Tuberous sclerosis diagnostic criteria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

There are no pathognomonic clinical signs for tuberous sclerosis. Many signs are present in individuals who are healthy (although rarely), or who have another disease. A combination of signs, classified as major or minor, is required in order to establish a clinical diagnosis.

Diagnostic Criteria

Diagnostic Criteria for Tuberous Sclerosis Complex

Major Features
	Location	Sign	Onset	Note
1	Head	Facial angiofibromas or forehead plaque	Infant – adult
2	Fingers and toes	Nontraumatic ungual or periungual fibroma	Adolescent – adult
3	Skin	Hypomelanotic macules	Infant – child	More than three.
4	Skin	Shagreen patch (connective tissue nevus)	Child
5	Brain	Cortical tuber	Fetus
6	Brain	Subependymal nodule	Child – adolescent
7	Brain	Subependymal giant cell astrocytoma	Child – adolescent
8	Eyes	Multiple retinal nodular hamartomas	Infant
9	Heart	Cardiac rhabdomyoma	Fetus	Single or multiple.
10	Lungs	Lymphangiomyomatosis	Adolescent – adult
11	Kidneys	Renal angiomyolipoma	Child – adult	10 and 11 together count as one major feature.
Minor Features
	Location	Sign	Note
12	Teeth	Multiple randomly distributed pits in dental enamel
13	Rectum	Hamartomatous rectal polyps	Histologic confirmation is suggested.
14	Bones	Bone cysts
15	Brain	Cerebral white-matter "migration tracts"	Radiographic confirmation is sufficient. 5 and 15 together count as one major feature.
16	Gums	Gingival fibromas
17	Liver, spleen and other organs	Nonrenal hamartoma	Histologic confirmation is suggested.
18	Eyes	Retinal achromic patch
19	Skin	"Confetti" skin lesions
20	Kidneys	Multiple renal cysts	Histologic confirmation is suggested.

Variability

Individuals with tuberous sclerosis may experience none or all of the clinical signs discussed above. The following table shows the prevalence of some of the clinical signs in individuals diagnosed with tuberous sclerosis.

The various signs are then marked against the diagnostic criteria to produce a level of diagnostic certainty:

• Definite – Either two major features or one major feature plus two minor features.
• Probable – One major plus one minor feature.
• Suspect – Either one major feature or two or more minor features.

The frequency of clinical signs in children with tuberous sclerosis, grouped by age