M. Reza Rajebi MD, Presenter: Nothing to Disclose

Nicole A Zimmerman BA, Abstract Co-Author: Nothing to Disclose

Sanjay Padubidri Prabhu MBBS, Abstract Co-Author: Nothing to Disclose

The purpose of this educational exhibit is to provide a simplified guide to: 1. Review the rare phakomatoses. 2. Describe the pathophysiology of the rare phakomatoses. 3. Demonstrate the clinical and radiologic manifestations associated with rare phakomatoses.  

A combination of text and images will be linked to illustrate the key findings of rare phakomatoses. Pathophysiology and imaging findings of rare phakomatoses including ataxia telangiectasia, Wyburn-Mason syndrome, hereditary hemorrhagic telangiectasia, blue rubber bleb nevus syndrome, PHACE syndrome, meningioangiomatosis, hypomelanosis of Ito, incontinentia pigmenti, Waardenburg's syndrome, neurocutaneous melanosis, CLOVES syndrome, and basal cell nevus syndrome will be discussed.

The phakomatoses, also known as neurocutaneous syndromes, are a diverse set of disorders with patchy manifestation and neoplastic growths affecting the skin and nervous system, as well as other organs. Imaging plays an important role in the diagnosis, surveillance, and treatment of progressive lesions in patients with rare phakomatoses.

Rajebi, M, Zimmerman, N, Prabhu, S, The Rare Phakomatoses: A Pictorial Review.  Radiological Society of North America 2011 Scientific Assembly and Annual Meeting, November 26 - December 2, 2011 ,Chicago IL. http://archive.rsna.org/2011/11006493.html