IMPE Abstracts

Introduction: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic activating mutations in HRAS, NRAS or KRAS. It is characterised by the presence of congenital epidermal, melanocytic, or sebaceous nevi, elevated circulating FGF23 levels that causes renal phosphate wasting and rickets, skeletal hypomineralization and focal bone lesions ipsilateral to nevi.Clinical Case: We repor...