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 been updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group (at time of writing - 2019) .

Criteria

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
  • definitive 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

* 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