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Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1

1
Laboratory of Molecular Pharmacology, Division for Orthopaedic Research, School of Health Sciences, University of Patras, 26504 Patras, Greece
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First Department of Orthopaedic Surgery, “ATTIKON” University Hospital, School of Medicine, National and Kapodistrian University of Athens, Rimini 1, 12462 Athens, Greece
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Third Department of Orthopaedic Surgery, “KAT” General Hospital, School of Medicine, National and Kapodistrian University of Athens, Nikis 2, 14561 Athens, Greece
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Third Department of Orthopaedic Surgery, “KAT” General Hospital of Athens-NHS, Nikis 2, 14561 Athens, Greece
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Department of Orthopaedic Surgery, “Rion” University Hospital and Medical School, School of Health Sciences, University of Patras, 26504 Patras, Greece
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Laboratory for Research of the Musculoskeletal System, School of Medicine, National and Kapodistrian University of Athens, 14561 Athens, Greece
*
Author to whom correspondence should be addressed.
Academic Editors: Elena A. Tsourdi, Polyzois Makras, Andrea Burden and Maria Yavropoulou
J. Clin. Med. 2022, 11(2), 444; https://doi.org/10.3390/jcm11020444
Received: 20 December 2021 / Revised: 11 January 2022 / Accepted: 12 January 2022 / Published: 15 January 2022
(This article belongs to the Special Issue Recent Advances in the Management of Rare Metabolic Bone Diseases)
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-β1 (TGF-β1) 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. View Full-Text
Keywords: neurofibromatosis type 1; scoliosis; bone metabolism defects; bone mineral density neurofibromatosis type 1; scoliosis; bone metabolism defects; bone mineral density
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MDPI and ACS Style

Kaspiris, A.; Savvidou, O.D.; Vasiliadis, E.S.; Hadjimichael, A.C.; Melissaridou, D.; Iliopoulou-Kosmadaki, S.; Iliopoulos, I.D.; Papadimitriou, E.; Chronopoulos, E. Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1. J. Clin. Med. 2022, 11, 444. https://doi.org/10.3390/jcm11020444

AMA Style

Kaspiris A, Savvidou OD, Vasiliadis ES, Hadjimichael AC, Melissaridou D, Iliopoulou-Kosmadaki S, Iliopoulos ID, Papadimitriou E, Chronopoulos E. Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1. Journal of Clinical Medicine. 2022; 11(2):444. https://doi.org/10.3390/jcm11020444

Chicago/Turabian Style

Kaspiris, Angelos, Olga D. Savvidou, Elias S. Vasiliadis, Argyris C. Hadjimichael, Dimitra Melissaridou, Stella Iliopoulou-Kosmadaki, Ilias D. Iliopoulos, Evangelia Papadimitriou, and Efstathios Chronopoulos. 2022. "Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1" Journal of Clinical Medicine 11, no. 2: 444. https://doi.org/10.3390/jcm11020444

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