Pilomatrix carcinoma of the lacrimal caruncle: a case report / Carcinoma pilomatricial da carúncula lacrimal: relato de caso

ABSTRACT A 45-year-old man presented with a 3-month history of a mass located in the caruncle of his right eye. An incisional biopsy had been performed one month prior by another specialist, and the histopathology report showed basal cell carcinoma. The mass was completely excised with a 2 mm safety margin, and the large conjunctival defect was reconstructed with one sheet of amniotic membrane allograft. A histological diagnosis of pilomatrix carcinoma was established. To prevent recurrence after surgery, we added bevacizumab (25 mg/mL, 1.25 mg/mL per drop) eye drops four times per day for three months. At the one-year follow-up, the patient showed no evidence of local recurrence or distant metastasis after initial excision and remains under close follow-up. Pilomatrix carcinoma should be considered in the differential diagnosis of a caruncular mass.

RESUMO Um homem de 45 anos apresentou história de massa na carúncula no olho direito durante 3 meses. Uma biópsia incisional foi realizada 1 mês antes por outro especialista e o laudo histopatológico mostrava carcinoma basocelular. A massa foi completamente excisada, com uma margem de segurança de 2 mm, e a grande lesão conjuntival foi reconstruída com uma folha de aloenxerto de membrana amniótica. Foi estabelecido um diagnóstico histológico de carcinoma pilomatricial. Para evitar a recorrência após a cirurgia, adicionamos colírio de bevacizumabe (25 mg/mL, 1,25 mg/mL por gota) quatro vezes ao dia durante três meses. No seguimento de 1 ano, o paciente não apresentou evidência de recidiva local ou metástase distante após a excisão inicial e continua sob acompanhamento próximo. O carcinoma pilomatricial deve ser considerado no diagnóstico diferencial de uma massa caruncular.

The role of intravitreal chemotherapy for retinoblastoma.

Targeted therapy in retinoblastoma (RB) is widely accepted as the current management tool with an aim of increasing drug availability at the tumor location. Inevitably the effect is several times higher compared to systemic delivery of chemotherapeutic drugs and carries less systemic toxicity. Despite tremendous advancement in saving life, eye salvage in advanced RB especially with active vitreous seeds remains a challenge. The hypoxic environment of the vitreous and reduced vitreous concentration of the drugs delivered makes these tumor seeds resistant to chemotherapy. Direct delivery of chemotherapeutic drugs into the vitreous cavity aids to overcome these challenges and is progressively being accepted worldwide. However, intraocular procedure in RB was abandoned due to high risk of extraocular tumor dissemination. Recently, the forbidden therapeutic technique was re‑explored and modified for safe use. Although eye salvage rate has tremendously improved after intravitreal chemotherapy (IVitC), retinal toxicity, and vision salvage are yet to be validated. In our preliminary report of intravitreal melphalan in 11 eyes, we reported 100% eye salvage and 0% recurrence with an extended 15 months mean follow‑up. In this review, we analyzed published reports on IVitC in RB via PubMed, Medline, and conference proceedings citation index, electronic database search, without language restriction that included case series and reports of humans and experimental animal eyes with RB receiving IVitC.

Review of spectral domain-enhanced depth imaging optical coherence tomography of tumors of the retina and retinal pigment epithelium in children and adults.

Background: Spectral domain (SD) enhanced depth imaging optical coherence tomography (EDI‑OCT) is a useful tool for anatomic, cross‑sectional imaging of retinal conditions. Aims: The aim was to identify characteristic patterns of retinal and retinal pigment epithelial tumors on EDI‑OCT in children and adults. Settings and Design: Retrospective review. Materials and Methods: Analysis of published reports and personal observations using office‑based EDI‑OCT for adults and portable hand‑held SD OCT for infants and children. Results: Using EDI‑OCT, retinal tumors such as small retinoblastoma, astrocytic hamartoma, and hemangioblastoma arose abruptly from the retina, immediately adjacent to normal retina. Small exophytic retinoblastoma and retinal hemangioblastoma showed the full‑thickness, homogeneous retinal disorganization with surrounding normal retina “draping” over the margins. Retinoblastoma occasionally had intralesional cavities and surrounding subretinal fluid. Hemangioblastoma often had adjacent intraretinal edema and subretinal fluid. Astrocytic hamartoma arose within the nerve fiber layer and sometimes with a “moth‑eaten” or cavitary appearance. Retinal pigment epithelial (RPE) lesions such as congenital hypertrophy of RPE appeared flat with shadowing, occasional subretinal cleft, and abrupt photoreceptor loss. Congenital simple hamartoma showed an abrupt elevation from the inner retina with crisp, dark posterior shadowing. Combined hamartoma of the retina/RPE showed vitreoretinal traction causing “sawtooth mini‑peak” or gently “maxi‑peak” folding of the retina. RPE adenoma often produces remote macular edema or epiretinal membrane and the tumor has an irregular, “rugged” surface with deep shadowing. Conclusions: Enhanced depth imaging optical coherence tomography shows characteristic patterns that are suggestive of certain retinal and RPE tumors.

Choroidal metastases: Origin, features, and therapy.

