Neurocutaneous manifestations of genetic mosaicism

Maurice A. M. van Steensel

    Research output: Contribution to journalReview articlepeer-review

    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.

    Original languageEnglish
    Pages (from-to)144-153
    Number of pages10
    JournalJournal of Pediatric Genetics
    Volume4
    Issue number3
    DOIs
    Publication statusPublished - Sep 2015

    Keywords

    • mosaicism
    • skin
    • brain
    • overgrowth
    • intellectual disability

    Fingerprint Dive into the research topics of 'Neurocutaneous manifestations of genetic mosaicism'. Together they form a unique fingerprint.

    Cite this