Pigmentary Mosaicism
摘要
Mosaicism results from postzygotic genetic or epigenetic modifications that result in two or more distinct cell populations affecting skin or any of the extracutaneous tissue. Pigmentary mosaicism encompasses a heterogenous group of cutaneous disorders characterized by patterned alteration of pigmentation of skin following the lines of Blaschko, checkerboard, phylloid or other established cutaneous mosaic distributions. Cutaneous mosaicism often serves as a marker of multisystem abnormalities includied neurodevelopmental, musculoskeletal and ocular anomalies. This chapter delineates the types of pigmentary mosaicism, syndromic associations and evaluation of a patient with suspected pigmentary mosaicism.