Tuberous sclerosis

Definition

A variably expressed autosomal dominant disorder due to a gene or chromosome, causing hamartomata of the brain, eye, kidney and heart associated with specific cutaneous abnormalities and sometimes with epilepsy and mental retardation.

Characteristics

Symptoms

usually a rash on the face

Signs and distribution

	Signs	Distribution
Angiofibromata	firm discrete red-brown smooth-surfaced papules which may coalesce	nasolabial furrows, cheeks, nose, chin (usually appear from early childhood onwards)
Shagreen patch (connective tissue naevus)	soft flesh-coloured plaque	often over lumbar sacral region
Ovoid (ash-leaf) macule	a small ovoid off-white patch	on trunk or limbs (the earliest physical sign often present at birth)
Periungual fibroma	a smooth, flesh-coloured outgrowth	from the nail fold

Associations

Non-cutaneous associations of tuberous sclerosis
mental deficiency epilepsy cardiac rhabdomyomata renal angiomyolipomata endocrine abnormalities ocular irregularities

Diagnosis

clinical
Wood's light examination for ash-leaf macules
family history
ocular and other systemic findings including epilepsy

Differential diagnosis

other facial eruptions (especially papular)

Management

of the disease
lasers for angiofibromata