Diana Carli, Simona Cardaropoli, Daniele Tessaris, Paola Coppo, Roberta La Selva, Claudia Cesario, Francesca Romana Lepri, Verdiana Pullano, Martina Palumbo, Ugo Ramenghi, Alfredo Brusco, Enzo Medico, Luisa De Sanctis, Giovanni Battista Ferrero, Alessandro Mussa
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain malformations, and FGF23-mediated hypophosphatemic rickets. The MEK inhibitor Trametinib, acting on the RAS/MAPK pathway, is a candidate for CSHS therapy. A 4-year-old boy with seborrheic nevus, eye choristoma, multiple hamartomas, brain malformation, pleural lymphangioma and chylothorax developed severe hypophosphatemic rickets unresponsive to phosphate supplementation...
December 2022: Genes, Chromosomes & Cancer