Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1
2021
Abstract
Legius syndrome (LGSS, MIM 611431) is a rare autosomal dominant (AD) hereditary neurocutaneous disease, due to pathogenic variants in the SPRED1 gene (15q14), affecting the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway and with skin spots called café-au-lait macules (CALM) and sometimes axillary and/or inquinal freckling (numerous small brown spots similar to freckles). LGSS was described in 2007 as an NF1-like syndrome by differentiation from patients diagnosed with von Recklinghausen type I neurofibromatosis (neurofibromatosis type 1, NF1, MIM 162200).