IMPORTANCE Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations. OBJECTIVE To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge-Weber syndrome. DESIGN, SETTING, AND PARTICIPANT Using laser-capture microdissection, choroidal blood vessels were isolated from paraffin-embedded tissue sections, and genomic DNA was extracted for mutational analysis. Choroidal sections were analyzed in parallel. A patient with choroidal hemangioma and Sturge-Weber syndrome who had undergone enucleation was analyzed in this study at Boston Children’s Hospital. Negative controls were choroidal tissue from an eye with retinoblastoma and unaffected lung tissue; brain tissue from a different patient with Sturge-Weber syndrome served as a positive control. Infantile hemangioma was analyzed as well. Data were analyzed in 2018. MAIN OUTCOMES AND MEASURES The mutant allelic frequency of GNAQ R183 and GNAQ Q209L/H/P was determined by droplet digital polymerase chain reaction on isolated genomic DNA. The infantile hemangioma marker glucose transporter-1 was visualized by immunofluorescent staining of tissue sections. RESULTS The GNAQ R183Q mutation was present in the patient’s choroidal vessels (21.1%) at a frequency similar to that found in brain tissue from a different patient with Sturge-Weber syndrome (25.1%). In contrast, choroidal vessels from a case of retinoblastoma were negative for the mutation (0.5%), as was lung tissue (0.2%). The patient’s choroidal tissue was negative for the 3 GNAQ mutations associated with congenital hemangioma and for the infantile hemangioma marker glucose transporter-1. CONCLUSIONS AND RELEVANCE The results suggest that a more accurate description for choroidal hemangioma in patients with Sturge-Weber syndrome is choroidal capillary malformation. This finding may explain why propranolol, used to treat infantile hemangiomas, has been largely ineffective in patients with choroidal hemangioma. Further studies are needed to corroborate this finding.

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Extramedullary adrenal plasmacytoma (EMP) involving the adrenal glands is rarely encountered clinically. We report a A 47-year-old male who presented with bilateral adrenal incidentalomas. After confirming EMP, the patient received two consecutive autologous hematopoietic stem cell transplants (HSCT) using high-dose melphalan. Following HSCT, a serial follow-up helical CT revealed a substantial decrease in the size of both adrenal masses. Serial periodic serum protein and urine electrophoresis and immunofixation showed abrogation of a previously noted monoclonal band. At 50 months follow-up the patient was alive and well. Our patient is the first with EMP to have received an autologous HSCT, which may prove to have a role in therapy due to the immunological effect of the infused donor marrow T-lymphocytes against the clonal proliferation of abnormal plasma cells in extrammedullary sites.This case indicates that an EMP should be added to the differential diagnosis of adrenal incidentalomas.

Propranolol commonly is used to treat lesions other than IH; misdiagnosis of a lesion as IH is a common cause. Propranolol should be used with caution to treat other types of vascular anomalies because patients are subjected to the risks of the drug without data supporting its efficacy.

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