Περίληψη:
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. Measurements of
Bone Mineral Density (BMD) in the lumbar spine by using dual energy
absorptiometry (DXA) and quantitative computer tomography (QCT) have
demonstrated a marked reduction in Z-score and osteoporosis.
Additionally, serum bone metabolic markers, such as vitamin D, calcium,
phosphorus, osteocalcin and alkaline phosphatase, have been found to be
abnormal. Intraoperative and histological vertebral analysis confirmed
that alterations of the trabecular microarchitecture are associated with
inadequate bone turnover, indicating generalized bone metabolic defects.
At the molecular level, loss of function of neurofibromin dysregulates
Ras and Transforming Growth factor-beta 1 (TGF-beta 1) signaling and
leads to altered osteoclastic proliferation, osteoblastic activity and
collagen production. Correlation between clinical characteristics and
molecular pathways may provide targets for novel therapeutic approaches
in NF1.
Συγγραφείς:
Kaspiris, Angelos
Savvidou, Olga D.
Vasiliadis, Elias S. and
Hadjimichael, Argyris C.
Melissaridou, Dimitra and
Iliopoulou-Kosmadaki, Stella
Iliopoulos, Ilias D.
Papadimitriou,
Evangelia
Chronopoulos, Efstathios
