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

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 deform...

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Autores principales: Kaspiris, Angelos, Savvidou, Olga D., Vasiliadis, Elias S., Hadjimichael, Argyris C., Melissaridou, Dimitra, Iliopoulou-Kosmadaki, Stella, Iliopoulos, Ilias D., Papadimitriou, Evangelia, Chronopoulos, Efstathios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8781800/
https://www.ncbi.nlm.nih.gov/pubmed/35054138
http://dx.doi.org/10.3390/jcm11020444
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author Kaspiris, Angelos
Savvidou, Olga D.
Vasiliadis, Elias S.
Hadjimichael, Argyris C.
Melissaridou, Dimitra
Iliopoulou-Kosmadaki, Stella
Iliopoulos, Ilias D.
Papadimitriou, Evangelia
Chronopoulos, Efstathios
author_facet Kaspiris, Angelos
Savvidou, Olga D.
Vasiliadis, Elias S.
Hadjimichael, Argyris C.
Melissaridou, Dimitra
Iliopoulou-Kosmadaki, Stella
Iliopoulos, Ilias D.
Papadimitriou, Evangelia
Chronopoulos, Efstathios
author_sort Kaspiris, Angelos
collection PubMed
description 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.
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spelling pubmed-87818002022-01-22 Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1 Kaspiris, Angelos Savvidou, Olga D. Vasiliadis, Elias S. Hadjimichael, Argyris C. Melissaridou, Dimitra Iliopoulou-Kosmadaki, Stella Iliopoulos, Ilias D. Papadimitriou, Evangelia Chronopoulos, Efstathios J Clin Med Review 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. MDPI 2022-01-15 /pmc/articles/PMC8781800/ /pubmed/35054138 http://dx.doi.org/10.3390/jcm11020444 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Kaspiris, Angelos
Savvidou, Olga D.
Vasiliadis, Elias S.
Hadjimichael, Argyris C.
Melissaridou, Dimitra
Iliopoulou-Kosmadaki, Stella
Iliopoulos, Ilias D.
Papadimitriou, Evangelia
Chronopoulos, Efstathios
Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
title Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
title_full Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
title_fullStr Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
title_full_unstemmed Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
title_short Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
title_sort current aspects on the pathophysiology of bone metabolic defects during progression of scoliosis in neurofibromatosis type 1
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8781800/
https://www.ncbi.nlm.nih.gov/pubmed/35054138
http://dx.doi.org/10.3390/jcm11020444
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