Tuberous sclerosis


• Two third cases – sporadic, others - Autosomal dominant,

• Multiple, brown, soft, grouped papules present in the perinasal area and cheeks in a butterfly distribution

These are called facial angiofibromas (misnamed as adenoma sebaceum)

• Ungual or subungual fibromas, (Koenen’s tumours) are small fleshy tumours that grow around and under
the toenails or fingernails

• Hypomelanotic macules (‘ash leaf spots’) are white or light coloured patches on skin (only visible sign of
tuberous sclerosis at birth)

• Shagreen patches are areas of thick leathery skin which is dimpled like an orange peel and is usually found
on the lower back or nape of the neck

• Café au lait macules can be seen