Titre du document / Document title

Decreased bone mineral density in patients with neurofibromatosis 1

Auteur(s) / Author(s)

LAMMERT Marga ⁽¹⁾ ; KAPPLER Martin ⁽²⁾ ; MAUTNER Victor-Felix ⁽³⁾ ; LAMMERT Kurt ⁽¹⁾ ; STÖRKEL Stephan ⁽⁴⁾ ; FRIEDMAN Jan M. ⁽⁵⁾ ; ATKINS Derek ⁽⁴⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Am Stötchen 17, Arnsberg, ALLEMAGNE
⁽²⁾ Berufsgenossenschaftliches Forschungsinstitut für Arbeitsmedizin, Bochum, ALLEMAGNE
⁽³⁾ Klinkum Nord, Ochsenzoll, ALLEMAGNE
⁽⁴⁾ Institute for Pathology, Universtity of Witten/Herdecke, Klinikum Barmen, Heussnerstrasse 40, 42283 Wuppertal, ALLEMAGNE
⁽⁵⁾ Department of Medical Genetics. University of British Columbia, Vancouver. British Columbia, CANADA

Résumé / Abstract

Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Although there is a considerable variability in clinical expression, NF1 is almost fully penetrant in adult patients and may be associated with a variety of skeletal anomalies. Spinal deformities are the most common skeletal manifestation, with an incidence estimated from 10-25% in various studies. Some NF1 patients have a dystrophic form of scoliosis, which is characterized by early age at onset and rapid progression. Complications have been reported during spinal instrumentation of dystrophic curves due to soft, non-resistant vertebral bony tissue, suggesting that an alteration of bone quality may occur in NF1 patients. Recent studies have suggested that decreased bone mineral density (BMD) may occur among patients with NF1. We performed a cross-sectional study on 104 adults with NF1, using quantitative ultrasonometry (QUS) to investigate whether decreased BMD is a general phenomenon in NF1 patients. The data reveal that BMD, as measured by age- and gender- adjusted Z-scores, is significantly lower in NF1 patients than in the normal reference population. The decrease in BMD appears to be even more marked among NF1 patients with scoliosis that requires surgical treatment. The findings indicate that NF1 produces a generalized alteration of bone in addition to the focal osseous dysplasias of the vertebrae, tibia, and sphenoid wing that characterize this condition. The pathological mechanism underlying these bony changes remains to be elucidated.

Revue / Journal Title

Osteoporosis international   ISSN 0937-941X 

Source / Source

2005, vol. 16, n^o9, pp. 1161-1166 [6 page(s) (article)] (30 ref.)

Langue / Language

Anglais

Editeur / Publisher

Springer, London, ROYAUME-UNI  (1990) (Revue)

Mots-clés anglais / English Keywords

Diseases of the osteoarticular system ; Deformation ; Spine disease ; Benign neoplasm ; Nervous system diseases ; Phacomatosis ; Skin disease ; Genetic disease ; Scoliosis ; Quantitative analysis ; Human ; Bone mineral density ; Osteoporosis ; Neurofibromatosis Recklinghausen ;

Mots-clés français / French Keywords

Système ostéoarticulaire pathologie ; Déformation ; Rachis pathologie ; Tumeur bénigne ; Système nerveux pathologie ; Phacomatose ; Peau pathologie ; Maladie héréditaire ; Scoliose ; Analyse quantitative ; Homme ; Densité minérale osseuse ; Ostéoporose ; Neurofibromatose Recklinghausen ;

Mots-clés espagnols / Spanish Keywords

Sistema osteoarticular patología ; Deformación ; Raquis patología ; Tumor benigno ; Sistema nervioso patología ; Facomatosis ; Piel patología ; Enfermedad hereditaria ; Escoliosis ; Análisis cuantitativo ; Hombre ; Masa mineral ósea ; Osteoporosis ; Neurofibromatosis Recklinghausen ;

Mots-clés d'auteur / Author Keywords

Bone mineral density ,Neurofibromatosis type 1 ; Quantitative ultrasonometry ,Scoliosis ;

Localisation / Location

INIST-CNRS, Cote INIST : 22974, 35400013160370.0190