Infante-Cossio, Pedro; Infante-Cossio, Monica; Herce-Lopez, Javier; Rollon-Mayordomo, Angel
A 31-year-old man presented with a 6-month history of a progressive enlargement over the medial right supraorbital margin with intermittent dull pain. His ophthalmologist had diagnosed a sebaceous cyst while the lesion had gradually increased in size. Physical examination revealed a firm, movable mass covered by erythematous skin (Fig. 1A). MRI revealed a 2.5-cm well-circumscribed medial right supraorbital mass showing contrast enhancement with a hyperintense central portion on T2-weighted images and hypointense on T1-weighted images (Fig. 1B,C). Through a skin incision hidden in the eyebrow, the tumor was easily removed sparing the eyelid (Fig. 2A). Histologic examination with hematoxylin and eosin stain showed a solid, well-circumscribed tumor, consisting of bundles of spindle-shaped cells. The immunohistochemical study revealed intense positivity for muscle-specific actin and smooth muscle actin. With all these findings, a diagnosis of leiomyoma was made (Fig. 2B). At 5-year follow up, the patient is doing well and has had no recurrence (Fig. 2C). This case is presented to raise awareness of leiomyomas, although it is extremely rare in the periorbital region and difficult to distinguish. The histopathological and immunohistochemical features are essential for diagnosis. While complete excision is the usual outcome, long-term follow up is strongly recommended.
Charles, Norman C.; Patel, Payal; Belinsky, Irina; Oami, Shimon
The authors report 2 cases of apocrine cystadenoma of the eyelid, 1 of which was studied with immunohistochemical and other special stains. While a previous report describes the tumor in a palpebro-orbital location, no other detailed descriptions of a purely eyelid location are present in the literature. Apocrine cystadenoma occupies an unusual portion of the spectrum of Moll gland tumors of the eyelid. It has no definitive clinical characteristics and may be diagnosed pathologically by hematoxylin-eosin–stained sections.
Dunbar, Kristen E.; Kazim, Michael
This is a 38-year-old man referred to the authors’ clinic for a left orbital mass. His symptoms included left-sided retro-orbital pain, binocular diplopia, and left-sided proptosis (Fig. A). His exam revealed best-corrected vision of 20/20 on the right and 20/25 vision on the left. He had marked resistance to retropulsion of the globe on the left, −3 restriction in upgaze, and −2 in all other directions of gaze. He had 10 mm of relative left proptosis. The rest of the exam including color vision, visual field, and dilated exam were within normal limits. Axial MRI scan with T2-weighted imaging and fat saturation (Fig. B) showed a large cystic lesion in the intraconal space circumferential to the optic nerve.
Kini, Ashwini; Syed, Reema; Compton, Christopher; Hata, Jessica L.; Ramasubramanian, Aparna
The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone. To the best of the authors’ knowledge, this is the first reported case of sphenoid wing aplasia secondary to congenital orbital myofibroma independent of neurofibromatosis 1.
Grisolia, Ana Beatriz D.; Nelson, Christine C.
Distichiasis is a challenging condition that may require multiple surgical interventions. Besides ophthalmologic concerns in children, distichiasis may be part of the lymphedema-distichiasis syndrome, which presents with lymphedema of variable time of onset. Other significant systemic disorders such as coarctation of the aorta and varicose veins have been reported in association with this syndrome and must be reviewed for proper patient care. The authors report the case of a 22-year-old male patient who had been treated for distichiasis and followed for 16 years. At his initial evaluation, at 6 years of age, he presented solely with ocular complaints due to distichiasis. Only after 13 years of repeated ophthalmic treatments and continuous follow up, lymphedema was observed. Lymphedema-distichiasis syndrome diagnosis must be considered in children with distichiasis, even in the absence of lymphedema.
Zuazo, Francisca; Astiazaran, Mirena C.; Rodríguez-Cabrera, Lourdes; Garcia-Regil, Patricia; Chacon-Camacho, Oscar; Tovilla-Canales, José L.; Zenteno, Juan C.
