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Phakomatoses: A pictorial review
M Sarthak Swarup1, Swati Gupta1, Sapna Singh1
1Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.
The Indian Journal of Radiology & Imaging
|October 26, 2020
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.

