Frederick A. Jakobiec, Paula Cortes Barrantes, Daniel R. Lefebvre, Tatyana Milman
Over several months, a painless, multinodular, non-erythematous swelling of the deep tissues of his left upper eyelid developed in a 63-year-old man. An excisional biopsy with histopathologic evaluation disclosed a unique sebaceous papilloma within a cyst lined by non-keratinizing squamous epithelium that focally displayed a variably thick, superficial, eosinophilic cuticular layer. Immunohistochemical staining demonstrated that the tumor and its epithelial cystic lining had a profile consistent with Meibomian gland duct epithelium. Adipophilin highlighted cytoplasmic vacuolar lipid positivity. The encapsulation of the lesion, absence of nuclear atypia, and Ki-67 nuclear positivity restricted to the basilar cells established its intrinsically benign nature. The patient’s clinical history was remarkable for pulmonary and colonic carcinomas resected, respectively, 20 years and 8 years earlier. DNA mismatch repair protein expression studies disclosed loss of nuclear immunostaining of MSH6 protein, pointing to the possibility of an underlying rare MSH6 variant of the Muir-Torre syndrome, not yet described in the ophthalmic literature. p16 nuclear positivity was also found in the tumor cells, indicating the possible role of high-risk human papillomavirus as an additional factor in the genesis of the tumor. Genetic evaluation of normal and tumoral tissues in future similar cases will detect if there is an underlying germline mutation versus a somatic mutation limited to the tumor. This will be required to fully establish a predictable linkage with this new subtype of the Muir-Torre syndrome.
Lucio De Maria, Paolo De Sanctis, Megha Tollefson, Samir Mardini, James A. Garrity, Pearse P. Morris, Emily Bendel, Waleed Brinjikji
Percutaneous sclerotherapy is an alternative strategy for the treatment of vascular malformations of the orbital and periorbital regions. The safety and efficacy of sclerotherapy in this setting have not been fully established. We present the results of a systematic review and meta-analysis examining the safety and efficacy of percutaneous sclerotherapy for the treatment of vascular malformations of the orbit. We searched PubMed, MEDLINE, and EMBASE from 2000 to 2018 for studies evaluating the safety and efficacy of percutaneous sclerotherapy for orbital and periorbital vascular malformations. Two independent reviewers selected studies and abstracted data. The primary outcome of this study is the efficacy of sclerotherapy which includes complete response, partial response, or no response to sclerotherapy. Data were analyzed using random-effects meta-analysis. Thirteen studies reporting on 154 patients were included. The rate of complete cure after percutaneous sclerotherapy was 54.9% (95% confidence interval [CI] = 34.2%-75.7%). The rate of emergent decompressive surgery was 3.4% (95% CI = 0.5%-6.2%), and the rate of vision loss was 2.7% (95% CI = 0.1%-5.3%). I2 values were above 50% for most outcomes indicating substantial heterogeneity. Our systematic review and meta-analysis of 13 studies and over 150 patients found that percutaneous sclerotherapy is a safe and effective treatment modality for the treatment of low-flow vascular malformations of the orbit.
Ilse Mombaerts, Ingvild Ramberg, Sarah E. Coupland, Steffen Heegaard
The orbit can harbor mass lesions of various cellular origins. The symptoms vary considerably according to the nature, location, and extent of the disease and include common signs of proptosis, globe displacement, eyelid swelling, and restricted eye motility. Although radiological imaging tools are improving, with each imaging pattern having its own differential diagnosis, orbital mass lesions often pose a diagnostic challenge. To provide an accurate, specific, and sufficiently comprehensive diagnosis, to optimize clinical management and estimate prognosis, pathological examination of a tissue biopsy is essential. Diagnostic orbital tissue biopsy is obtained through a minimally invasive orbitotomy procedure or, in selected cases, fine needle aspiration. The outcome of successful biopsy, however, is centered on its representativeness, processing, and interpretation. Owing to the often small volume of the orbital biopsies, artifacts in the specimens should be limited by careful peroperative tissue handling, fixation, processing, and storage. Some orbital lesions can be characterized on the basis of cytomorphology alone, whereas others need ancillary molecular testing to render the most reliable diagnosis of therapeutic, prognostic, and predictive value. Herein, we review the diagnostic algorithm for orbital mass lesions, using clinical, radiological, and pathological recommendations, and discuss the methods and potential pitfalls in orbital tissue biopsy acquisition and analysis.
Thonnie Rose O. See, Gustav Stålhammar, Hans E. Grossniklaus
Neurothekeomas (NTKs) are benign soft tissue tumors most commonly occurring in the head, neck, and upper extremities of young adults, with a female preponderance. Herein, we report 2 cases of ocular NTK presenting as an orbital mass or chalazion. Both cases underwent excision of the mass with histopathologic diagnosis of cellular NTK. Tumor cells for both cases were immunopositive for smooth muscle actin, microphthalmia-associated transcription factor, and cluster of differentiation 10. S100, human melanoma black 45, and melanoma antigen recognized by t-cell (Melan A) were negative. Both were associated with scattered histiocytes, which were positive for cluster of differentiation 68. To date, including our 2 cases, there have been 22 cases of ocular and periorbital adnexal NTK reported in the English-language literature. Although rare, clinicians should include NTK in their differential diagnosis in patients presenting with a periocular soft tissue tumor.
