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European Journal of Pediatrics
Published in: European Journal of Pediatrics 12/2012

01-12-2012 | Review

Genodermatoses caused by genetic mosaicism

Authors: M. Vreeburg, M. A. M. van Steensel

Published in: European Journal of Pediatrics | Issue 12/2012

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Abstract

Genetic mosaicism is defined as the existence of at least two genetically distinct cell populations within one individual. Mosaic presentation of genetic disorders is common and is often particularly obvious in the skin, because there it will generate recognizable patterns. Recognizing those can frequently assist in establishing a diagnosis. In this review, we discuss the mechanisms that give rise to genetic mosaicism. We describe its most frequent cutaneous manifestations that are relevant to paediatric practice. While most mosaic genetic diseases are rare, it is important to recognize them so that patients and parents may receive appropriate genetic counselling. Moreover, recent developments are now resulting in novel, targeted treatments for such disorders that promise to considerably improve patients' lives.
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Metadata
Title
Genodermatoses caused by genetic mosaicism
Authors
M. Vreeburg
M. A. M. van Steensel
Publication date
01-12-2012
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 12/2012
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-012-1855-9

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