Tuberous sclerosis

Tuberous sclerosis

Tuberous sclerosis (TS) is a genetic condition of autosomal dominant inheritance. Like neurofibromatosis, the majority of features seen in TS are neurocutaneous.

Cutaneous features

• depigmented 'ash-leaf' spots
  Tuberous sclerosis - depigmented 'ash-leaf' spots
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  Importance: 14
  which fluoresce under UV light
• roughened patches of skin over lumbar spine (Shagreen patches)
  Tuberous sclerosis - roughened patches of skin over lumbar spine (Shagreen patches)
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  Importance: 1
• adenoma sebaceum
  Tuberous sclerosis - adenoma sebaceum
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  Importance: 13
  (angiofibromas): butterfly distribution over nose
• fibromata beneath nails (subungual fibromata
  Tuberous sclerosis - subungual fibromata
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  Importance: 23
  )
• cafe-au-lait spots
  Tuberous sclerosis - cafe-au-lait spots
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  Importance: 13
  * may be seen

Neurological features

• developmental delay
• epilepsy
  Tuberous sclerosis - epilepsy
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  Importance: 21
  (infantile spasms or partial)
• intellectual impairment
  Tuberous sclerosis - learning difficulties
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  Importance: 23

Also

• retinal hamartomas
  Tuberous sclerosis - retinal hamartomas
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  Importance: 21
  : dense white areas on retina (phakomata)
• rhabdomyomas of the heart
  Tuberous sclerosis - retinal hamartomas
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  Importance: 21
• gliomatous changes can occur in the brain lesions
• polycystic kidneys
  Tuberous sclerosis - renal cysts
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  Importance: 29
  , renal angiomyolipomata
  Tuberous sclerosis patients develop renal angiomyolipomata which are prone to haemorrhage
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  Importance: 85
• lymphangioleiomyomatosis: multiple lung cysts

*these of course are more commonly associated with neurofibromatosis. However a 1998 study of 106 children with TS found cafe-au-lait spots in 28% of patients

+PassMedicine Notes

Tuberous sclerosis (TS) is a genetic condition of autosomal dominant inheritance. Like neurofibromatosis, the majority of features seen in TS are neurocutaneous.

Cutaneous features

• depigmented 'ash-leaf' spots which fluoresce under UV light
• roughened patches of skin over lumbar spine (Shagreen patches)
• adenoma sebaceum (angiofibromas): butterfly distribution over nose
• fibromata beneath nails (subungual fibromata)
• cafe-au-lait spots* may be seen

Neurological features

• developmental delay
• epilepsy (infantile spasms or partial)
• intellectual impairment

Also

• retinal hamartomas: dense white areas on retina (phakomata)
• rhabdomyomas of the heart
• gliomatous changes can occur in the brain lesions
• polycystic kidneys, renal angiomyolipomata
• lymphangioleiomyomatosis: multiple lung cysts

pdd911.png Comparison of neurofibromatosis and tuberous sclerosis. Note that whilst they are both autosomal dominant neurocutaneous disorders there is little overlap otherwise

*these of course are more commonly associated with neurofibromatosis. However a 1998 study of 106 children with TS found cafe-au-lait spots in 28% of patients