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

 

Image 9.11: Tuberous sclerosis: Periungual fibroma

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Pediatric Dermatology Copyright © 2023 by Dr. Wingfield E. Rehmus, MD, MPH; Dr. Jamie Phillips; Dr. Lisa Flegel; Dr. Saud Alobaida; and Hannah Podoaba is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, except where otherwise noted.

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