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[1]
Major Features
Location Sign Onset[2] 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[3]


References

  1. Roach E, Sparagana S (2004). "Diagnosis of tuberous sclerosis complex". Journal of Child Neurology. 19 (9): 643–9. PMID 15563009.
  2. Crino P, Nathanson K, Henske E (2006). "The Tuberous Sclerosis Complex". New England Journal of Medicine. 355 (13): 1345–56. PMID 17005952.
  3. Curatolo (2003), chapter: "Diagnostic Criteria".

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