Genodermatoses caused by genetic mosaicism

M. Vreeburg, M. A. M. van Steensel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Web of Science)


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.
Original languageEnglish
Pages (from-to)1725-1735
JournalEuropean Journal of Pediatrics
Issue number12
Publication statusPublished - Dec 2012


  • Genetic mosaicism
  • X-linked
  • Lethal gene
  • Blaschko line

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