clinical features

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The characteristic clinical features of tuberous sclerosis are:

  • mental retardation and epilepsy, particularly infantile spasms
  • numerous pink or red-brown papules on the face, mostly the nose and nasolabial folds - referred to as adenoma sebaceum but rigorously are hamartomas of connective tissue and small blood vessels with only passive involvement of sebaceous glands; usually appear at between 5 to 10 years

Other common features:

  • irregularly coarsened skin over the sacrum - shagreen patch - a connective tissue naevus
  • periungal - nail fold - fibromas; usually at puberty
  • oval hypopigmented macules - ash leaf macules - best seen with Wood's (UV) light; often present at birth and the earliest cutaneous indication; in 85% of cases
  • retinal phakomata - in 50% of cases
  • cardiac rhabdomyoma - in 50% of cases
  • pulmonary and renal hamartomas
  • cysts of pleura and lungs, bone cysts in digits
  • on CT scan, periventricular hamartomas and intracranial calcification

Less frequently seen are:

  • gingival fibromas
  • cafe au lait spots
  • port wine haemangiomas
  • malignant brain tumours

Last reviewed 01/2018