Literature DB >> 1992375

Vascular abnormalities in epidermal nevus syndrome.

W B Dobyns1, B P Garg.   

Abstract

We report a patient with epidermal nevus syndrome and right hemispheric infarct and review 3 others with neurologic manifestations best explained by ischemia or hemorrhage. Each had a significant vascular abnormality such as occlusion or blood vessel dysplasia. None had hemimegalencephaly. We hypothesize that underlying vascular dysplasia is the cause of the neurologic lesions in these patients.

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Mesh：

Year:  1991        PMID： 1992375     DOI： 10.1212/wnl.41.2_part_1.276

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  4 in total

1.  Bilateral renal artery stenosis and epidermal nevus syndrome in a child.

Authors:  Fahad Alsohim; Pauline Abou-Jaoude; Jean Ninet; Jean-Pierre Pracros; Alice Phan; Pierre Cochat
Journal:  Pediatr Nephrol       Date:  2011-07-01       Impact factor: 3.714

2.  PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Authors:  Ghayda Mirzaa; Andrew E Timms; Valerio Conti; Evan August Boyle; Katta M Girisha; Beth Martin; Martin Kircher; Carissa Olds; Jane Juusola; Sarah Collins; Kaylee Park; Melissa Carter; Ian Glass; Inge Krägeloh-Mann; David Chitayat; Aditi Shah Parikh; Rachael Bradshaw; Erin Torti; Stephen Braddock; Leah Burke; Sondhya Ghedia; Mark Stephan; Fiona Stewart; Chitra Prasad; Melanie Napier; Sulagna Saitta; Rachel Straussberg; Michael Gabbett; Bridget C O'Connor; Catherine E Keegan; Lim Jiin Yin; Angeline Hwei Meeng Lai; Nicole Martin; Margaret McKinnon; Marie-Claude Addor; Luigi Boccuto; Charles E Schwartz; Agustina Lanoel; Robert L Conway; Koenraad Devriendt; Katrina Tatton-Brown; Mary Ella Pierpont; Michael Painter; Lisa Worgan; James Reggin; Raoul Hennekam; Karen Tsuchiya; Colin C Pritchard; Mariana Aracena; Karen W Gripp; Maria Cordisco; Hilde Van Esch; Livia Garavelli; Cynthia Curry; Anne Goriely; Hulya Kayserilli; Jay Shendure; John Graham; Renzo Guerrini; William B Dobyns
Journal:  JCI Insight       Date:  2016-06-16

Review 3.  Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature.

Authors:  QingQing Deng; Yan Li; ZhanLi Liu; JieLin Zhou; LingWei Weng
Journal:  J Med Case Rep       Date:  2022-09-28

Review 4.  Malformations of cortical development and epilepsy.

Authors:  Richard J Leventer; Renzo Guerrini; William B Dobyns
Journal:  Dialogues Clin Neurosci       Date:  2008       Impact factor: 5.986
  4 in total

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