Overview
Tuberous sclerosis is an autosomal dominant neurocutaneous multisystem disorder that is characterised by the formation of hamartomas in multiple organs, particularly the brain, skin, and kidneys.
Epidemiology
- Incidence is around 1 in 5800
- Equal incidence in both sexes
Presentation
- Dermatological features:
- Ash-leaf spots – hypopigmented macules that fluoresce under UV light
- Shagreen patches – irregular elevated skin-colour patch usually on the lower back
- Facial angiofibromas – red/brown papular rash on the face
- Ungual fibromas
- Some patients may have café-au-lait spots
- Central nervous system:
- Other features:
- Retinal hamartomas
- Renal angiomyolipomata and polycystic kidneys
- Cardiac rhabdomyoma – can be detected antenatally
Differential Diagnoses
Neurofibromatosis (NF)
- Usually has axillary/groin freckles
- Iris hamartomas (Lisch nodules) are present instead of retinal hamartomas
- NF2 may have bilateral vestibular schwannomas
- Café-au-lait spots are seen more often in NF
Investigations
- Brain MRI to look for abnormalities
- MRI for renal lesions
- EEG for epilepsy
- Echocardiography for rhabdomyoma
- Genetic testing
Management
Management is via a multidisciplinary approach, managing conditions that arise e.g. behavioural problems, drugs for specific problems (e.g. epilepsy), surgery for skin lesions/tumours etc.
Complications and Prognosis
Complications
- Epilepsy
- Learning difficulties
- Respiratory failure
- Renal failure
- Arrhythmia
- Psychological problems e.g. depression/anxiety
Prognosis
- Some patients have no changes to their life expectancy, whereas for others it may be decreased
- The most common cause of death is status epilepticus, respiratory failure, or renal failure
