Tuberous Sclerosis


Tuberous sclerosis is a syndrome affecting multiple organ systems. 

-it is characterized by the triad of adenoma sebaceum, epilepsy, and mental retardation

-it is a genetic disorder; an autosomal dominant disease due to deletions on chromosome 9 (TSC1 gene) or 16 (TSC2 gene).

Symptoms & signs

-Tuberous sclerosis has a wide spectrum of disease: asymptomatic with only skin findings to cardiac, renal and nervous system manifestations 

Dermatologic manifestations:

Hypomelanotic macules causing hypopigmented regions of skin (Ash-leaf or thumb print spots), facial angiofibromas, ungual fibromas, shagreen patches (Connective tissue nevi skin-colored plaques), adenoma sebaceum.

Adenoma sebaceum (angiofibromas): flesh-colored papules with a butterfly distribution on the nose and malar area; they can also occur in the subungual and periungual areas. 

Neurologic features: seizures, dysmyelinating white matter lesions or cortical tubers, mental retardation

Eye: retinal hamartomas 

Skeletal lesions: Cystic rarefactions in the fingers or toes 

Renal lesions: Renal cysts, Hematuria, Obstruction of urine flow 

Cardiovascular manifestations: rhabdomyomas of the heart, conduction defects

Lungs: Cystic lung disease 


Wood’s (ultraviolet) light exam: Ashleaf-shaped hypopigmented ovals can be present on the skin 

Plain Radiographs:  thickening within the skull, spine, and pelvis; cystic lesions in the hands and feet 

Chest radiographs: Lung honeycombing 

MRI or CT: nodular calcifications  “tubers” or gliomas of the brain

EEG: patients at risk of seizures 

EKG: may show dysrhythmias.

Genetic tests: may reveal mutations in TSCS1 or TSCS 2 genes.


Infantile spasms: Corticotropin (ACTH) 

Skin lesions: Skin lesions on the face may need dermabrasion or laser 


Seizures: Antiepileptic drugs, epileptic surgery 

  1. What is the most common kidney finding in TS? Angiomyolipomas. 
  2. What is the most common location of shagreen patch?  on the lower back to sacral region
  3. What is the characteristic cardiac feature of TS? Rhabdomyoma.


It is a progressive disorder; neurologic disease is the most common cause of death

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