The choroid is the most common ocular site for metastatic disease, owing to abundant vascular supply. The primary cancers that most commonly lead to choroidal metastases include breast cancer (40-47%) and lung cancer (21-29%). Bilateral, multifocal metastases are most often secondary to breast cancer, whereas unilateral, unifocal metastasis are more commonly found with lung cancer. The treatment of choroidal metastasis depends on the systemic status of the patient and number, location, and laterality of the choroidal tumors. Treatment options include observation in patients with poor systemic status or those with resolved or asymptomatic disease; systemic chemotherapy, immunotherapy, hormone therapy, or whole eye radiotherapy if the metastases are active, multifocal and bilateral; plaque radiotherapy, transpupillary radiotherapy, or photodynamic therapy for active, solitary metastasis; and enucleation for those with blind painful eye. A database search was performed on PubMed, using the terms “choroidal metastasis,” or “choroidal metastases,” in combination with terms such as “treatment,” “features,” or “diagnosis.” Relevant articles were extracted and reviewed.

Review of spectral domain enhanced depth imaging optical coherence tomography of tumors of the choroid.

Background: Spectral domain enhanced depth imaging optical coherence tomography (EDI‑OCT) can provide anatomic localization of intraocular tumors. Aims: The aim was to identify topographical and intrinsic patterns of choroidal tumors on EDI‑OCT. Settings and Design: Retrospective review. Materials and Methods: Analysis of published reports and personal observations using office based EDI‑OCT. Results: Using EDI‑OCT, choroidal nevus displayed a smooth, dome‑shaped topography with overlying retinal pigment epithelium alterations, drusen, and occasional subretinal cleft demonstrating photoreceptor loss. Small choroidal melanoma showed smooth, moderately dome‑shaped topography, commonly with overlying shallow subretinal fluid that often depicted “shaggy” photoreceptors. Choroidal metastasis showed a minimally “lumpy, bumpy” surface topography and with overlying subretinal fluid and shaggy photoreceptors. Choroidal hemangioma showed a smooth, dome‑shaped topography, with expansion of the affected small, medium, and large choroidal vessels. Choroidal lymphoma showed varying topography with increasing tumor thickness as “flat, rippled, or undulating (seasick)” surface. Choroidal osteoma displayed a smooth undulating surface with visible intralesional horizontal lines suggestive of bone lamellae and occasional horizontal and vertical tubules with intralesional “spongy” flecks. Choroidal melanocytosis appeared as uniformly thickened choroid with increased stromal density surrounding the normal choroidal vascular structures. Conclusions: Enhanced depth imaging‑OCT can depict characteristic patterns that are suggestive of various choroidal tumors.

Using risk factors for detection and prognostication of uveal melanoma.

The early detection of malignancy, particularly uveal melanoma, is crucial in protecting visual acuity, salvaging the eye, and preventing metastasis. Risk factors for early detection of uveal melanoma have been clearly delineated in the literature and allow identification of melanoma when it is tiny and simulates a nevus. These factors include thickness >2 mm, presence of subretinal fluid (SRF), symptoms, the orange pigment, margin near optic disc, acoustic hollowness, surrounding halo, and absence of drusen. The importance of early detection is realized when one considers melanoma thickness, as each millimeter increase in melanoma thickness imparts 5% increased risk for metastatic disease. Newer imaging modalities like enhanced depth imaging optical coherence tomography and fundus autoflouroscence facilitate in detection of SRF and orange pigment. Additional molecular biomarkers and cytological features have been identified which can predict the clinical behavior of a small melanocytic lesion. Features that suggest a poor prognosis include higher blood levels of tyrosinase m‑RNA, vascular endothelial growth factor, insulin‑like growth factor; monosomy 3 and gains in chromosome 8. Management of uveal melanoma includes enucleation (for large), local eye wall resection, brachytherapy, charged particle irradiation, and thermotherapy (for small to medium tumors). Although the role of a good clinical evaluation cannot be underestimated, it is advisable to evaluate the various radiological, molecular, and cytological features, to enhance the accuracy of early diagnosis and improved prognosis.

Conjunctival intraepithelial neoplasia with corneal furrow degeneration.

A 68-year-old man presented with redness of left eye since six months. Examination revealed bilateral corneal furrow degeneration. Left eye lesion was suggestive of conjunctival squamous cell carcinoma, encroaching on to cornea. Anterior segment optical coherence tomography (AS-OCT) confirmed peripheral corneal thinning. Fluorescein angiography confirmed intrinsic vascularity of lesion. Patient was managed with “no touch” surgical excision, dry keratectomy without alcohol, cryotherapy, and primary closure. Pathologic examination of removed tissue confirmed clinical diagnosis. Management of this particular case required modification of standard treatment protocol. Unlike the alcohol-assisted technique of tumor dissection described, ethyl alcohol was not used for risk of corneal perforation due to underlying peripheral corneal thinning. Likewise, topical steroids were withheld in the post-operative period. Three weeks postoperatively, left eye was healing well. Hence, per-operative usage of absolute alcohol and post-operative use of topical steroids may be best avoided in such eyes.