Chapter 9: Genodermatoses
Genodermatoses: Tuberous Sclerosis
Tuberous Sclerosis
Similar to NF-1, tuberous sclerosis presents with skin findings in addition to a constellation of other changes. It is caused by mutation in the TSC gene.
Selected criteria for TSC1 include:
Major criteria
- Hypomelanotic macules at least 5 mm in diameter
- Facial angiofibromas or fibrous cephalic plaque
- Periungual fibromas
- Shagreen patch (connective tissue nevus)
- Multiple retinal hamartomas
- Cortical dysplasias
- Subependymal nodules
- Subependymal giant cell astrocytoma
- Cardiac rhabdomyosma
- Lymphangioleiomyomatosis
- Angiomyolipomas
Minor features
- Hypopigmented macules (“confetti” macules)
- Dental enamel pits