Literature DB >> 10398257

Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism.

W Küster1, A König.   

Abstract

Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism. Copyright 1999. Wiley-Liss, Inc.

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Year:  1999        PMID: 10398257     DOI: 10.1002/(sici)1096-8628(19990806)85:4<346::aid-ajmg7>3.0.co;2-1

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature.

Authors:  Amal Y Kentab; Hamdy H Hassan; Muddathir H A Hamad; Ahmed Alhumidi
Journal:  Sudan J Paediatr       Date:  2014

Review 2.  Hypomelanosis of Ito: a round on the frequency and type of epileptic complications.

Authors:  Piero Pavone; Andrea Domenico Praticò; Martino Ruggieri; Raffaele Falsaperla
Journal:  Neurol Sci       Date:  2015-01-14       Impact factor: 3.307

3.  Monogenic causes of pigmentary mosaicism.

Authors:  Ken Saida; Pin Fee Chong; Asuka Yamaguchi; Naka Saito; Hajime Ikehara; Eriko Koshimizu; Rie Miyata; Akira Ishiko; Kazuyuki Nakamura; Hidenori Ohnishi; Kei Fujioka; Takafumi Sakakibara; Hideo Asada; Kohei Ogawa; Kyoko Kudo; Eri Ohashi; Michiko Kawai; Yuichi Abe; Naomi Tsuchida; Yuri Uchiyama; Kohei Hamanaka; Atsushi Fujita; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Mitsuhiro Kato; Ryutaro Kira; Naomichi Matsumoto
Journal:  Hum Genet       Date:  2022-05-03       Impact factor: 5.881

4.  Congenital ocular anomaly in an infant with trisomy 14 mosaicism.

Authors:  Jun Ho Choi; Youn Joo Choi; So Young Kim
Journal:  Korean J Ophthalmol       Date:  2012-07-24

5.  Retinoblastoma presenting in a child with hypomelanosis of Ito.

Authors:  Tarek El-Sawy; Lingmin He; Michael F Chiang; Kwame Anyane-Yeboa; Kimberly D Morel; Robert Folberg; Brian P Marr; David Abramson
Journal:  Open Ophthalmol J       Date:  2011-12-19

6.  Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports.

Authors:  Vito Pavone; Salvatore Santo Signorelli; Andrea Domenico Praticò; Giovanni Corsello; Salvatore Savasta; Raffaele Falsaperla; Piero Pavone; Giuseppe Sessa; Martino Ruggieri
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889

7.  Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.

Authors:  C Salas-Labadía; S Gómez-Carmona; R Cruz-Alcívar; D Martínez-Anaya; V Del Castillo-Ruiz; C Durán-McKinster; V Ulloa-Avilés; E Yokoyama-Rebollar; A Ruiz-Herrera; P Navarrete-Meneses; E Lieberman-Hernández; A González-Del Angel; D Cervantes-Barragán; C Villarroel-Cortés; A Reyes-León; D Suárez-Pérez; A Pedraza-Meléndez; A González-Orsuna; P Pérez-Vera
Journal:  Orphanet J Rare Dis       Date:  2019-11-15       Impact factor: 4.123

8.  Hypomelanosis of Ito with Multiple Congenital Anomalies.

Authors:  Da-Ae Yu; Ohsang Kwon; Kyu Han Kim
Journal:  Ann Dermatol       Date:  2019-08-30       Impact factor: 1.444

9.  A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.

Authors:  Zhuo Ran Cai; Catherine McCuaig; Afshin Hatami; Jean-Baptiste Rivière; Danielle Marcoux
Journal:  Pediatr Dermatol       Date:  2022-02-17       Impact factor: 1.997

  9 in total

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