Literature DB >> 19951648

Hypomelanosis of Ito with hemimegalencephaly.

Suvasini Sharma1, Naveen Sankhyan, Madhulika Kabra, Atin Kumar.   

Abstract

Hypomelanosis of Ito is a neurocutaneous syndrome characterized by hypopigmented lesions occurring in streaks and whorls located on the trunk, head or extremities. The associated neurological manifestations include mental retardation, seizures, language disabilities and motor system dysfunction. Hemihypertrophy has also been described in this syndrome. We present a 3-month-old male infant with Hypomelanosis of Ito, hemi-hypertrophy and hemi-megalencephaly.

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Year:  2009        PMID： 19951648

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN： 1087-2108


  3 in total

1.  De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Authors:  Jeong Ho Lee; My Huynh; Jennifer L Silhavy; Sangwoo Kim; Tracy Dixon-Salazar; Andrew Heiberg; Eric Scott; Vineet Bafna; Kiley J Hill; Adrienne Collazo; Vincent Funari; Carsten Russ; Stacey B Gabriel; Gary W Mathern; Joseph G Gleeson
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

2.  Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Authors:  Ghayda M Mirzaa; Catarina D Campbell; Nadia Solovieff; Carleton Goold; Laura A Jansen; Suchithra Menon; Andrew E Timms; Valerio Conti; Jonathan D Biag; Carissa Adams; Evan August Boyle; Sarah Collins; Gisele Ishak; Sandra Poliachik; Katta M Girisha; Kit San Yeung; Brian Hon Yin Chung; Elisa Rahikkala; Sonya A Gunter; Sharon S McDaniel; Colleen Forsyth Macmurdo; Jonathan A Bernstein; Beth Martin; Rebecca Leary; Scott Mahan; Shanming Liu; Molly Weaver; Michael Doerschner; Shalini Jhangiani; Donna M Muzny; Eric Boerwinkle; Richard A Gibbs; James R Lupski; Jay Shendure; Russell P Saneto; Edward J Novotny; Christopher J Wilson; William R Sellers; Michael Morrissey; Robert F Hevner; Jeffrey G Ojemann; Renzo Guerrini; Leon O Murphy; Wendy Winckler; William B Dobyns
Journal:  JAMA Neurol       Date:  2016-07-01       Impact factor: 18.302

3.  Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report.

Authors:  Malene Trägårdh; Christine Rohr Thomsen; Rikke Thorninger; Bjarne Møller-Madsen
Journal:  J Med Case Rep       Date:  2014-05-19
  3 in total

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