Table 1

Diagnostic criteria for tuberous sclerosis complex67

Primary featuresSecondary featuresTertiary features
Facial angiofibromas1-150 Affected first degree relativeHypomelanotic macules1-150
Multiple ungual fibromas1-150 Cardiac rhabdomyoma“Confetti” skin lesions
Cortical tuber (H)Cerebral tubersRenal cysts
 Multiple calcified subependymal nodules (R)
 Multiple retinal astrocytomas1-150
 Subependymal nodule or giant cell
 astrocytoma (H)
Other retinal hamartoma or achromic patch1-150
Forehead plaque
Renal cysts (H)
lymphangioleiomyomatosis (H)
Renal angiomyolipoma (H or R)
Shagreen patch1-150
Non-calcified subependymal nodules (H)
Randomly distributed dental enamel pits
Hamartomatous rectal polyps (H)
Bone cysts (R)
Pulmonary lymphangioleiomyomatosis (R)
Gingival fibromas1-150
Hamartoma of other organs (H)
Cerebral white matter “migration tracts” or heterotopias
Infantile spasms
  • 1-150 Histological confirmation is not required if the lesion is clinically obvious.

  • (H) = histological confirmation required; (R) = radiographic confirmation required.