Scoperta di Geni in Melanocitosi Dermana Estesa rivela Cause Mosaiche Multiple.

BACKGROUND: Extensive or atypical dermal melanocytosis (EDM) is abnormal macular blue/black skin pigmentation that can be associated with other congenital abnormalities and an increased risk of melanoma. It is probably underdiagnosed due to phenotypic overlap with common transient dermal melanocytosis (so-called 'blue spots'), and is frequently misdiagnosed as congenital melanocytic naevi. The genetic cause has remained largely unknown, with mosaic variants in only one gene, GNAQ, described in only a handful of cases to date. OBJECTIVES: To improve our understanding of EDM by combining deep phenotyping with genetic investigations in a large paediatric cohort. METHODS: Forty-seven patients