Tuberous Sclerosis

Exam Cram

Diagnosis

2021 International Tuberous Sclerosis Consensus Group: 

• 2 major features

• 1 major + 2 minor features

• Genetic TSC1 or TSC2 variant

Major Features

• Hypomelanotic macules > 2, > 5mm diameter

• Angiofibroma > 2 or fibrous cephalic plaque

• Ungual fibromas > 1

• Shagreen patch

• Multiple retinal hamartomas

• Multiple cortical tubers and/or radial migration lines

• Supendenymal nodule > 1

• Subependymal giant cell astrocytoma

• Cardiac rhadbomyoma

• Lymphangioleiomyomatosis (LAM)

• Angiomyolipomas > 1

Minor features

• “Confetti” skin lesions

• Dental enamel pits (>3)

• Intraoral fibromas (≥2)

• Retinal achromic patch

• Multiple renal cysts

• Nonrenal hamartomas

References and Resources

1. https://www.tscalliance.org/understanding-tsc/diagnosis-criteria/

Written in 2025.