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J Pediatr Genet 2015; 04(03): 144-153
DOI: 10.1055/s-0035-1564441
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Neurocutaneous Manifestations of Genetic Mosaicism

Maurice A. M. van Steensel
1   Division of Cancer Science, School of Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, United Kingdom
2   Institute of Medical Biology, A*STAR, Singapore
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Publication History

24 May 2015

25 May 2015

Publication Date:
30 November 2015 (online)

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Abstract

Genetic mosaicism is defined as the presence of two or more genetically distinct cell populations in a single individual. Ever more disorders are found to be manifestations of mosaicism and together constitute a significant proportion of the morbidity confronting pediatric specialists. An emerging category is that of overgrowth syndromes with skin manifestations and neurological or developmental abnormalities, such as the well-known Proteus syndrome. In recent years, we have seen dramatic advances in our understanding of these disorders and we now know the genetic basis of many of them. This has profound consequences for diagnosis, counselling, and even treatment, with therapies targeted to specific pathways becoming available for clinical use. Recognizing such overgrowth syndromes, therefore, is more important than ever. Fortunately, their skin manifestations can provide important diagnostic clues when evaluated in the entire phenotypic context. In this review, I provide an overview of the most frequently seen mosaic neurocutaneous phenotypes and discuss their molecular basis.

Keywords

mosaicism - skin - brain - overgrowth - intellectual disability
 

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