Barber-Say syndrome is a rare autosomal dominant disease characterized by dysmorphic features, mainly of the eyelids and skin. It is caused by heterozygous mutations in gene TWIST2, localized in chromosome 2q37.3. The authors present the case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis. Molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis of Barber-Say syndrome. Surgical treatment of the patient’s eyelids resolved her signs and symptoms.
Vahdani, Kaveh; Kim, Yoon-Duck; Suh, Yeon-Lim; Kim, Jeong Hee
Angiomatosis is a complex vascular malformation that denotes a clinically extensive hemangioma, which either involves multiple tissue planes or extensively infiltrates 1 type of tissue. It is a rare condition characterized by diffuse proliferation of blood vessels admixed with fat and fibrotic tissue. Typically, this process involves the limbs in multiple tissue planes, including dermis, subcutis, muscle, and bone. In this report, the authors present the first case of angiomatosis infiltrating the orbit, controlled effectively with a combination of systemic steroids, radiation, and beta-blocker therapy. The characteristic imaging and histologic features and management options are discussed.
Lira, Jennifer; Berry, Duncan E.; Weller, Christopher L.; Proia, Alan D.; Leyngold, Ilya M.
A 5-year-old girl with Aicardi syndrome and microphthalmia with cyst of the OD presented with progressive enlargement of the cyst causing pain. Microophthalmia with inferior cyst (35 × 25 × 12 mm) was noted at birth, and Aicardi syndrome was diagnosed at 10 months by the presence of the classic triad of callosal agenesis, infantile spasms, and chorioretinal lacunae. She underwent enucleation with cyst resection, and subsequent reconstruction with a dermis fat graft. Histopathologic study revealed adenocarcinoma of the pigmented ciliary epithelium. Full-body metastatic workup was negative. Adenocarcinoma of the pigmented ciliary epithelium is an extremely rare eye tumor with only 4 documented cases in the literature, none arising in a microophthalmic eye with cyst. Aicardi syndrome is also a rare disease that has been associated with increased incidence of malignancy and ocular abnormalities, but has never been described in association with microophthalmia with cyst or with adenocarcinoma of the pigmented ciliary epithelium. Herein, the authors present a review of the case and relevant literature.
Ganguly, Anasua Kapoor; Laghimsetty, Srujana; Bhagyalakshmi, Nirupama
Koebner phenomenon is the development of isomorphic pathologic lesions on a wound of a patient with preexisting cutaneous disease, most commonly psoriasis. An elderly male with palmoplantar psoriasis developed periocular psoriasis in the form of blepharitis and conjunctivitis following an external dacryocystorhinostomy as a manifestation of Koebner phenomenon. Immediate diagnosis and treatment with topical steroids led to complete recovery. Thus, the authors report the first case of Koebner phenomenon in ophthalmic literature, with a review of previously published postsurgical cases of Koebnerization in psoriasis patients. All surgeons should be aware of its existence and warn susceptible patients regarding its occurrence.
Thakar, Sudip; Kandl, Thomas; Sagiv, Oded; Tripathy, Devjyoti; Tetzlaff, Michael T.; Kapur, Sahil; Myers, Jeffrey; Hwu, Wen-Jen; Jaber, Bashar M.Y.; Esmaeli, Bita
Desmoplastic melanoma (DM) is a rare subtype of melanoma and an even smaller proportion of periocular melanomas. Here, the authors report 2 cases of DM in the periocular region. Staged according to the American Joint Committee on Cancer (AJCC) eighth edition classification, patient 1 presented with a stage IIIC (pT4apN1cM0) DM in the left lateral canthus with upper and lower eyelid and patient 2 presented with a stage IIIB (T4aN1bM0) DM in the left brow and supraorbital region with a parotid lymph node metastasis. In both patients, the lesions were amelanotic, with inflammatory appearance, and had been noted for several years before the correct diagnosis was made. In both patients, wide excision led to large surgical defects, and perineural invasion prompted adjuvant radiation therapy postoperatively. Patient 2 was treated with an immune checkpoint inhibitor for his parotid metastasis. Ophthalmologists should be aware of DM, its neurotrophic nature, and potential to metastasize with locally advanced lesions.