Phakomatoses: A pictorial review

Abstract

Phakomatoses or Neurocutaneous syndromes are a heterogeneous group of disorders and have variable inheritance pattern. Currently, more than 30 entities are included in this group. These disorders primarily affect the central nervous system; however, skin, viscera, and other connective tissues can also be involved with variable clinical presentation. We will describe and illustrate the various radiological findings of the common entities through the iconography of the cases presented to our department.

Keywords

• central nervous system
• magnetic resonance imaging
• neurocutaneous
• neurofibromatosis
• phakomatoses