[P114] Fibrous plaque of the eyelid in a patient with tuberous sclerosis complex responding to everolimus = [P114] Fibrous plaque of the eyelid in a patient with tuberous sclerosis complex responding to everolimus

다국어 초록 (Multilingual Abstract)

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome with variable expression In recent years, various studies have reported that topical rapamycin can induce regression of angiofibroma. Everolimus, another derivative of sirolimus, works as an inhibitor of mammalian target of rapamycin, inhibiting tumorigenesis and angiogenesis. Herein, we report a compelling case of TSC with an eyelid showing mild improvement after treatment with systemic everolimus. A 5-year-old girl presented with a erythematous indurated plaque of the left lower eyelid. The patient was diagnosed with TSC at 28 months of age; when she presented with seizure, developmental delay, multiple subcortical tubers in the bilateral cerebral hemisphere, subependymal nodule with internal calcification suspicious of subependymal giant cell astrocytoma at the left lateral ventricle, and angiomyolipomas in both kidneys. On genetic testing, she was found to have the TSC2 mutation. Histological examination of an eyelid was consistent with fibrous plaque. She was treated with oral everolimus for subependymal giant cell astrocytoma, and then fibrous plaque showed reduced thickness and erythema gradually during 14 month follow-up. To the best of our knowledge, reports of unusual eyelid lesions in TSC have been rare. In addition, this case suggests that everolimus may be an effective treatment for fibrous facial plaques as well as angiofibromas and shagreen patches.