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Musculoskeletal involvement in tuberous sclerosis
  1. Sam Amin1,
  2. Kirsten Slaney2,
  3. Finbar J O'Callaghan3
  1. 1University Hospitals Bristol NHS Foundation Trust, Bristol, UK
  2. 2Paediatric Department, Royal United Hospital, Bath, UK
  3. 3Clinical Neurosciences Section, Institute of Child Health, University College London, London, UK
  1. Correspondence to Dr Sam Amin, University Hospitals Bristol NHS Foundation Trust, Education Centre, Level 6, Upper Maudlin Street, Bristol, UK; sam.amin.14{at}ucl.ac.uk

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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 …

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