Literature DB >> 28250072

Neurocutaneous Disorders in Children.

Bruce R Korf1, E Martina Bebin2.   

Abstract

Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come. © American Academy of Pediatrics, 2017. All rights reserved.

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Year:  2017        PMID: 28250072     DOI: 10.1542/pir.2015-0118

Source DB:  PubMed          Journal:  Pediatr Rev        ISSN: 0191-9601


  4 in total

1.  Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Authors:  Martino Ruggieri; Agata Polizzi; Gioacchino Paolo Marceca; Stefano Catanzaro; Andrea D Praticò; Concezio Di Rocco
Journal:  Childs Nerv Syst       Date:  2020-09-17       Impact factor: 1.475

2.  Selenium Status in Paediatric Patients with Neurodevelopmental Diseases.

Authors:  Christian L Görlich; Qian Sun; Viola Roggenkamp; Julian Hackler; Sebastian Mehl; Waldemar B Minich; Angela M Kaindl; Lutz Schomburg
Journal:  Nutrients       Date:  2022-06-08       Impact factor: 6.706

3.  The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1.

Authors:  Francesca Cervi; Veronica Saletti; Katherine Turner; Angela Peron; Sara Bulgheroni; Matilde Taddei; Francesca La Briola; Maria Paola Canevini; Aglaia Vignoli
Journal:  Orphanet J Rare Dis       Date:  2020-09-07       Impact factor: 4.123

4.  Neural network classifiers for images of genetic conditions with cutaneous manifestations.

Authors:  Dat Duong; Rebekah L Waikel; Ping Hu; Cedrik Tekendo-Ngongang; Benjamin D Solomon
Journal:  HGG Adv       Date:  2021-08-20
  4 in total

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