Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report.

PURPOSE: The authors aim to describe the ophthalmologic manifestations of pediatric Erdheim-Chester disease (ECD). METHODS: The authors describe a novel case of ECD presenting as isolated bilateral proptosis in a child and provide a comprehensive review of the documented pediatric cases to observe overall trends and ophthalmic manifestations of disease. Twenty pediatric cases were identified in the literature. RESULTS: The mean age at presentation was 9.6 years (1.8-17 years) with a mean time of symptom presentation to diagnosis of 1.6 years (0-6 years). Nine patients (45%) had ophthalmic involvement at diagnosis, 4 who presented with ophthalmic complaints: 3 with observable proptosis and 1 with diplopia. Other ophthalmic abnormalities included eyelid findings of a maculopapular rash with central atrophy on the eyelids and bilateral xanthelasmas, neuro-ophthalmologic findings of a right hemifacial palsy accompanied by bilateral optic atrophy and diplopia, and imaging findings of orbital bone and enhancing chiasmal lesions. No intraocular involvement was described, and visual acuity was not reported in most cases. CONCLUSIONS: Ophthalmic involvement occurs in almost half of documented pediatric cases. Typically presenting with other symptoms, the case highlights that isolated exophthalmos may be the only clinical sign, and ECD should be included in the differential diagnosis of bilateral exophthalmos in children. Ophthalmologists may be the first to evaluate these patients, and a high index of suspicion and an understanding of the varied clinical, radiographic, pathologic, and molecular findings are critical for prompt diagnosis and treatment of this unusual disease.

Conjunctival Melanoma: Current Treatments and Future Options.

Conjunctival melanoma is a rare tumor of the conjunctival epithelium with a heterogenous clinical presentation and a propensity for regional and distant metastatic spread. Guidelines for the treatment of local conjunctival melanoma are well-established, but there are no standard efficacious therapies for metastatic disease. Given that conjunctival melanoma is genetically similar to cutaneous melanoma and mucosal melanomas, targeted therapies effective in the treatment of these diseases, such as BRAF inhibitors and KIT inhibitors, may be effective in the treatment of patients with metastatic conjunctival melanoma. Other targeted small-molecule drugs in the drug development pipeline for the treatment of more prevalent melanomas could also be applicable to conjunctival melanoma. Furthermore, systemic immunotherapy treatments that are now a mainstay in the treatment of cutaneous melanoma, such as programmed cell death-1 and cytotoxic T lymphocyte-associated antigen-4 inhibitors, could also stand to benefit patients with metastatic conjunctival melanoma. Limited case reports provide clues about the effectiveness of both targeted small-molecule inhibitors and immunotherapy in patients with advanced local and metastatic conjunctival melanoma and give credence to the argument that conjunctival melanoma patients should be included in major trials studying new therapies in both cutaneous and mucosal melanomas where applicable.

Laparoscopic adrenalectomy for metastatic disease: Retrospective cohort with long-term, comprehensive follow-up.

BACKGROUND: Several malignancies metastasize to the adrenal gland, especially non-small cell lung cancer, renal cell carcinoma, and melanoma. Adrenalectomy is associated with prolonged survival, but laparoscopic adrenalectomy for this indication is controversial. Our objective was to characterize and quantify outcomes after laparoscopic adrenalectomy for metastases to the adrenal gland. METHODS: A prospectively maintained surgical database and institutional cancer registry were queried for patients who underwent adrenalectomy for metastases. From 1995 to 2016, a total of 62 patients underwent adrenalectomy for metastases, with 59 (95.%) having been performed laparoscopically. Primary end points were cumulative probability of 5-year survival and median survival. Patients in the institutional series were compared with Surveillance, Epidemiology, and End Results patients with metastatic non-small cell lung cancer, renal cell carcinoma, and melanoma. RESULTS: There were no deaths within a 30-day period, 6 complications, and 2 conversions to open adrenalectomy. Non-small cell lung cancer (N = 20), renal cell carcinoma (N = 14), and melanoma (N = 8) were the 3 most common adrenal metastases. Overall, cumulative probability of 5-year survival was 37% and median survival was 34 months (95% CI 26-53 months). Median survival for non-small cell lung cancer was 26 months, for renal cell carcinoma was 67 months, and for melanoma was 30 months (P = NS). There was no demonstrable survival benefit for metachronous versus synchronous presentations, no association with size or disease-free interval, nor the presence/history of other metastases. CONCLUSION: Laparoscopic adrenalectomy for metastases is safe when performed by experienced surgeons. Outcomes are similar or improved compared with series with predominantly open adrenalectomies. Patients selected for laparoscopic adrenalectomy to treat metastatic disease also have prolonged survival compared with Surveillance, Epidemiology, and End Results patients with metastatic non-small cell lung cancer, renal cell carcinoma, or melanoma who do not undergo resection of metastatic disease.