Mozaïeken bij pigmentaandoeningen: verbinding tussen genotype en fenotype

Cutaneous pigmentary mosaicism is a challenge in dermatology. It typically presents in childhood as patterns of hypo-or hyperpigmentation, but may be associated with extracutaneous abnormalities, malignancy risk and questions of heritability. Recent literature has provided better insights into aetiology, classification and genetic diagnostics. The updated classification links developmental pattern and lesion type to underlying pathogenesis, guiding diagnostic and follow-up management. Although technically and logistically challenging, genetic testing is relevant for risk stratification and counselling. Several Dutch centres are currently collaborating on the development of national recommendations to translate these into everyday clinical practice.