Literature DB >> 15153903

The epidermal nevus syndromes: multisystem disorders.

Justin J Vujevich1, Anthony J Mancini.   

Abstract

The epidermal nevus syndromes are a group of congenital syndromes comprising epidermal nevi in conjunction with central nervous system (CNS), ocular, musculoskeletal, and other organ anomalies. We describe a patient with epidermal nevi and multiple organ abnormalities, highlighting the wide spectrum of involvement in epidermal nevus syndromes, and briefly summarize the literature on these rare syndromes.

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Year:  2004        PMID： 15153903     DOI： 10.1016/s0190-9622(02)61547-6

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  7 in total

1.  Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Authors:  Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate
Journal:  Hum Mol Genet       Date:  2013-09-04       Impact factor: 6.150

2.  Epidermal nevus syndrome with internal carotid artery occlusion and intracranial and orbital lipomas.

Authors:  M Canyigit; K K Oguz
Journal:  AJNR Am J Neuroradiol       Date:  2006-08       Impact factor: 3.825

3.  Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Authors:  Christian Hafner; Johanna M M van Oers; Thomas Vogt; Michael Landthaler; Robert Stoehr; Hagen Blaszyk; Ferdinand Hofstaedter; Ellen C Zwarthoff; Arndt Hartmann
Journal:  J Clin Invest       Date:  2006-08       Impact factor: 14.808

Review 4.  Mosaic RASopathies.

Authors:  Christian Hafner; Leopold Groesser
Journal:  Cell Cycle       Date:  2012-12-19       Impact factor: 4.534

5.  Congenital tumors arising from nevus sebaceous in 2 neonates.

Authors:  Lynette Wei Yi Wee; Bori Born; Sharon Mun Yee Wong; Hui-Ling Chia; Sithach Mey; Suresh Chandran; Mark Jean Aan Koh
Journal:  JAAD Case Rep       Date:  2022-01-06

Review 6.  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

7.  Late onset epidermal nevus with hypertrichosis and facial hemihypertrophy.

Authors:  M Saritha; Laxmisha Chandrashekar; Devinder Mohan Thappa; A Ramesh; Debdatta Basu
Journal:  Indian J Dermatol       Date:  2014-03       Impact factor: 1.494
  7 in total

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