Tuberous Sclerosis

Autosomal dominant condition of variable severity, characterised by a range of benign tumours in various organ systems of the body

Aetiology

• Autosomal dominant but new mutations common
• Chromosomes 9q34 and 16p13.3
• TSC1 and TSC2 (genetic heterogeneity)
• Code for tuberin and hamartin
• Tumour regulating genes are in the same pathway

• Penetrance is variable (but high)

• Disease expression is variable - different people affected differently, even in the same family

Clinical presentation

• May present as infantile seizures

• Earliest cutaneous sign is ash-leaf macules

• Other signs include Shargreen patches and enamel pitting

• Periungual fibromas (around nails)

• Facial angiofibromas (cortical tubers and/or calcification of falx cerebri, may cause seizures)

• Hamartomas/angiomyolipomas (heart, lung, kidneys)

• Bone cysts