Angelos Kaspiris, Olga D Savvidou, Elias S Vasiliadis, Argyris C Hadjimichael, Dimitra Melissaridou, Stella Iliopoulou-Kosmadaki, Ilias D Iliopoulos, Evangelia Papadimitriou, Efstathios Chronopoulos
Neurofibromatosis type 1 (NF1), which is the most common phacomatoses, is an autosomal dominant disorder characterized by clinical presentations in various tissues and organs, such as the skin, eyes and nervous and skeletal systems. The musculoskeletal implications of NF1 include a variety of deformities, including scoliosis, kyphoscoliosis, spondylolistheses, congenital bony bowing, pseudarthrosis and bone dysplasia. Scoliosis is the most common skeletal problem, affecting 10-30% of NF1 patients. Although the pathophysiology of spinal deformities has not been elucidated yet, defects in bone metabolism have been implicated in the progression of scoliotic curves...
January 15, 2022: Journal of Clinical Medicine