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
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
- What is the most common kidney finding in TS? Angiomyolipomas.
- What is the most common location of shagreen patch? on the lower back to sacral region
- What is the characteristic cardiac feature of TS? Rhabdomyoma.
It is a progressive disorder; neurologic disease is the most common cause of death