Tuberous sclerosis diagnostic criteria: Difference between revisions
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== Overview == | == Overview == | ||
There are no [[pathognomonic]] clinical [[medical sign|signs]] for [[tuberous sclerosis]]. Many signs are present in individuals who are healthy (although rarely), or who have another disease. | There are no [[pathognomonic]] clinical [[medical sign|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 == | ||
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{| 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 | ||
!Minor Features | !Minor Features | ||
|- | |- | ||
|Hypomelanotic macules (> or more at least 5mm diameter) | |[[Hypomelanotic macules]] (> or more at least 5mm diameter) | ||
|"Confetti" skin lesions | |"Confetti" skin lesions | ||
|- | |- | ||
|Angiofibromas (>3 or more) or fibrous cephalic plaque | |[[Angiofibroma|Angiofibromas]] (>3 or more) or fibrous cephalic plaque | ||
|Dental enamel pits (>3) | |Dental enamel pits (>3) | ||
|- | |- | ||
|Ungual fibromas (>2 or more) | |Ungual [[Fibroma|fibromas]] (>2 or more) | ||
|Intraoral fibromas (>2 or more) | |Intraoral [[Fibroma|fibromas]] (>2 or more) | ||
|- | |- | ||
|Shagreen patch | |Shagreen patch | ||
|Retinal achromic patch | |Retinal achromic patch | ||
|- | |- | ||
|Multiple retinal hamartomas | |Multiple retinal [[hamartomas]] | ||
|Multiple renal cysts | |Multiple renal [[cysts]] | ||
|- | |- | ||
|Cortical dysplasias** | |Cortical [[dysplasias]]** | ||
|Nonrenal hamartomas | |Nonrenal [[hamartomas]] | ||
|- | |- | ||
|Subependymal nodules | |[[Subependymal]] nodules | ||
| | | | ||
|- | |- | ||
|Subependymal giant cell astrocytoma | |[[Subependymal]] giant cell [[astrocytoma]] | ||
| | | | ||
|- | |- | ||
|Cardiac rhabdomyoma | |Cardiac [[rhabdomyoma]] | ||
| | | | ||
|- | |- | ||
|Lymphangioleiomyomatosis* | |[[Lymphangioleiomyomatosis|Lymphangioleiomyomatosis*]] | ||
| | | | ||
|- | |- | ||
|Angiomyolipomas (>2 or more) | |[[Angiomyolipoma|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. | * * A combination of the two major clinical features ([[lymphangioleiomyomatosis]] and [[Angiomyolipoma|angiomyolipomas]]) without other features does not meet criteria for a definite diagnosis. | ||
* ** | * **Includes tubers and cerebral white matter radial migration lines. | ||
=== Genetic testing === | === Genetic testing === | ||
* Some TSC1 or TSC2 pathogenic mutation may be sufficient to make a definite diagnosis of TSC | * Some [[TSC1]] or [[TSC2]] pathogenic mutation may be sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing. | ||
==References== | ==References== | ||
Revision as of 21:42, 19 June 2020
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Tuberous sclerosis Microchapters |
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Tuberous sclerosis diagnostic criteria On the Web |
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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.
Genetic testing
- Some TSC1 or TSC2 pathogenic mutation may be sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing.