Tuberous sclerosis (diagnostic criteria)
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At the time the article was created Frank Gaillard had no recorded disclosures.View Frank Gaillard's current disclosures
At the time the article was last revised Ashesh Ishwarlal Ranchod had no financial relationships to ineligible companies to disclose.View Ashesh Ishwarlal Ranchod's current disclosures
The tuberous sclerosis diagnostic criteria have been developed to aid the diagnosis of tuberous sclerosis and have been updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group (at time of writing - 2019) 1.
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.
- definite TS complex: either 2 major features or 1 major and 2 or more minor
- possible TS complex: either 1 major or ≥2 minor
Modifications from the 1998 clinical criteria:
- 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 have been removed altogether as a criteria
- angiomyolipomas now include extrarenal angiomyolipomas
- rectal polyps were merged with nonrenal hamartomas
- angiofibromas (3 or more) or fibrous cephalic plaque
- non-traumatic ungual or periungual fibroma (2 or more)
- hypomelanotic macules (3 or more, at least 5 mm diameter)
- shagreen patch
- multiple retinal nodular hamartomas
- cortical dysplasias (include tubers and cerebral white matter migration lines)
- subependymal nodule
- subependymal giant cell astrocytoma
- cardiac rhabdomyoma
- lymphangioleiomyomatosis (LAM)*
- angiomyolipomas (2 or more)*
* a combination of the two following major features (LAM and angiomyolipomas) without other feature does not meet criteria for a definite diagnosis of TSC.
- dental enamel pits: 3 or more for the entire dentition
- intraoral fibromas (2 or more)
- non-renal hamartomas
- retinal achromic patch
- 'confetti' skin lesions
- multiple renal cysts
- 1. Hope Northrup, Darcy A. Krueger and on behalf of the International Tuberous Sclerosis Complex Group. "Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference" Pediatr Neurol 49, no. 4 (October 2013): 243-254 href="https://doi.org/10.1016/j.pediatrneurol.2013.08.001" target="_blank">doi:10.1016/j.pediatrneurol.2013.08.001.
- 2. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. (1998) Journal of child neurology. 13 (12): 624-8. doi:10.1177/088307389801301206 - Pubmed