Literature DB >> 15327534

Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.

S M Taibjee1, D C Bennett, C Moss.   

Abstract

There is increasing evidence that hypomelanosis of Ito and related disorders such as linear and whorled naevoid hypermelanosis are due to mosaicism for a variety of chromosomal abnormalities. This group of disorders is better termed 'pigmentary mosaicism'. In this review we explain how disparate chromosomal abnormalities might manifest as a common pigmentary phenotype. In particular, we provide evidence supporting the hypothesis that the chromosomal abnormalities reported in these disorders specifically disrupt expression or function of pigmentary genes.

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Year:  2004        PMID： 15327534     DOI： 10.1111/j.1365-2133.2004.06057.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  11 in total

Review 1.  Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration.

Authors:  Steven A Frank
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-23       Impact factor: 11.205

2.  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 3.  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

4.  Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty.

Authors:  Shweta U Dhar; Patricia Robbins-Furman; Moise L Levy; Ankita Patel; Fernando Scaglia
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

5.  Pigmentary nevi on face have unique patterns and implications: The concept of Blaschko's lines for pigmentary nevi.

Authors:  Nilendu Sarma
Journal:  Indian J Dermatol       Date:  2012-01       Impact factor: 1.494

6.  Progressive cribriform and zosteriform hyperpigmentation: Where are we at present?

Authors:  Tarang Goyal
Journal:  Indian Dermatol Online J       Date:  2013-10

7.  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

8.  Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism.

Authors:  Miguel Pinto de Gouveia; Inês Coutinho; Vera Teixeira; Renata d'Oliveira; Margarida Venâncio; Ana Moreno
Journal:  An Bras Dermatol       Date:  2016 Nov-Dec       Impact factor: 1.896

9.  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

10.  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
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