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This patient is a 9-year-old girl who had a diagnosis of tuberous sclerosis complex (TSC), based on clinical features (facial angiofibromas, hypomelanotic macules and cortical dysplasia). She had a swollen left ring finger, which has become more evident as she grew older. The swelling has been proportionally increasing with her size. It has not limited her function.
TSC is a neurogenetic condition caused by mutations in the tumour suppressor …