. Hematoxylin and eosinstained slides, immunohistochemically stained slides and polymerase chain reactions on cell block material for the investigation of clonality of B and T-cell receptors were evaluated, to confirm the diagnosis and investigate the prevalence of concomitant diseases. RESULTS: A total of 13 cases showing characteristic histopathologic features of orbital inflammatory pseudotumor were identified. CD138, IgG, and IgG4 showed varying numbers of plasma cells in each case, with 5 cases (5/13, 38%) exhibiting relative increase in the presence of IgG4 plasma cells. However, no cases showed diagnostic findings of IgG4-related disease (IgG4-RD). polymerase chain reactions analysis showed clonal B-cell populations in 2 cases (2/13, 15%). No cases showed anaplastic lymphoma kinase expression by immunohistochemistry. There were no clinical reports of progression to lymphoma or development of systemic IgG4-RD in any of the patients (average follow-up of 300 days), with 38% of patients showing systemic autoimmune conditions. CONCLUSION: A small but significant percentage of typical orbital inflammatory pseudotumor on histology showed B-cell clonality on polymerase chain reactions analysis of B-cell receptors, or features suggestive, but not diagnostic of IgG4-RD. Close follow-up of these patients to identify development of lymphoma, systemic IgG4-RD, or other rheumatologic conditions may be clinically warranted.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. RECENT FINDINGS: The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. SUMMARY: The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.

Orbital 'pseudo-abscess' in a patient with spontaneous subluxation of globe: A case report.

PURPOSE: We describe this case and review the literature, to allow this to be a cautionary tale in the interpretation of fluid collections in the setting of spontaneous globe subluxations (GS). OBSERVATIONS: A 58 year old female, with a past medical history of globe subluxation, was diagnosed radiographically with an orbital abscess, and managed with an orbitotomy. However, no abscess was identified operatively and subsequent imaging showed only extravasation of serous fluid. CONCLUSIONS AND IMPORTANCE: We postulate that in the case here, the fluid collection posterior to the globe was in fact due to increase venous congestion and decrease venous return posteriorly from the globe to the cone, leading to an efflux of clear serous fluid. We postulate that in the case of GS without other clinical indications suggesting orbital abscess one can consider a posterior globe collection of fluid to be an extravasation of serous fluid, secondary to increased venous congestion.

Pigmented Epithelioid Melanocytoma of the Cheek, Orbit, and Intracranial Cavity: A Case Report.

Pigmented epithelioid melanocytoma (PEM) of the skin has been rarely reported in ophthalmology. The purpose of this case report is to present a young male born with a progressive, hyperpigmented lesion involving the orbit and intracranial cavity diagnosed as PEM. The case is unique given the young age and the size, multifocality, and growth of this tumor. Identification of this lesion is paramount due to its low-grade malignant potential.

A misleading frozen section in a lacrimal gland pleomorphic adenoma of a nine-year-old.

INTRODUCTION: Benign pleomorphic adenomas of the lacrimal gland usually present as a painless, slow growing mass in healthy adults and rarely present in childhood. This report describes a pediatric patient found to have a lacrimal gland pleomorphic adenoma that mimicked rhabdomyosarcoma on frozen section. REPORT: A nine-year-old African American male presented with two months of unilateral proptosis and was found to have a left orbital mass on computed topography. Through a lateral orbitotomy, the mass was excised, but noted to appear distinct from the lacrimal gland. An intraoperative frozen section demonstrated a myxoid matrix with scattered cells mimicking rhabdomyoblasts. Because this sample lacked additional elements, the diagnosis of rhabdomyosarcoma could not be excluded, especially considering the patient's age, short time course of symptoms, and the tumor's intraoperative appearance. Permanent sections of the whole lesion provided definitive diagnosis. CONCLUSIONS: In the rare pediatric presentations, pleomorphic adenomas of the lacrimal gland can be difficult to quickly and definitively differentiate from a rhabdomyosarcoma. The unusual age of presentation and the misleading frozen section appearance in this case demonstrate the intricacies of managing pediatric orbital tumors and highlight the importance of permanent sections for definitive diagnosis.

Orbital lymphoma masquerading as panuveitis.

PURPOSE: To describe a case of orbital mucosa-associated lymphoid tissue (MALT) lymphoma masquerading as unilateral panuveitis. METHODS: Retrospective chart review. RESULTS: A 53-year-old female patient with unilateral vitritis and exudative retinal detachment refractory to immunosuppressive treatment was eventually diagnosed with orbital MALT lymphoma. Following treatment with radiotherapy and rituximab, the patient's intraocular inflammation and retinal detachment resolved. CONCLUSIONS: Orbital MALT lymphoma can masquerade as refractory unilateral panuveitis with exudative retinal detachment and appears to respond to a combination of radiotherapy and specific B-cell-targeted systemic therapy.

Recalcitrant granulomatous sclerouveitis in a patient with granulomatous ANCA-associated vasculitis.

PURPOSE: To report an unusual case of granulomatous sclerochoroiditis. DESIGN: Interventional case report. METHODS: A patient with ANCA-associated granulomatous vasculitis presented with nodular necrotizing scleritis, which was recalcitrant to multiple systemic immunosuppressive therapies and progressed to a blind painful eye, which was enucleated. RESULTS: Histopathology revealed extensive occlusive vasculitis, diffuse T- and B- cellular infiltration, and lymphoid granulomatous formation. Enhanced MHC class II antigens, adhesion molecules, and Fas (CD95) and FasL (CD95L) were detected in the lesion. CONCLUSION: Granulomatous sclerochoroiditis with aggressive immune reaction can be a complication of ANCA-associated granulomatous vasculitis.

Ulcerative keratitis in mycosis fungoides.

PURPOSE: To present a case of ulcerative keratitis and impending corneal perforation in a patient with mycosis fungoides (cutaneous T-cell lymphoma) that developed eyelid involvement. METHODS: Case report analysis. Cultures and biopsies of the right cornea, conjunctiva, and eyelids were obtained. Biopsy tissue was examined with histologic and immunohistologic stains. RESULTS: This patient with mycosis fungoides involving the eyelids developed corneal exposure and bacterial keratitis with impending corneal perforation. Lamellar keratoplasty and permanent tarsorrhaphy were performed to protect the globe from perforation. DISCUSSION: Mycosis fungoides involving the eyelids is capable of causing severe ocular tissue injury without direct infiltration of the malignant lymphocytes. Preventative medical and surgical measures must be taken to protect the globe.

Identification of candidate microbial sequences from inflammatory lesion of giant cell arteritis.

Giant cell arteritis (GCA) is a granulomatous inflammatory disease of medium and large arteries which is prevalent in the elderly population. The etiology of GCA is unknown, although the immunologic features suggest the possible presence of a microorganism. Our group has examined whether microbial DNA fragments were present at GCA lesions and whether such microbial fragments could be associated with disease pathogenesis. Initial identification of microbial sequences was performed using genomic representational difference analysis (RDA). Laser dissecting microscopy was used to isolate cells from GCA lesions and adjacent uninvolved temporal artery. Using genomic RDA, we isolated 10 gene fragments; three of these sequences had high homology with prokaryotic genes and were considered high-priority candidates for further study. An examination of serum from GCA(+) individuals (in contrast to healthy age-matched controls) showed the presence of IgG which recognized in vitro translated proteins from these clones.