System | Major criteria | Minimum number | Minor criteria | Minimum number |
---|---|---|---|---|
Dermatology/dental | Facial angiofibroma Fibrous cephalic plaque | 3 1 | Dental enamel pits (on smooth surface of tooth) | 3 |
Hypomelanotic macules | 3, >5 mm diameter | ‘Confetti’ skin lesions | 2 | |
Shagreen patch | 1 | Intraoral fibroma | 2 | |
Ungual fibroma | 2 | |||
Ophthalmology | Retinal hamartomas | 2 | Retinal achromic patch | 1 |
Neurology | Cortical dysplasia* | 3 | ||
Subependymal nodule | 3 | |||
Subependymal giant cell astrocytoma | 1 | |||
Renal | Angiomyolipomas | 2 | Multiple renal cysts | |
Cardiology | Cardiac rhabdomyoma | 1 | ||
Pulmonary | Lymphangioleiomyomatosis† | 1 | ||
GI | Non-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.