Diagnostic Criteria for Tuberous Sclerosis

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

To read more or access our algorithms and calculators, please log in or register.