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Exam Cram
Exam Cram
Tuberous Sclerosis is an autosomal dominant neurocutaneous disorder characterised by multiple benign hamartomas caused by a mutation in gene TSC1 or TSC2
Presentation: seizures, developmental delay and facial angiofibromas
Diagnosis: based on presenence of hamartomas in brain, skin, kidneys, lungs and eyes + genetic testing
Management: MDT, Everolimus (mTOR inhibitor)
Diagnosis
Diagnosis
2021 International Tuberous Sclerosis Consensus Group: (1/3)
Major features x2
Major x1 + minor features x2
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
Written in 2025.
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