Tuberous sclerosis diagnostic criteria: Difference between revisions
Jump to navigation
Jump to search
Jose Loyola (talk | contribs) |
Jose Loyola (talk | contribs) |
||
| Line 15: | Line 15: | ||
{| class="wikitable" | {| class="wikitable" | ||
|+ | |+ | ||
! colspan="2" |Updated diagnostic criteria for tuberous sclerosis complex 2012 | ! colspan="2" |Updated diagnostic criteria for tuberous sclerosis complex 2012 | ||
|- | |- | ||
!Major Features | !Major Features | ||
| Line 21: | Line 21: | ||
|- | |- | ||
|Hypomelanotic macules (> or more at least 5mm diameter) | |Hypomelanotic macules (> or more at least 5mm diameter) | ||
|" | |"Confetti" skin lesions | ||
|- | |- | ||
|Angiofibromas (>3 or more) or fibrous cephalic plaque | |Angiofibromas (>3 or more) or fibrous cephalic plaque | ||
| Line 62: | Line 62: | ||
[[Category:Neurology]] | [[Category:Neurology]] | ||
[[Category:Needs overview]] | [[Category:Needs overview]] | ||
<references /> | |||
Revision as of 21:12, 19 June 2020
|
Tuberous sclerosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Tuberous sclerosis diagnostic criteria On the Web |
|
American Roentgen Ray Society Images of Tuberous sclerosis diagnostic criteria |
|
Risk calculators and risk factors for Tuberous sclerosis diagnostic criteria |
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
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 | |
|---|---|
| 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.