Mosaic disorders affecting pigmentation represent a clinically and genetically heterogeneous group that remains incompletely understood at the molecular level. This report describes a unique case of a patient presenting with segmental macular pigmentation and bone fibromas associated with a post-zygotic KRAS variant. Our findings expand the known molecular spectrum of segmental café-au-lait macules and have direct implications for genetic counselling and patient management.
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Jourdain et al. (2025) studied this question.
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