The Rare Neurocutaneous Disorders

Barros, Felipe S.; Marussi, Victor Hugo Rocha; Amaral, Lázaro Luís Faria do; Rocha, Antônio José da; Campos, Christiane Monteiro de Siqueira; Freitas, Leonardo Furtado; Huisman, Thierry A.G.M.; Soares, Bruno P.

doi:10.1097/rmr.0000000000000185

Cited by 16 publications

(7 citation statements)

References 208 publications

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“…The most frequently registered CNS lesions found using imaging methods were brain infarcts or necrosis, brain atrophies, and CC lesions [ 9 ]. Apart from these, a white matter hyperintensity T2/FLAIR signal was common [ 63 ].…”

Section: Discussionmentioning

confidence: 99%

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

et al. 2023

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Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities. The aim of the study was to determine the presence of CC abnormalities, their relationship with the IKBKG mutations, and the possible presence of mutations of other genes. A group of seven IP patients was examined. Analyses of the IKBKG gene and the X-chromosome inactivation pattern were performed, as well as MRI and whole exome sequencing (WES) with the focus on the genes relevant for neurodegeneration. WES analysis showed IKBKG mutation in all examined patients. A patient who had a mutation of a gene other than IKBKG was excluded from further study. Four of the seven patients had clinically diagnosed CNS anomalies; two out of four had MRI-diagnosed CC anomalies. The simultaneous presence of IKBKG mutation and CC abnormalities and the absence of other mutations indicate that IKBKG may be the cause of CC abnormalities and should be included in the list of genes responsible for CC abnormalities.

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Section: Discussionmentioning

confidence: 99%

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

et al. 2023

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“…The GNAQ gene mutation has been described as the most likely main mutation in SWS [18]. Cells rich in GNAQ include endothelial cells in the brain, eye and skin, causing their respective disorders [19]. These organs and their vasculature are known to arise from the ectoderm and mesoderm, both of which are also affected by the phakomatoses including Klippel-Trenaunay syndrome, tuberous sclerosis and Von Hippel-Lindau disease [16].…”

Section: Discussionmentioning

confidence: 99%

Sturge-Weber Syndrome and Haematuria: a Case Report of an Unusual Presentation

Mar

2020

SN Compr. Clin. Med.

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“…Cobb syndrome is a rare, non-inherited congenital disorder characterized by the involvement of all vessels within an embryonic metamere [ 47 ], leading to the presence of spinal vascular malformations associated with cutaneous vascular lesion involving the same metamere. To date, prevalence is unknown and approximately 100 cases have been reported in literature [ 78 ].…”

Section: Vascular Lesions Of the Spinal Cordmentioning

confidence: 99%

Spinal vascular lesions: anatomy, imaging techniques and treatment

Ros

Picchi

Ferrazzoli

et al. 2021

European Journal of Radiology Open

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Vascular myelopathies include different aetiology and mechanism of damage.• The level of the lesion and the localization within the SC correlates with the clinical symptoms.• CT, MRI and angiography are essential for diagnosis and treatment playing a complementary role.• MRI is the gold standard for the evaluation of spinal cord lesions.• Spinal angiography is the gold standard for evaluation of spinal cord vasculature and vascular malformations.

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The Rare Neurocutaneous Disorders

Cited by 16 publications

References 208 publications

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

Sturge-Weber Syndrome and Haematuria: a Case Report of an Unusual Presentation

Spinal vascular lesions: anatomy, imaging techniques and treatment

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