Kellie R. Satterfield, Christopher B. Chambers
Infantile hemangiomas, otherwise known as infantile capillary hemangiomas, strawberry hemangiomas, or strawberry nevi, are nonmalignant vascular tumors that commonly affect children. The natural disease course typically involves growth for up to a year, followed by regression without treatment over a period of years with no cosmetic or functional sequelae. Less commonly, however, infantile hemangiomas can become a threat to vision or even life depending on location and size of the lesion. In addition, infantile hemangiomas, particularly those involving the face, may be disfiguring and result in lifelong sequelae. β-blockers have become a mainstay of therapy given their relatively low-risk profile and efficacy. Other treatment modalities previously described in the literature include corticosteroids (both intralesional and systemic), imiquimod, vincristine, bleomycin A5, and interferon α. More recently, angiotensin-converting enzyme inhibitors such as captopril have been used. Laser therapy and, less commonly, surgical excision are also available treatment options. We review current recommended management and treatment of capillary hemangiomas and discuss the benefits and risks of all previously reported treatment modalities.
Victoria S. North, Larissa A. Habib, Michael K. Yoon
Merkel cell carcinoma (MCC) is a rare, aggressive tumor of both epithelial and neuroendocrine origin, which carries a mortality rate of up to 40%. MCC tumors typically present as painless, expanding nodules on the sun-exposed skin areas of older, white patients. Eyelid and periocular tumors comprise approximately 2.5% of all cases of MCC and may be mistaken for chalazia or basal cell carcinomas. Immunosuppression is a significant risk factor, particularly in solid-organ–transplant recipients, patients with chronic lymphocytic leukemia, and patients with HIV. Sentinel lymph node biopsy is often used for accurate staging of head and neck MCC. Treatment includes wide local excision, commonly with the addition of radiotherapy for improved locoregional disease control. Historically, adjuvant chemotherapy had been reserved for metastatic disease, but immunotherapy and targeted chemotherapies are currently being investigated for use in primary disease. The clinical characteristics of all available published cases of eyelid MCC are summarized in this article.
Luke Halliday, Paul Ikgan Sia, Dinesh Selva, Bobby S. Korn
A 64-year-old man presented with a 3-month history of diplopia and left-sided proptosis. Examination was significant for impairment of his left second, third, fourth, fifth, sixth, and seventh cranial nerves. Magnetic resonance imaging revealed a left orbital apex and cavernous sinus lesion. However, subtle thickening of his left frontal and supraorbital nerve was not identified until later. A trial of steroids provided minimal effect. Biopsy of the lesion showed a well-differentiated squamous cell carcinoma. The patient was subsequently managed with palliative radiotherapy.
Alan D. Proia, Chad M. McCall, Jane S. Kim, Ilya M. Leyngold
Idiopathic orbital inflammation developed in the right orbit of a woman in her mid-thirties, causing tearing, photophobia, diplopia, altered depth perception, proptosis, and pain on eye movements. Computed tomography disclosed a mass involving the intraconal and extraconal nasal right orbit, extending to the orbital apex with anterior displacement of the globe, effacement of the medial rectus muscle, portions of the fat plane, and the superior oblique muscle, and bone destruction with extension of the mass through the orbital floor into the superior maxillary sinus and through the lamina papyracea into the ethmoid sinus. Orbital biopsy disclosed dense fibrous connective tissue with numerous lymphocytes and macrophages. Immunohistochemical stains supported a diagnosis of idiopathic inflammatory pseudotumor involving the orbit and sinus mucosa. Treatment with a prednisone taper and a retrobulbar injection of triamcinolone acetonide have relieved her symptoms and diminished her proptosis. This patient highlights the rare potential of idiopathic orbital inflammation to erode though bone into adjacent cranial structures.
Norberto Mancera, Keiran S.M. Smalley, Curtis E. Margo
Cutaneous melanoma, a potentially lethal malignancy of the periocular skin, represents only a small proportion of the roughly 87,000 new cases of cutaneous melanoma diagnosed annually in the United States. Most of our understanding of melanoma of the eyelid skin is extrapolated from studies of cutaneous melanoma located elsewhere. Recent years have witnessed major breakthroughs in molecular biology and genomics of cutaneous melanoma, some of which have led to the development of targeted therapies. The molecular insights have also kindled interest in rethinking how cutaneous melanomas are classified and assessed for risk. We provide a synopsis of the epidemiology, histopathologic classification, and clinical experience of eyelid melanoma since 1990 and then review major advances in the molecular biology of cutaneous melanoma, exploring how this impacts our understanding of classification and predicting risk.
Lindsay A. McGrath, Hardeep Singh Mudhar, Sachin M. Salvi
Optic nerve hemangioblastoma is a rare tumor that is usually unilateral and most commonly occurs in the context of von Hippel-Lindau disease. Differential diagnosis is based on clinical history and imaging. Magnetic resonance imaging with gadolinium enhancement is the most useful imaging modality as it can reveal flow voids and an absence of dural attachment, differentiating optic nerve hemangioblastoma from other more commonly encountered optic nerve tumors. Optic nerve hemangioblastoma are usually well-circumscribed vascular lesions composed of stromal cells and vascular endothelial cells. These lesions are diagnosed at a mean age of 37 years and can be asymptomatic, but over time, patients may develop reduction in vision, proptosis, and pain. Surgical excision is well described via orbital, transsphenoidal, or transcranial approaches. Given the risks associated with surgery, a stepwise conservative approach is advocated by most clinicians in the absence of severe symptoms. Although uncommon, this optic nerve tumor should be considered in young patients presenting with pain, proptosis, and optic nerve pallor, with or without a history of von Hippel-Lindau disease.