clinical features
Last reviewed 01/2018
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
mental retardation (term that has been replaced by intellectual developmental disorder)