Tuberous sclerosis (diagnostic criteria)

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 Northrup et al 2013 (at time of writing - 2018) ¹:. 

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 2 or more minor
• Possiblepossible TS complex: either 1 major or ≥2 minor

Modifications from the 1998 clinical criteriascriteria:

• Thethe category "Probable"probable TS complex" has been dropped from the updated classification
• Whitewhite matter radial migration line has been removed from the minor features and merged with cortical tubers under the major feature "cortical dysplasias"
• Bonebone cysts hashave been removed altogether as a criteria
• Angiomyolipomasangiomyolipomas now include extrarenal angiomyolipomas
• Rectalrectal polyps waswere merged with nonrenal hamartomas

Major features

• angiofibromas (3 or more) or fibrous cephalic plaque
• non traumatic-traumatic ungual or periungual fibroma (2 or more)
• hypomelanotic macules (3 or more, at least 5mm 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)*
• angiomyolipomaangiomyolipomass (2 or more)*

* Aa 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-renal hamartomas
• retinal achromic patch
• 'confetti' skin lesions
• multiple renal cysts