CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2020; 30(02): 195-205
DOI: 10.4103/ijri.IJRI_497_19
Miscellaneous

Phakomatoses: A pictorial review

M Sarthak Swarup
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
,
Swati Gupta
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
,
Sapna Singh
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
,
Anjali Prakash
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
,
Anurag Mehndiratta
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
,
Anju Garg
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
› Author Affiliations
Financial support and sponsorship Nil.

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.



Publication History

Received: 13 December 2019

Accepted: 09 April 2020

Article published online:
19 July 2021

© 2020. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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