Tuberous sclerosis diagnostic criteria
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]
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
Diagnosis is made according to the following criteria:
- 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.
| Updated diagnostic criteria for tuberous sclerosis complex 2012[1] | |
|---|---|
| Major Features | Minor Features |
| Hypomelanotic macules (> or more at least 5mm diameter) | "Confetti" skin lesions |
| Angiofibromas (>3 or more) or fibrous cephalic plaque | Dental enamel pits (>3) |
| Ungual fibromas (>2 or more) | Intraoral fibromas (>2 or more) |
| Shagreen patch | Retinal achromic patch |
| Multiple retinal hamartomas | Multiple renal cysts |
| Cortical dysplasias** | Nonrenal hamartomas |
| Subependymal nodules | |
| Subependymal giant cell astrocytoma | |
| Cardiac rhabdomyoma | |
| Lymphangioleiomyomatosis* | |
| Angiomyolipomas (>2 or more) | |
- * A combination of the two major clinical features (lymphangioleiomyomatosis and angiomyolipomas) without other features does not meet criteria for a definite diagnosis.
- **Includes tubers and cerebral white matter radial migration lines.
Genetic testing
- TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing.[1]