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