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__NOTOC__
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{{Tuberous sclerosis}}
{{Tuberous sclerosis}}
{{CMG}}
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== 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. A combination of signs, classified as major or minor, is required in order to establish a clinical diagnosis.


==Overview==
== Diagnostic Criteria ==
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.
Diagnosis is made according to the following criteria:


== Diagnostic Criteria ==
*'''Definite''' – Either two major features or one major feature plus two minor features.
{| class=wikitable width="75%" style="margin: 1em auto 1em auto"
*'''Probable''' – One major plus one minor feature.
|+ Diagnostic Criteria for Tuberous Sclerosis Complex<ref name="PMID15563009">{{cite journal
*'''Suspect''' – Either one major feature or two or more minor features.
| author = Roach E, Sparagana S
 
| title = Diagnosis of tuberous sclerosis complex.
<br />
| journal = Journal of Child Neurology
{| class="wikitable"
| volume = 19
|+
| issue = 9
! colspan="2" |Updated diagnostic criteria for tuberous sclerosis complex 2012<ref name=":0">Northrup, Hope, et al. "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." ''Pediatric neurology'' 49.4 (2013): 243-254.</ref>
| pages = 643-9
| year = 2004
| id = PMID 15563009
| url = http://www.medscape.com/viewarticle/495642
}}</ref>
! colspan="5" width="100%" | Major Features
|-
|-
! width="2%" |
!Major Features
! width="12%" | Location
!Minor Features
!  width="42%" | Sign
!  width="22%" | Onset<ref name="PMID17005952">{{cite journal
| author = Crino P, Nathanson K, Henske E
| title = The Tuberous Sclerosis Complex.
| journal = New England Journal of Medicine
| volume = 355
| issue = 13
| pages = 1345-56
| year = 2006
| id = PMID 17005952
}}</ref>
!  width="22%" | Note
|-
|-
! 1
|[[Hypomelanotic macules]] (> or more at least 5mm diameter)
| Head
|"Confetti" skin lesions
| 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.
|-
|-
! colspan="5" width="100%" | Minor Features
|[[Angiofibroma|Angiofibromas]] (>3 or more) or fibrous cephalic plaque
|Dental enamel pits (>3)
|-
|-
!  width="2%" |
|Ungual [[Fibroma|fibromas]] (>2 or more)
!  width="12%" | Location
|Intraoral [[Fibroma|fibromas]] (>2 or more)
!  width="42%" | Sign
!  width="44%" colspan="2" | Note
|-
|-
! 12
|Shagreen patch
| Teeth
|Retinal achromic patch
| Multiple randomly distributed pits in dental enamel
| colspan="2" |
|-
|-
! 13
|Multiple retinal [[hamartomas]]
| Rectum
|Multiple renal [[cysts]]
| Hamartomatous rectal polyps
| colspan="2" | [[Histology|Histologic]] confirmation is suggested.
|-
|-
! 14
|Cortical [[dysplasias]]**
| Bones
|Nonrenal [[hamartomas]]
| Bone cysts
| colspan="2" |
|-
|-
! 15
|[[Subependymal]] nodules
| Brain
|
| Cerebral white-matter "migration tracts"
| colspan="2" | [[Radiography|Radiographic]] confirmation is sufficient. '''5''' and '''15''' together count as one major feature.
|-
|-
! 16
|[[Subependymal]] giant cell [[astrocytoma]]
| Gums
|
| Gingival fibromas
| colspan="2" |  
|-
|-
! 17
|Cardiac [[rhabdomyoma]]
| Liver, spleen and other organs
|
| Nonrenal hamartoma
| colspan="2" | Histologic confirmation is suggested.
|-
|-
! 18
|[[Lymphangioleiomyomatosis|Lymphangioleiomyomatosis*]]
| Eyes
|
| Retinal achromic patch
| colspan="2" |  
|-
|-
! 19
|[[Angiomyolipoma|Angiomyolipomas]] (>2 or more)
| Skin
|
| "Confetti" skin lesions
| colspan="2" |
|-
! 20
| Kidneys
| Multiple renal cysts
| colspan="2" | Histologic confirmation is suggested.
|}
|}


===Variability===
* * A combination of the two major clinical features ([[lymphangioleiomyomatosis]] and [[Angiomyolipoma|angiomyolipomas]]) without other features does not meet criteria for a definite diagnosis.
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.
* **Includes tubers and cerebral white matter radial migration lines.


The various signs are then marked against the diagnostic criteria to produce a level of diagnostic certainty:
=== Genetic testing ===
*'''Definite''' – Either two major features or one major feature plus two minor features.
 
*'''Probable''' – One major plus one minor feature.
*[[TSC1]] or [[TSC2]] pathogenic mutation is sufficient to make a definite diagnosis of TSC, but nowadays it is seem as mostly a corroborative testing.<ref name=":0" />
*'''Suspect''' – Either one major feature or two or more minor features.
[[Image:TSC-Frequency-Signs-Childhood.png|550px|thumb|left|The frequency of clinical signs in children with tuberous sclerosis, grouped by age<ref name="TSC-diagnosis">Curatolo (2003), chapter: "Diagnostic Criteria".</ref>]]<br style="clear:both;">


==References==
==References==
{{Reflist|2}}
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Disease]]
[[Category:Disease]]
[[Category:Neurology]]
[[Category:Neurology]]
[[Category:Needs overview]]
[[Category:Needs overview]]
<references />

Latest revision as of 17:56, 23 June 2020

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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]

References

  1. ↑ 1.0 1.1 Northrup, Hope, et al. "Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." Pediatric neurology 49.4 (2013): 243-254.
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