Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease.
Neurocutaneous syndromes
Neurofibromatosis
Phakomatosis
Tuberous sclerosis
Von Hippel-Lindau
Von Recklinghausen’s disease
Journal
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350
Titre abrégé: Childs Nerv Syst
Pays: Germany
ID NLM: 8503227
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
received:
12
08
2023
accepted:
16
09
2023
medline:
30
10
2023
pubmed:
11
10
2023
entrez:
11
10
2023
Statut:
ppublish
Résumé
Neurocutaneous syndromes (also known as phakomatoses) are heterogenous group of disorders that involve derivatives of the neuroectoderm. Each disease has diagnostic and pathognomonic criteria, once identified, thorough clinical examination to the patient and the family members should be done. Magnetic resonance imaging (MRI) is used to study the pathognomonic findings withing the CNS (Evans et al. in Am J Med Genet A 152A:327-332, 2010). This chapter includes the 4 most common syndromes faced by neurosurgeons and neurologists; neurofibromatosis types 1 and 2, tuberous sclerosis and Von Hippel-Lindau disease. Each syndrome has specific genetic anomaly that involves a tumor suppressor gene and the loss of inhibition of specific pathways. The result is a spectrum of cutaneous manifestations and neoplasms.
Identifiants
pubmed: 37819506
doi: 10.1007/s00381-023-06160-3
pii: 10.1007/s00381-023-06160-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2791-2806Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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