Curr Probl Diagn Radiol. 2021 Aug 28; doi: 10.1067/j.cpradiol.2021.07.002. Epub 2021 Aug 28.
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Current problems in diagnostic radiology
Amjad Samara, Mariya Gusman, Loai Aker, Matthew S Parsons, Ali Y Mian, Rami W Eldaya
Affiliations
Affiliations
- Department of Psychiatry, Washington University School of Medicine, St. Louis, MO.. Electronic address: [email protected].
- Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO.
- Department of Radiology, Hamad General Hospital, Doha, Qatar.
PMID: 34607749
DOI: 10.1067/j.cpradiol.2021.07.002
Abstract
Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Common phakomatoses include conditions like Neurofibromatosis and Tuberous sclerosis. Several review papers have focused on various aspects of these common conditions, including clinical presentation, genetic and molecular basis, and neuroimaging features. In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Vascular Phakomatoses (Ie, Ataxia Telangiectasia and PHACE Syndrome), and other conditions such as Cowden Syndrome, Basal Nevus Syndrome, Schwannomatosis, Progressive Facial Hemiatrophy, Gomez-Lopez-Hernandez Syndrome, Wyburn-Mason Syndrome, CHILD Syndrome, and Proteus Syndrome. We also review the neuroradiologic manifestations of these conditions as a guide for neurologists and neuroradiologists in their daily practice.
Copyright © 2021 Elsevier Inc. All rights reserved.
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