What are the signs and symptoms of tuberous sclerosis?
Tuberous sclerosis (TS) is characterised by hamartomas in many organs, but particularly the skin, brain, eye, kidney and heart. Hamartomas are non-cancerous malformations composed of overgrowth of the cells and tissues that normally
occur in the affected area and include naevi (birthmarks).
Skin lesions, epileptic seizures and developmental delay/behavioural problems are the main features of TSC. However, individuals with the condition may be affected in many different ways and with differing degrees of severity. Some patients may have very few or no symptoms at all, whilst others may be severely affected with a multitude of symptoms.
Severely affected people may develop heart tumors (rhabdomyoma) or seizures shortly after birth that are characterized by infantile spasms (hypsarrhythmia). Later seizures tend to be myoclonic. Mental retardation becomes evident as infants begin to miss their normal developmental milestones.
Several different skin lesions are common in tuberous sclerosis. "Ash leafs" are depigmented or hypopigmented (lacking normal skin color) white lesions that have the shape or appearance of an ash leaf and may appear anywhere on the body. Shagreen patches: These appear on the lower back as raised patches of skin with an orange-peel texture. Adenoma sebaceum: These lesions include red, highly vascular, lumps on the face that may resemble irritated acne. These enlarge with age and may run together (become confluent) to form larger patches.