TY - JOUR
T1 - The rare neurocutaneous disorders update on clinical, molecular, and neuroimaging features
AU - Barros, Felipe S.
AU - Marussi, Victor Hugo R.
AU - Amaral, Lázaro L.F.
AU - Da Rocha, Antônio José
AU - Campos, Christiane M.S.
AU - Freitas, Leonardo F.
AU - Huisman, Thierry A.G.M.
AU - Soares, Bruno P.
N1 - Publisher Copyright:
Copyright 2018 Wolters Kluwer Health, Inc. All rights reserved.
Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2018
Y1 - 2018
N2 - Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. In this article, we review the clinical features, current pathogenesis, and modern neuroimaging findings of melanophakomatoses, vascular phakomatoses, and other rare neurocutaneous syndromes that may also include tissue overgrowth or neoplastic predisposition.
AB - Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. In this article, we review the clinical features, current pathogenesis, and modern neuroimaging findings of melanophakomatoses, vascular phakomatoses, and other rare neurocutaneous syndromes that may also include tissue overgrowth or neoplastic predisposition.
KW - Brain MRI
KW - Hemimegalencephaly
KW - Incontinentia pigmenti
KW - MTOR
KW - Magnetic resonance imaging
KW - Melanosis
KW - Neurocutaneous disorders
KW - PHACES syndrome
KW - Phakomatosis
KW - Phosphatase
KW - Tensin homolog
KW - Vascular malformation
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U2 - 10.1097/RMR.0000000000000185
DO - 10.1097/RMR.0000000000000185
M3 - Review article
C2 - 30516694
AN - SCOPUS:85062007473
SN - 0899-3459
VL - 27
SP - 433
EP - 462
JO - Topics in Magnetic Resonance Imaging
JF - Topics in Magnetic Resonance Imaging
IS - 6
ER -