Tuberous sclerosis is a disease complex that affects multiple organs and which is genetically transmitted.
Inheritance: autosomal dominant, with high penetrance and variable expressivity.
Organs commonly affected: brain, retina, skin, kidneys, heart and lung. Symptoms may be absent if lesions are small and few in number.
Diagnostic Category |
Organ |
Finding |
definitive |
CNS |
cortical tuber |
|
CNS |
subependymal nodules |
|
CNS |
giant cell astrocytomas |
|
retina |
multiple hamartomas |
|
skin |
facial angiofibromas |
|
skin |
ungual fibroma |
|
skin |
fibrous forehead plaque |
|
kidneys |
multiple angiomyolipomas |
presumptive |
retina |
single hamartoma |
|
skin |
confetti-like spots |
|
kidneys |
single angiomyolipoma |
|
heart |
multiple rhabdomyomas |
|
lungs |
lymphangioleiomyomatosis |
|
rectum |
hamartomatous polyps |
suspicious |
CNS |
infantile spasms |
|
CNS |
generalized or partial seizures |
|
skin |
hypomelanotic macules |
|
kidneys |
cysts |
|
heart |
single rhabdomyoma |
|
lungs |
spontaneous pneumothorax (only in females) |
|
lungs |
chylothorax (only in females) |
|
lungs |
honeycomb image (only in females) |
|
teeth |
enamel pits |
|
gingiva |
fibromas |
|
thyroid |
adenoma |
|
adrenal |
angiomyolipoma |
|
gonads |
angiomyolipoma |
|
liver |
angiomyolipoma |
|
bone |
cysts |
|
bone |
osteom thickening |
Definitive diagnosis of tuberous sclerosis complex:
(1) one or more definitive characteristics
(2) two or more presumptive characteristics
(3) one presumptive characteristic plus the presence of a close relative diagnosed with tuberous sclerosis
Presumptive diagnosis of tuberous sclerosis complex:
(1) one presumptive characteristic
(2) one suspicious characteristic plus the presence of a close relative diagnosed with tuberous sclerosis
Specialty: Hematology Oncology, Genetics, Surgery, general