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 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