Phakomatoses

(a.k.a. Systemic Harmatomatoses)

  • Tuberous Sclerosis Complex
  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2
  • Von Hippel-Lindeau Syndrome (Retinocerebellar Hemangiomatosis)
  • Sturge-Weber Syndrome (Encephalofacial Hemangiomatosis)
  • Phakomatosis Pigmentovascularis
  • Wyburn-Mason Syndrome (Racemose Hemangiomatosis)
  • Retinal Cavernous Hemangiomatosis with Cutaneous and Central Nervous System Vascular Malformations
  • Organoid Nevus Syndrome
  • Others that some classify as phakomatoses
    • Louis-Bar Syndrome (Ataxia telangiectasia)
    • Oculodermal melanocytosis
    • Kippel-Trenaunay-Weber syndrome
    • Diffuse Neonatal Hemangiomatosis
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