Tuberous sclerosis (diagnostic criteria)
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The tuberous sclerosis diagnostic criteria have been developed to aid the diagnosis of tuberous sclerosis and have most recently been updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group. The following are adapted from RoachNorthrup et al 1998 20131:
Genetic diagnostic criteria
The identification of either a TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis of tuberous sclerosis complex. Of note, 10-25% of TSC patients have no mutation identified by conventional genetic testing, which does not exclude TSC or prevent the use of clinical diagnostic criteria to diagnose TSC.
Clinical criteria
-
definitiveDefinitive TS complex: either 2 major features or 1 major and 2minor -
probable TS complex:1 major and 1or more minor -
possiblePossible TS complex: either 1 major or ≥2 minor
Modifications from the 1998 clinical criterias
- The category "Probable TS complex" has been dropped from the updated classification
- White matter radial migration line has been removed from the minor features and merged with cortical tubers under the major feature "cortical dysplasias"
- Bone cysts has been removed altogether as a criteria
- Angiomyolipomas now include extrarenal angiomyolipomas
- Rectal polyps was merged with nonrenal hamartomas
Major features
-
angiofibromas (3 or
foreheadmore) or fibrous cephalic plaque - non traumatic ungual or periungual fibroma (2 or more)
- hypomelanotic macules (3 or more, at least 5mm diameter)
- shagreen patch
- multiple retinal nodular hamartomas
- cortical
tuberdysplasias (include tubers and cerebral white matter migration lines) - subependymal nodule
- subependymal giant cell astrocytoma
- cardiac rhabdomyoma
-
lymphangiomyomatosislymphangioleiomyomatosis* -
renalangiomyolipomas (2 or more)*
* A combination of the two following major features (LAM and angiomyolipomas) without other feature does not meet criteria for definite diagnosis
Minor features
- dental enamel pits:
multiple and randomly distributed3 or more for the entire dentition rectal polyps: hamartomatousbone cystscerebral white matter migration lines-
gingivalintraoral fibromas (2 or more) - non renal
hamartomahamartomas - retinal achromic patch
- 'confetti' skin lesions
- multiple renal cysts
-<p>The <strong>tuberous sclerosis diagnostic criteria</strong> have been developed to aid the diagnosis of <a href="/articles/tuberous-sclerosis">tuberous sclerosis</a> and have been adapted from Roach <em>et al</em> 1998 <sup>1</sup>:</p><ul>- +<p>The <strong>tuberous sclerosis diagnostic criteria</strong> have been developed to aid the diagnosis of <a href="/articles/tuberous-sclerosis">tuberous sclerosis</a> and have most recently been updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group. The following are adapted from Northrup <em>et al</em> 2013<sup>1</sup>:</p><h5>Genetic diagnostic criteria</h5><p>The identification of either a TSC1 or TSC2 pathogenic mutation is sufficient to make a definite diagnosis of tuberous sclerosis complex. Of note, 10-25% of TSC patients have no mutation identified by conventional genetic testing, which does not exclude TSC or prevent the use of clinical diagnostic criteria to diagnose TSC.</p><h5>Clinical criteria</h5><ul>
-<strong>definitive TS complex:</strong> either 2 major features or 1 major and 2 minor</li>- +<strong>Definitive TS complex:</strong> either 2 major features or 1 major and 2 or more minor</li>
-<strong>probable TS complex:</strong> 1 major and 1 minor</li>-<li>-<strong>possible TS complex:</strong> either 1 major or ≥2 minor</li>- +<strong>Possible TS complex:</strong> either 1 major or ≥2 minor</li>
- +</ul><p><em>Modifications from the 1998 clinical criterias</em></p><ul>
- +<li><em>The category "Probable TS complex" has been dropped from the updated classification</em></li>
- +<li><em>White matter radial migration line has been removed from the minor features and merged with cortical tubers under the major feature "cortical dysplasias"</em></li>
- +<li><em>Bone cysts has been removed altogether as a criteria</em></li>
- +<li><em>Angiomyolipomas now include extrarenal angiomyolipomas</em></li>
- +<li><em>Rectal polyps was merged with nonrenal hamartomas</em></li>
-<a href="/articles/facial-angiofibroma">facial angiofibroma</a> or forehead plaque</li>-<li>non traumatic ungual or <a href="/articles/periungual-fibroma">periungual fibroma</a>-</li>- +<a href="/articles/facial-angiofibroma">angiofibromas</a> (3 or more) or fibrous cephalic plaque</li>
- +<li>non traumatic ungual or <a href="/articles/periungual-fibroma">periungual fibroma</a> (2 or more)</li>
-<a href="/articles/hypomelanotic-macules">hypomelanotic macules</a> (3 or more)</li>- +<a href="/articles/hypomelanotic-macules">hypomelanotic macules</a> (3 or more, at least 5mm diameter)</li>
-<li><a href="/articles/cortical-tuber">cortical tuber</a></li>- +<li><a href="/articles/cortical-tuber">cortical dysplasias (include tubers and cerebral white matter migration lines)</a></li>
-<li><a href="/articles/lymphangioleiomyomatosis-1">lymphangiomyomatosis</a></li>-<li><a href="/articles/angiomyolipoma-1">renal angiomyolipoma</a></li>-</ul><h5>Minor features</h5><ul>-<li>dental pits: multiple and randomly distributed</li>-<li>rectal polyps: hamartomatous</li>-<li>bone cysts</li>-<li>cerebral white matter migration lines</li>-<li>gingival fibromas</li>-<li>non renal hamartoma</li>- +<li>
- +<a href="/articles/lymphangioleiomyomatosis-1">lymphangioleiomyomatosis</a>*</li>
- +<li>
- +<a href="/articles/angiomyolipoma-1">angiomyolipoma</a>s (2 or more)*</li>
- +</ul><p><em>* A combination of the two following major features (LAM and angiomyolipomas) without other feature does not meet criteria for definite diagnosis</em></p><h5>Minor features</h5><ul>
- +<li>dental enamel pits: 3 or more for the entire dentition</li>
- +<li>intraoral fibromas (2 or more)</li>
- +<li>non renal hamartomas</li>
References changed:
- 1. Northrup H, Krueger D, Northrup H et al. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-54. <a href="https://doi.org/10.1016/j.pediatrneurol.2013.08.001">doi:10.1016/j.pediatrneurol.2013.08.001</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24053982">Pubmed</a>
- 1. Roach E.S., Manuel R. Gomez and Hope Northrup. “Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria.” J Child Neurol 13, no. 12 (December 1, 1998): 624-628. <a href="http://dx.doi.org/10.1177/088307389801301206" target="_blank">doi:10.1177/088307389801301206</a>.
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