Literature DB >> 26759320

Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.

Anna Carolina Paiva Costa T Figueiredo1, Nikolas Mata-Machado1, Matthew McCoyd1, José Biller2.   

Abstract

The neurocutaneous disorders (NCDs) embrace an extensive group of developmental disorders associated with involvement of the skin, central nervous system (CNS), and/or the peripheral nervous system (PNS). The neurocutaneous manifestations relate to the common ectodermal origin of these organs. This review intended for the practicing clinical neurologist focuses on selected aspects of the NCDs primarily those associated with cerebrovascular disease. Our emphasis is primarily on those NCDs with genetic heterogeneity and their neurological manifestations.

Entities:  

Keywords:  Hereditary hemorrhagic telangiectasia; Neurocutaneous disorders; Neurofibromatoses; Pseudoxanthoma elasticum; Tuberous sclerosis complex; Von Hippel-Lindau

Mesh：

Year:  2016        PMID： 26759320     DOI： 10.1007/s11910-015-0612-7

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


  89 in total

Review 1.  Pseudoxanthoma elasticum, ocular manifestations, complications and treatment.

Authors:  Ilias Georgalas; Ioannis Tservakis; Dimitris Papaconstaninou; Marina Kardara; Chryssanthi Koutsandrea; Ioannis Ladas
Journal:  Clin Exp Optom       Date:  2010-12-29       Impact factor: 2.742

2.  Destructive encephalopathy in incontinentia pigmenti.

Authors:  Anthony R Hart; Christopher Edwards; Jugnu Mahajan; Margaret L Wood; Paul D Griffiths
Journal:  Dev Med Child Neurol       Date:  2008-11-25       Impact factor: 5.449

3.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

4.  Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Authors:  Wayne A Cabral; Elena Makareeva; Alain Colige; Anne D Letocha; Jennifer M Ty; Heather N Yeowell; Gerard Pals; Sergey Leikin; Joan C Marini
Journal:  J Biol Chem       Date:  2005-02-22       Impact factor: 5.157

Review 5.  National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987.

Authors: 
Journal:  Neurofibromatosis       Date:  1988

6.  Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

Authors:  Ulrike Schwarze; Ryu-Ichiro Hata; Victor A McKusick; Hiroshi Shinkai; H Eugene Hoyme; Reed E Pyeritz; Peter H Byers
Journal:  Am J Hum Genet       Date:  2004-04-09       Impact factor: 11.025

7.  The treatment of basal cell carcinomas in a patient with xeroderma pigmentosum with a combination of imiquimod 5% cream and oral acitretin.

Authors:  B Giannotti; L Vanzi; E M Difonzo; N Pimpinelli
Journal:  Clin Exp Dermatol       Date:  2003-11       Impact factor: 3.470

8.  Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.

Authors:  Maria Rosa Pizzamiglio; Laura Piccardi; Filippo Bianchini; Loredana Canzano; Liana Palermo; Francesca Fusco; Giovanni D'Antuono; Chiara Gelmini; Livia Garavelli; Matilde Valeria Ursini
Journal:  PLoS One       Date:  2014-01-29       Impact factor: 3.240

9.  Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Authors:  Darcy A Krueger; Hope Northrup
Journal:  Pediatr Neurol       Date:  2013-10       Impact factor: 3.372

Review 10.  Neurofibromatosis 2: hearing restoration options.

Authors:  Tatiana Alves Monteiro; Maria Valeria Schmidt Goffi-Gomez; Robinson Koji Tsuji; Marcos Queiroz Telas Gomes; Rubens Vuono Brito Neto; Ricardo Ferreira Bento
Journal:  Braz J Otorhinolaryngol       Date:  2012-10
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