Epilepsy in Neurological Phenotypes of Epidermal Nevus Syndrome

Flores‐Sarnat, Laura

doi:10.1055/s-0036-1571792

Cited by 10 publications

(5 citation statements)

References 132 publications

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“…Hemimegalencephaly is a frequent cerebral lesion associated with neurocutaneous syndromes, in particular the epidermal naevus syndrome, including linear sebaceous and keratinocytic naevi, Proteus and CLOVES syndromes . The cutaneous naevi in these diseases are due to neural crest involvement with the post‐zygotic somatic mosaicism.…”

Section: Focal Cortical Dysplasia Type IImentioning

confidence: 99%

Review: The international consensus classification of Focal Cortical Dysplasia – a critical update 2018

Najm

Sarnat

Blümcke

2018

Neuropathology Appl Neurobio

169

153

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The Diagnostic Methods commission of the International League against Epilepsy (ILAE) released a first international consensus classification of Focal Cortical Dysplasia (FCD) in 2011. Since that time, this FCD classification has been widely used in clinical diagnosis and research (more than 740 papers cited in Pubmed between 1/1/2012 and 7/1/2017). Herein, we review the new data that will inform and revise the FCD classification. Many recent papers described moleculargenetic characteristics in FCD type II including multiple mutations in the mTOR pathway. In addition, the electro-clinico-imaging phenotype and surgical outcomes of FCD type II (in particular type IIb) were further defined and validated. These results pave the way for the design of an integrated clinico-pathological and genetic classification system, as recently recommended by the WHO for the classification of malignant brain tumours.On the other hand, little new information was acquired on FCD types I and III. Focal cortical dysplasia type I subtypes are still lacking a comprehensive description of clinical phenotypes, reproducible imaging characteristics, and specific molecular/genetic biomarkers. Associated FCD III subtypes also became rare in published literature. Despite temporal lobe epilepsy being the most common focal epilepsy in adults, we have not identified neurophysiological, imaging, histopathological and/or genetic biomarkers to reliably classify FCD III with or without hippocampal sclerosis. In respect of pathogenesis, FCD adjacent to a non-developmental, postnatally acquired lesion is difficult to explain and perhaps does not exist. This update may help foster shared efforts towards a better understanding of FCD, potential future updates of classification and novel targeted treatments.

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Section: Focal Cortical Dysplasia Type IImentioning

confidence: 99%

Review: The international consensus classification of Focal Cortical Dysplasia – a critical update 2018

Najm

Sarnat

Blümcke

2018

Neuropathology Appl Neurobio

169

153

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“…If accompanied by lateral parietal scalp alopecia, mesencephalic neural crest also is involved. 81,98 Frontal and Nasal Cephaloceles…”

Section: Linear Sebaceous Nevusmentioning

confidence: 99%

“…This condition is known as congenital infiltrative lipomatosis of the face and is associated with several neurocutaneous syndromes, epidermal nevus syndrome in particular, and often with hemimegalencephaly. 98,101 Lipomatosis is distinguished from an encapsulated lipoma. This facial lipomatosis is a mesencephalic neural crest defect, but the brain malformation is not.…”

Section: Congenital Hemifacial Hyperplasia and Lipomatosismentioning

confidence: 99%

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Neurocutaneous Syndromes as Embryonic Neurocristopathies

Sarnat

Flores‐Sarnat

2016

J Pediatr Epilepsy

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Most neurocutaneous syndromes are somatic genetic mutations involving neural crest derivatives, hence are neurocristopathies. Neural crest is best understood in the context of ontogenetic and phylogenetic development and of the history of the evolution of the concepts surrounding its discovery and interpretation. The neural crest is an embryonic layer of cells at the margins of the neural plate, first distinguished at gastrulation. As the embryonic neural folds close dorsally to form the neural tube, these neural crest cells delaminate by losing their adhesion to neighboring cells, enabling them to migrate peripherally along genetically programmed pathways in the extracellular matrix, where they not only form ectodermal neural structures such as dorsal root ganglia and the autonomic nervous system but also exhibit differentiation into many tissues derived from mesoderm and endoderm. Neural crest cells migrate in distinctive patterns from prosencephalic, mesencephalic, and rhombencephalic sites of the neural tube, but terminal differentiation occurs only after cellular migration is completed. The broad spectrum of tissues differentiated from neural crest and the fact that developmental genes are expressed in all three traditional germ layers has led some to conclude that the germ layer theory is obsolete, but its usefulness in embryology can be retained if neural crest is regarded as a fourth and equal germ layer, as proposed by Hall. Phylogenetic analyses reveal that neural crest tissue is present in all vertebrates. Presumptive neural crest probably exists in pre-vertebrate chordates such as amphioxus and tunicates, but is not evident in any phylum of invertebrates. Vertebrate neural crest is responsible for most of craniofacial development and contributes to development of intestine, as well as to numerous other visceral organs, thymus, meninges, the eye, the heart, and other tissues. Disorders of neural crest tissue are known as neurocristopathies and include all primary neurocutaneous syndromes. The genetic profile of neural crest development is complex with many genes contributing and interacting; many also function as tumor suppressor genes. Epileptogenesis of the brain malformations associated with many neurocutaneous syndromes, such as cortical tubers in tuberous sclerosis complex and hemimegalencephaly in epidermal nevus syndrome, can be explained by several factors: dysplastic neurons function abnormally; primary cortical dysplasias are surrounded by adjacent zones of focal cortical dysplasias of a different histopathological nature; synaptic circuitry is abnormal, including the integration of subcortical heterotopia; inflammation may be associated in the fetus with hamartomatous cerebral lesions; and abnormal microvascular networks can produce focal ischemia.

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“…CLOVES syndrome was recently included in PIK3CA‐related overgrowth spectrum (PROS), a new entity that includes all the overgrowth syndromes characterized by PIK3CA‐activated mutation . Currently, CLOVES and Proteus syndromes have been delineated as neurological phentotypes of epidermal nevus syndrome (ENS) . We present an updated overview of CLOVES syndrome.…”

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confidence: 99%

CLOVES syndrome: review of a PIK3CA‐related overgrowth spectrum (PROS)

et al. 2016

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Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. These common anomalies are illustrated with figures from two personal cases. Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with other overgrowth syndromes, such as Proteus or Klippel-Trenaunay (K-T) syndromes, and for the therapeutic management of the different anomalies. In this context, a new entity comprising different syndromes with phenotypic mutations in PIK3CA has been proposed, designated PIK3CA-related overgrowth spectrum (PROS), with the aim of facilitating clinical management and establishing appropriate genetic study criteria.

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Epilepsy in Neurological Phenotypes of Epidermal Nevus Syndrome

Cited by 10 publications

References 132 publications

Review: The international consensus classification of Focal Cortical Dysplasia – a critical update 2018

Review: The international consensus classification of Focal Cortical Dysplasia – a critical update 2018

Neurocutaneous Syndromes as Embryonic Neurocristopathies

CLOVES syndrome: review of a PIK3CA‐related overgrowth spectrum (PROS)

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