Clinical features

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