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


==Overview==
*'''Definite''' – Either two major features or one major feature plus two minor features.
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.
*'''Probable''' – One major plus one minor feature.  
*'''Suspect''' – Either one major feature or two or more minor features.


== Diagnostic Criteria ==
{| class="wikitable"
{| class=wikitable width="75%" style="margin: 1em auto 1em auto"
|+
|+ Diagnostic Criteria for Tuberous Sclerosis Complex<ref name="PMID15563009">{{cite journal
! colspan="2" |Updated diagnostic criteria for tuberous sclerosis complex 2012<ref>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>
| author = Roach E, Sparagana S
| title = Diagnosis of tuberous sclerosis complex.
| journal = Journal of Child Neurology
| volume = 19
| issue = 9
| 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
|"Conferri" 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
|Angiofibromas (>3 or more) or fibrous cephalic plaque
|Dental enamel pits (>3)
|-
|-
!  width="2%" |
|Ungual fibromas (>2 or more)
!  width="12%" | Location
|Intraoral 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*
| Eyes
|
| Retinal achromic patch
| colspan="2" |  
|-
|-
! 19
|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 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:
*'''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.
[[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]]

Revision as of 21:11, 19 June 2020

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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

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) "Conferri" 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.

References

  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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