Table 1

Diagnostic criteria for tuberous sclerosis complex (TSC)6

SystemMajor criteriaMinimum numberMinor criteriaMinimum number
Dermatology/dentalFacial angiofibroma
Fibrous cephalic plaque
Dental enamel pits (on smooth surface of tooth)3
Hypomelanotic macules3, >5 mm diameter‘Confetti’ skin lesions2
Shagreen patch1Intraoral fibroma2
Ungual fibroma2
OphthalmologyRetinal hamartomas2Retinal achromic patch1
NeurologyCortical dysplasia*3  
Subependymal nodule3
Subependymal giant cell astrocytoma1
RenalAngiomyolipomas2Multiple renal cysts
CardiologyCardiac rhabdomyoma1
GINon-renal hamartomas‡
  • Definite diagnosis: Two major features or one major with 2 or more minor features.

  • Possible diagnosis: Either one major or 2 minor features.

  • *Includes tubers and cerebral white matter radial migration lines.

  • †A combination of two major features LAM and angiomyolipoma without other features is not diagnostic.

  • ‡Includes hamartomous rectal polyps.

  • LAM, lymphangioleiomyomatosis; GI, gastrointestinal.