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.
Diagnosis
Genetic 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
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
Major features
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)
cortical dysplasias (include tubers and cerebral white matter migration lines)
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.
Minor features
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
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