Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.

BACKGROUND Encephalocraniocutaneous lipomatosis is a rare neurocutaneous disorder characterized by cutaneous, ocular, and central nervous system anomalies; its molecular etiology was recently identified. This report describes the surgical treatment and genetic characterization of a giant ocular lipodermoid cyst secondary to encephalocraniocutaneous lipomatosis. CASE REPORT An 11-year-old girl with past medical history of absence seizures presented with a reddish protruding mass in her right eye involving the temporal conjunctiva and the peripheral temporal cornea; eyelid closure was not possible due to mass protrusion. She also presented skin tags at the level of the external canthus and 3 alopecic areas at the level of the scalp compatible with nevus psiloliparus. No family history was reported. A dermoid cyst was suspected and excisional biopsy was performed under general anesthesia. A large conjunctival and lamellar corneoscleral resection was done, followed by a corneal tectonic graft. Molecular analysis was carried out, including PCR and Sanger sequencing on DNA obtained from the mass. After surgery, the patient achieved complete eyelid closure, reduction of ocular surface symptoms, and improved aesthetic appearance. Histological analysis confirmed a lipodermoid cyst; genetic tests confirmed a mosaic activating mutation in FGFR1 (c.1638C>A, p.Asn546Lys). The diagnosis was encephalocraniocutaneous lipomatosis. CONCLUSIONS ECCL is a rare condition; an accurate diagnosis comprising clinical and genetic aspects can facilitate the monitoring of possible complications, improve the multidisciplinary treatment, and provide valuable information for future therapy developments. In this case, the patient's quality of life improved significantly, ocular symptoms disappeared, and a good esthetic appearance was achieved.

Toxic Anterior Segment Syndrome: Inadvertent Administration of Intracameral Lidocaine 1% and Phenylephrine 2.5% Preserved With 10% Benzalkonium Chloride During Cataract Surgery.

PURPOSE: To report 3 patients with corneal decompensation and anterior uveitis within 24 hours of cataract surgery from a single ambulatory surgery center using intracameral lidocaine HCl 1% and phenylephrine 2.5% inadvertently preserved with 10% benzalkonium chloride. METHODS: This case series describes 3 patients who underwent traditional cataract extraction with a significant decrease in visual acuity in the immediate postoperative period resulting in secondary surgical intervention for corneal decompensation in 2 patients. RESULTS: All 3 patients experienced a dramatic decrease in visual acuity on the day of surgery, ranging from 20/400 to light perception. They were treated with topical steroids and sodium chloride, with stabilization of vision at 20/60 in 1 patient. The remaining 2 patients did not recover with medical management. One underwent Descemet stripping automated endothelial keratoplasty with placement of the corneal graft on top of Descemet membrane, which could not be removed secondary to extensive fibrosis. The third patient underwent penetrating keratoplasty secondary to deep corneal scarring. CONCLUSIONS: This is the first case series of toxic anterior segment syndrome occurring secondary to the use of benzalkonium chloride-preserved intracameral lidocaine and phenylephrine. Clinicians should remain alert to this phenomenon, and should refrain from using intracameral preservatives during cataract surgery.

Conjunctival Intraepithelial Neoplasia with Mucoepidermoid Differentiation: A Case Report of a Subtle Lesion.

OBJECTIVE: To describe the clinical presentation, diagnostic imaging, and treatment options of conjunctival intraepithelial neoplasia (CIN) with mucoepidermoid differentiation, an in situ stage of mucoepidermoid carcinoma of the conjunctiva (MCC). RESULTS: We report the case of an 86-year-old man presenting with a subtle limbal lesion that had only mild erythema and elevation. Based on a few atypical clinical features and an abnormal ultrahigh-resolution optical coherence tomography (UHR OCT), an incisional biopsy was performed revealing CIN with mucoepidermoid differentiation. Treatment involved aggressive surgical excision. No evidence of recurrence was noted in the 5 years of follow-up. CONCLUSION: MCC is an aggressive tumor that has a tendency to be invasive and recur after treatment. Therefore, early diagnosis and treatment is critical. CIN with mucoepidermoid differentiation may represent the earliest stage of MCC. It can present subtly, with a clinical resemblance to benign and less aggressive ocular surface lesions. Imaging with UHR OCT may be helpful to detect early neoplasia. A high level of suspicion must be maintained when evaluating potential ocular surface tumors.

Tapioca melanoma of the iris without iris heterochromia.

PURPOSE: A case of a teenage girl with tapioca melanoma of the iris is presented. This case is unusual, as the patient did not have heterochromia and did not present with elevated intraocular pressure. CASE REPORT: A 14-year-old female patient presented with an amelanotic, multinodular, multifocal lesion of the right iris. Pathology confirmed a diagnosis of tapioca melanoma using immunohistologic staining. The patient underwent enucleation of her right eye and has been free of metastatic disease 3 years later. CONCLUSIONS: Tapioca melanoma of the iris must be included among the other differential diagnoses when examining patients with amelanotic iris lesions, even when iris heterochromia is not clearly evident.